Practice parameter for the diagnosis and management of primary immunodeficiency
The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for establishing the “Practice parameter for the diagnosis and management of primary immunodeficiency.” This is a complete and co...
Saved in:
Published in | Journal of allergy and clinical immunology Vol. 136; no. 5; pp. 1186 - 1205.e78 |
---|---|
Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
United States
Elsevier Inc
01.11.2015
Elsevier Limited |
Subjects | |
Online Access | Get full text |
Cover
Loading…
Abstract | The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for establishing the “Practice parameter for the diagnosis and management of primary immunodeficiency.” This is a complete and comprehensive document at the current time. The medical environment is a changing environment, and not all recommendations will be appropriate for all patients. Because this document incorporated the efforts of many participants, no single individual, including those who served on the Joint Task Force, is authorized to provide an official AAAAI or ACAAI interpretation of these practice parameters. Any request for information about or an interpretation of these practice parameters by the AAAAI or ACAAI should be directed to the Executive Offices of the AAAAI, the ACAAI, and the Joint Council of Allergy, Asthma & Immunology. These parameters are not designed for use by pharmaceutical companies in drug promotion. |
---|---|
AbstractList | The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for establishing the "Practice parameter for the diagnosis and management of primary immunodeficiency." This is a complete and comprehensive document at the current time. The medical environment is a changing environment, and not all recommendations will be appropriate for all patients. Because this document incorporated the efforts of many participants, no single individual, including those who served on the Joint Task Force, is authorized to provide an official AAAAI or ACAAI interpretation of these practice parameters. Any request for information about or an interpretation of these practice parameters by the AAAAI or ACAAI should be directed to the Executive Offices of the AAAAI, the ACAAI, and the Joint Council of Allergy, Asthma & Immunology. These parameters are not designed for use by pharmaceutical companies in drug promotion. The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for establishing the "Practice parameter for the diagnosis and management of primary immunodeficiency." This is a complete and comprehensive document at the current time. The medical environment is a changing environment, and not all recommendations will be appropriate for all patients. Because this document incorporated the efforts of many participants, no single individual, including those who served on the Joint Task Force, is authorized to provide an official AAAAI or ACAAI interpretation of these practice parameters. Any request for information about or an interpretation of these practice parameters by the AAAAI or ACAAI should be directed to the Executive Offices of the AAAAI, the ACAAI, and the Joint Council of Allergy, Asthma & Immunology. These parameters are not designed for use by pharmaceutical companies in drug promotion. |
Author | Routes, John M., MD Nelson, Robert P., MD Blessing-Moore, Joann, MD Komarow, Hirsh D., MD Tilles, Stephen, MD Lang, David, MD Chinen, Javier, MD, PhD Khan, David A., MD Orange, Jordan S., MD, PhD Spector, Sheldon L., MD Ballas, Zuhair K., MD Hsu, Joyce T., MD Mazer, Bruce, MD Nicklas, Richard A., MD Schuller, Diane, MD Shearer, William T., MD, PhD Sorensen, Ricardo U., MD Bonilla, Francisco A., MD, PhD Keller, Michael, MD Wallace, Dana, MD Frank, Michael M., MD Portnoy, Jay M., MD Randolph, Christopher R., MD Kobrynski, Lisa J., MD Khan, David, MD Verbsky, James W., MD, PhD Bernstein, David I., MD Oppenheimer, John, MD |
Author_xml | – sequence: 1 fullname: Bonilla, Francisco A., MD, PhD – sequence: 2 fullname: Khan, David A., MD – sequence: 3 fullname: Ballas, Zuhair K., MD – sequence: 4 fullname: Chinen, Javier, MD, PhD – sequence: 5 fullname: Frank, Michael M., MD – sequence: 6 fullname: Hsu, Joyce T., MD – sequence: 7 fullname: Keller, Michael, MD – sequence: 8 fullname: Kobrynski, Lisa J., MD – sequence: 9 fullname: Komarow, Hirsh D., MD – sequence: 10 fullname: Mazer, Bruce, MD – sequence: 11 fullname: Nelson, Robert P., MD – sequence: 12 fullname: Orange, Jordan S., MD, PhD – sequence: 13 fullname: Routes, John M., MD – sequence: 14 fullname: Shearer, William T., MD, PhD – sequence: 15 fullname: Sorensen, Ricardo U., MD – sequence: 16 fullname: Verbsky, James W., MD, PhD – sequence: 17 fullname: Bernstein, David I., MD – sequence: 18 fullname: Blessing-Moore, Joann, MD – sequence: 19 fullname: Lang, David, MD – sequence: 20 fullname: Nicklas, Richard A., MD – sequence: 21 fullname: Oppenheimer, John, MD – sequence: 22 fullname: Portnoy, Jay M., MD – sequence: 23 fullname: Randolph, Christopher R., MD – sequence: 24 fullname: Schuller, Diane, MD – sequence: 25 fullname: Spector, Sheldon L., MD – sequence: 26 fullname: Tilles, Stephen, MD – sequence: 27 fullname: Wallace, Dana, MD – sequence: 28 fullname: Khan, David, MD |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26371839$$D View this record in MEDLINE/PubMed |
BookMark | eNqNkltr3DAQhUVJaTZp_0AfiqEvffF2dLFlQSmE0EsgkEDbZyHL41SuLW0lu7D_vnJ320IeQtCAEHxn0JwzZ-TEB4-EvKSwpUDrt8N2MNZtGdBqCyKXekI2FJQs64ZVJ2QDoGhZS6FOyVlKA-Q3b9QzcspqLmnD1Ybc3EZjZ2ex2JloJpwxFn2Ixfwdi86ZOx-SS4XxXTEZb-5wQj8XoS920U0m7gs3TYsPHfbOOvR2_5w87c2Y8MXxPiffPn74evm5vL75dHV5cV1aydhcsraulahFY20DgmJfGSspmIoaln9m61aA6nvLkXYKeNsJ7AUTVasaK7jk_Jy8OfTdxfBzwTTrySWL42g8hiVpKnmlGGd19RiUcZCVEhl9fQ8dwhJ9HmSlqJQqn0yxA2VjSClir49uaAp6TUYPek1Gr8loELlUFr06tl7aCbt_kr9RZODdAcBs2y-HUac_lmLnItpZd8E93P_9PbkdnXfWjD9wj-n_HDoxDfrLuhvratAKoGk48N94JrRY |
CitedBy_id | crossref_primary_10_1016_j_jaip_2017_07_013 crossref_primary_10_1016_j_jaip_2022_03_017 crossref_primary_10_1007_s10875_016_0367_1 crossref_primary_10_1080_1744666X_2023_2144836 crossref_primary_10_1016_j_pop_2022_12_001 crossref_primary_10_1152_ajplung_00359_2020 crossref_primary_10_1111_pai_13026 crossref_primary_10_1016_j_jpedsurg_2019_02_013 crossref_primary_10_1080_00365513_2022_2092897 crossref_primary_10_3389_fimmu_2020_00522 crossref_primary_10_1007_s12016_019_08756_7 crossref_primary_10_1080_17476348_2019_1641085 crossref_primary_10_1093_labmed_lmx058 crossref_primary_10_1159_000502742 crossref_primary_10_1002_ccr3_1877 crossref_primary_10_1002_alr_22921 crossref_primary_10_1016_j_anai_2021_10_001 crossref_primary_10_1016_j_vaccine_2018_01_061 crossref_primary_10_1016_j_autrev_2021_102872 crossref_primary_10_1111_cei_13105 crossref_primary_10_1111_vox_12651 crossref_primary_10_1093_eurheartj_ehad029 crossref_primary_10_1177_1721727X231195205 crossref_primary_10_1093_cei_uxac092 crossref_primary_10_5114_reum_2019_84814 crossref_primary_10_2217_imt_2018_0088 crossref_primary_10_1007_s10875_023_01485_9 crossref_primary_10_1159_000503967 crossref_primary_10_3389_fimmu_2019_00986 crossref_primary_10_3390_ijms232314710 crossref_primary_10_1016_j_otc_2022_09_007 crossref_primary_10_1097_CPM_0000000000000304 crossref_primary_10_1002_ajpa_23617 crossref_primary_10_1016_j_jaip_2023_05_005 crossref_primary_10_4329_wjr_v10_i11_172 crossref_primary_10_3389_fimmu_2021_786516 crossref_primary_10_1007_s00431_018_3248_1 crossref_primary_10_5492_wjccm_v11_i1_1 crossref_primary_10_1016_j_eimce_2020_07_004 crossref_primary_10_3389_fimmu_2019_00654 crossref_primary_10_3389_fimmu_2018_03146 crossref_primary_10_1016_j_jaip_2018_01_008 crossref_primary_10_2500_aap_2021_42_210082 crossref_primary_10_3390_jcm12216703 crossref_primary_10_4168_aard_2018_6_3_184 crossref_primary_10_1007_s10875_019_00716_2 crossref_primary_10_46497_ArchRheumatol_2023_9988 crossref_primary_10_1186_s13223_016_0130_4 crossref_primary_10_1016_j_jim_2018_08_002 crossref_primary_10_1002_alr_21839 crossref_primary_10_1080_1744666X_2019_1573674 crossref_primary_10_3389_fimmu_2022_852937 crossref_primary_10_1097_TXD_0000000000000811 crossref_primary_10_1542_peds_2016_1279 crossref_primary_10_1016_j_anai_2024_01_019 crossref_primary_10_1183_23120541_00653_2022 crossref_primary_10_7759_cureus_44865 crossref_primary_10_1016_j_jaip_2021_09_031 crossref_primary_10_4168_aair_2021_13_2_271 crossref_primary_10_1093_cid_cix284 crossref_primary_10_1002_jcla_22420 crossref_primary_10_31744_einstein_journal_2021AO6289 crossref_primary_10_4168_aard_2016_4_3_225 crossref_primary_10_1111_sji_13335 crossref_primary_10_17116_terarkh2016888127_134 crossref_primary_10_1186_s12931_018_0733_z crossref_primary_10_1007_s10875_023_01464_0 crossref_primary_10_1016_j_jaip_2023_12_018 crossref_primary_10_3390_v14112370 crossref_primary_10_1016_j_eimc_2020_07_001 crossref_primary_10_1016_j_jaip_2022_10_003 crossref_primary_10_1016_j_jaip_2016_04_008 crossref_primary_10_4168_aair_2023_15_5_562 crossref_primary_10_1016_j_paed_2016_10_005 crossref_primary_10_1186_s13223_018_0290_5 crossref_primary_10_1590_1984_0462__2018_36_4_00020 crossref_primary_10_2500_aap_2023_44_230029 crossref_primary_10_1007_s10875_022_01346_x crossref_primary_10_1080_02770903_2018_1426768 crossref_primary_10_1111_sji_12499 crossref_primary_10_1177_09612033231153535 crossref_primary_10_1186_s13223_020_00431_3 crossref_primary_10_3389_fimmu_2021_721289 crossref_primary_10_1016_j_iac_2020_03_004 crossref_primary_10_3389_fimmu_2017_01862 crossref_primary_10_1016_j_iac_2020_03_005 crossref_primary_10_1016_j_iac_2020_03_003 crossref_primary_10_1016_j_jaip_2021_10_073 crossref_primary_10_1016_j_waojou_2022_100657 crossref_primary_10_1055_s_0041_1730892 crossref_primary_10_1016_j_anai_2021_08_413 crossref_primary_10_1007_s10875_022_01290_w crossref_primary_10_1016_j_tracli_2020_12_005 crossref_primary_10_1016_j_jaip_2020_05_008 crossref_primary_10_1016_j_rmed_2020_106100 crossref_primary_10_1016_j_jim_2022_113350 crossref_primary_10_1016_j_jacig_2024_100234 crossref_primary_10_1016_j_mayocp_2022_08_021 crossref_primary_10_1016_j_jaci_2016_10_005 crossref_primary_10_1542_neo_20_2_e67 crossref_primary_10_1016_j_jaip_2023_07_042 crossref_primary_10_3390_jcm10173809 crossref_primary_10_1155_2022_7140919 crossref_primary_10_4168_aair_2021_13_1_164 crossref_primary_10_1186_s12931_022_02052_3 crossref_primary_10_3390_ijms18020296 crossref_primary_10_1097_MD_0000000000020599 crossref_primary_10_1002_cyto_b_21728 crossref_primary_10_1177_27534030231199675 crossref_primary_10_1080_02770903_2019_1575394 crossref_primary_10_3389_fped_2023_1211254 crossref_primary_10_1080_1744666X_2020_1723417 crossref_primary_10_1016_j_imlet_2020_03_006 crossref_primary_10_1515_cclm_2018_0001 crossref_primary_10_1080_21505594_2021_1982373 crossref_primary_10_1007_s10875_021_01160_x crossref_primary_10_3389_fimmu_2022_864550 crossref_primary_10_1016_j_anai_2016_08_016 crossref_primary_10_1007_s11882_020_00957_x crossref_primary_10_33590_emjallergyimmunol_20_00055 crossref_primary_10_2217_imt_2021_0265 crossref_primary_10_1016_j_jaci_2021_03_041 crossref_primary_10_1016_j_anai_2019_06_004 crossref_primary_10_1016_j_trim_2016_11_001 crossref_primary_10_1016_j_trim_2022_101599 crossref_primary_10_3389_fimmu_2023_1279652 crossref_primary_10_1007_s12016_022_08942_0 crossref_primary_10_1038_s41409_020_01126_4 crossref_primary_10_1016_j_jaip_2018_12_022 crossref_primary_10_1182_hematology_2021000285 crossref_primary_10_3389_fimmu_2023_1208567 crossref_primary_10_3390_diagnostics12102423 crossref_primary_10_3389_fimmu_2020_01317 crossref_primary_10_3389_fimmu_2020_00464 crossref_primary_10_1016_j_jaip_2018_12_016 crossref_primary_10_1016_j_jaci_2016_04_059 crossref_primary_10_1016_j_jaip_2018_12_011 crossref_primary_10_1016_j_clml_2020_04_006 crossref_primary_10_1080_1744666X_2016_1216790 crossref_primary_10_1111_pai_13571 crossref_primary_10_1016_j_iac_2022_07_009 crossref_primary_10_1093_cid_ciad353 crossref_primary_10_1590_s1679_45082017ae3844 crossref_primary_10_1097_NRL_0000000000000374 crossref_primary_10_1097_INF_0000000000004321 crossref_primary_10_1016_j_aller_2019_12_009 crossref_primary_10_1016_j_aller_2019_12_008 crossref_primary_10_1128_CVI_00001_16 crossref_primary_10_1186_s13223_022_00726_7 crossref_primary_10_1016_j_kint_2024_02_021 crossref_primary_10_1080_25785826_2022_2137966 crossref_primary_10_1182_blood_2019000924 crossref_primary_10_1016_j_clim_2022_109070 crossref_primary_10_1111_cei_12866 crossref_primary_10_3389_fimmu_2023_1172004 crossref_primary_10_1038_s41390_023_02725_9 crossref_primary_10_3389_fimmu_2018_00450 crossref_primary_10_3389_fimmu_2019_00316 crossref_primary_10_1186_s13052_020_00843_2 crossref_primary_10_3389_fimmu_2021_717873 crossref_primary_10_1111_imm_13297 crossref_primary_10_3389_fgene_2019_01204 crossref_primary_10_1186_s12879_019_4744_2 crossref_primary_10_1016_j_jaip_2018_11_026 crossref_primary_10_1183_23120541_00388_2021 crossref_primary_10_1016_j_clim_2016_07_017 crossref_primary_10_1016_j_jaip_2017_03_029 crossref_primary_10_1016_j_ebiom_2023_104712 crossref_primary_10_1093_ndt_gfae117 crossref_primary_10_1159_000510790 crossref_primary_10_1016_j_pcl_2019_06_010 crossref_primary_10_1007_s11882_017_0669_2 crossref_primary_10_1016_j_jaip_2023_10_026 crossref_primary_10_1080_15321819_2017_1337641 crossref_primary_10_1007_s10875_020_00922_3 crossref_primary_10_3389_fimmu_2017_00586 crossref_primary_10_1016_j_imlet_2019_10_001 crossref_primary_10_1007_s40268_023_00430_w crossref_primary_10_1016_j_jaci_2020_08_010 crossref_primary_10_1097_TP_0000000000001685 crossref_primary_10_1016_j_jim_2020_112846 crossref_primary_10_1542_pir_2020_0057 crossref_primary_10_31631_2073_3046_2021_20_3_91_106 crossref_primary_10_1097_MD_0000000000025527 crossref_primary_10_1111_ped_15362 crossref_primary_10_1111_pai_12733 crossref_primary_10_1016_j_anai_2017_04_007 crossref_primary_10_2217_imt_2020_0012 crossref_primary_10_3389_fimmu_2019_02496 crossref_primary_10_3389_fimmu_2022_1024330 crossref_primary_10_1007_s12016_022_08950_0 crossref_primary_10_1016_j_jaci_2016_05_042 crossref_primary_10_1007_s10875_017_0472_9 crossref_primary_10_1101_mcs_a003244 crossref_primary_10_1002_cti2_1130 crossref_primary_10_1002_lary_29694 crossref_primary_10_1186_s13223_022_00661_7 crossref_primary_10_3389_fimmu_2022_937738 crossref_primary_10_1542_pir_2017_0308 crossref_primary_10_1016_j_anai_2019_08_012 crossref_primary_10_1016_j_iac_2021_07_004 crossref_primary_10_1089_ped_2020_1160 crossref_primary_10_1016_j_jaip_2024_03_029 crossref_primary_10_1016_j_jaip_2016_09_011 crossref_primary_10_29262_ram_v69i3_1131 crossref_primary_10_1016_j_jaip_2016_09_012 crossref_primary_10_3389_fimmu_2019_01271 crossref_primary_10_3389_fimmu_2019_02484 crossref_primary_10_1007_s10875_023_01632_2 crossref_primary_10_3390_medicina58101457 crossref_primary_10_1038_s43856_023_00412_8 crossref_primary_10_1097_TXD_0000000000001003 crossref_primary_10_1016_j_waojou_2019_100018 crossref_primary_10_1164_rccm_202211_2159IM crossref_primary_10_1007_s10875_019_00600_z crossref_primary_10_1016_j_clim_2020_108569 crossref_primary_10_1016_j_jaip_2016_09_013 crossref_primary_10_26442_00403660_2021_12_201176 crossref_primary_10_1002_alr_23206 crossref_primary_10_1038_s41598_024_64942_4 crossref_primary_10_1136_bmjopen_2017_017678 crossref_primary_10_1007_s10875_022_01418_y crossref_primary_10_1016_j_iac_2018_08_005 crossref_primary_10_1111_sji_13196 crossref_primary_10_7759_cureus_62718 crossref_primary_10_1016_j_cll_2019_07_013 crossref_primary_10_1016_j_iac_2018_08_009 crossref_primary_10_1016_j_iac_2018_08_006 crossref_primary_10_1007_s10875_024_01671_3 crossref_primary_10_1007_s10875_022_01230_8 crossref_primary_10_1016_j_cll_2019_07_007 crossref_primary_10_1016_j_jtauto_2019_100025 crossref_primary_10_3390_ijms21155223 crossref_primary_10_1093_infdis_jiad145 crossref_primary_10_3389_fimmu_2017_01190 crossref_primary_10_1016_j_cll_2019_07_008 crossref_primary_10_3389_fimmu_2020_01283 crossref_primary_10_1080_17474086_2022_2063833 crossref_primary_10_1016_j_alit_2019_10_011 crossref_primary_10_1016_j_ebiom_2023_104868 crossref_primary_10_1371_journal_pone_0237285 crossref_primary_10_1542_peds_2017_2971 crossref_primary_10_1016_j_jaip_2017_11_024 crossref_primary_10_14785_lymphosign_2018_0010 crossref_primary_10_1007_s00106_019_0719_2 crossref_primary_10_3346_jkms_2016_31_10_1560 crossref_primary_10_1016_j_jaci_2017_12_980 crossref_primary_10_1007_s10875_018_0489_8 crossref_primary_10_1007_s00112_017_0399_5 crossref_primary_10_1111_imm_13229 crossref_primary_10_1002_ajmg_c_32070 crossref_primary_10_59213_TP_2023_32548 crossref_primary_10_1016_j_anai_2024_03_007 crossref_primary_10_5415_apallergy_0000000000000114 crossref_primary_10_1016_j_jaip_2016_11_033 crossref_primary_10_1038_s41598_018_23063_5 crossref_primary_10_1182_blood_2019004000 crossref_primary_10_3389_fimmu_2019_00033 crossref_primary_10_1016_j_jped_2020_10_005 crossref_primary_10_1111_trf_15020 crossref_primary_10_1155_2022_6343818 crossref_primary_10_1186_s13223_023_00831_1 crossref_primary_10_1007_s10875_023_01536_1 crossref_primary_10_1016_j_jaip_2019_01_024 crossref_primary_10_1186_s12865_019_0310_3 crossref_primary_10_1136_gutjnl_2018_316182 crossref_primary_10_3390_jcm11195705 crossref_primary_10_1007_s11606_019_05435_3 crossref_primary_10_1111_trf_15015 crossref_primary_10_1016_j_waojou_2019_100068 crossref_primary_10_1111_trf_15017 crossref_primary_10_1093_cid_cix866 crossref_primary_10_1016_j_jtauto_2023_100230 crossref_primary_10_1111_pai_12923 crossref_primary_10_1097_MOP_0000000000001178 crossref_primary_10_1016_j_anai_2017_11_014 crossref_primary_10_1007_s00251_017_1005_7 crossref_primary_10_1016_j_clim_2020_108366 crossref_primary_10_1097_BOR_0000000000000377 crossref_primary_10_1016_j_neurol_2016_06_003 crossref_primary_10_1002_iid3_1106 crossref_primary_10_1016_j_otc_2016_08_009 crossref_primary_10_1016_j_pcl_2020_09_004 crossref_primary_10_3389_fimmu_2024_1278197 crossref_primary_10_1016_S2352_3026_20_30376_8 crossref_primary_10_3390_vaccines9091018 crossref_primary_10_3390_medicina58010129 crossref_primary_10_1097_RCT_0000000000001411 crossref_primary_10_3389_fimmu_2019_02475 crossref_primary_10_3389_fimmu_2019_02111 crossref_primary_10_1016_j_mcna_2023_08_006 crossref_primary_10_1016_j_humimm_2023_04_004 crossref_primary_10_15789_1563_0625_PFO_2634 crossref_primary_10_1016_j_jaci_2019_09_009 crossref_primary_10_1111_cge_13163 crossref_primary_10_1183_16000617_0019_2018 crossref_primary_10_1111_jpc_15158 crossref_primary_10_3138_jammi_2018_11_12 crossref_primary_10_1002_ajh_26493 crossref_primary_10_3389_fimmu_2019_00040 crossref_primary_10_1016_j_jaip_2016_08_005 crossref_primary_10_1016_j_jim_2018_05_013 crossref_primary_10_2196_32635 crossref_primary_10_1024_1661_8157_a002643 crossref_primary_10_3390_genes14112085 crossref_primary_10_1016_j_vaccine_2021_05_030 crossref_primary_10_3389_fimmu_2021_815710 crossref_primary_10_1007_s10875_022_01275_9 crossref_primary_10_1016_j_jaip_2020_12_024 crossref_primary_10_1007_s40124_019_00202_8 crossref_primary_10_1155_2020_4019608 crossref_primary_10_1007_s10875_021_00995_8 crossref_primary_10_1016_j_anai_2023_01_039 crossref_primary_10_3390_ijerph15081702 crossref_primary_10_1080_09593985_2021_1983907 crossref_primary_10_3389_fimmu_2022_1075527 crossref_primary_10_4236_ojrd_2021_112007 crossref_primary_10_3389_fimmu_2023_1217718 crossref_primary_10_1016_j_blre_2019_100596 crossref_primary_10_1016_j_aller_2020_03_005 crossref_primary_10_7861_clinmedicine_16_6_571 crossref_primary_10_1016_j_crad_2017_03_018 crossref_primary_10_1111_sji_13008 crossref_primary_10_1002_alr_22647 crossref_primary_10_1016_j_jim_2022_113336 crossref_primary_10_1093_cid_ciac842 crossref_primary_10_1016_j_clim_2019_108293 crossref_primary_10_3390_ijms24054721 crossref_primary_10_1097_INF_0000000000001631 crossref_primary_10_1155_2023_3977739 crossref_primary_10_1007_s10620_021_07204_x crossref_primary_10_1007_s10238_020_00633_4 crossref_primary_10_1016_j_anai_2022_10_019 crossref_primary_10_1186_s12969_023_00859_y crossref_primary_10_1016_j_jaip_2022_05_017 crossref_primary_10_1542_hpeds_2015_0274 crossref_primary_10_1002_eji_202048713 crossref_primary_10_1136_archdischild_2018_315484 crossref_primary_10_1097_INF_0000000000003900 crossref_primary_10_1007_s10875_019_00675_8 crossref_primary_10_3389_fimmu_2022_846660 crossref_primary_10_1016_j_jfma_2021_02_017 crossref_primary_10_1007_s10875_016_0336_8 crossref_primary_10_1007_s10875_023_01457_z crossref_primary_10_21886_2219_8075_2018_9_3_37_43 crossref_primary_10_3389_fimmu_2022_1038354 crossref_primary_10_14309_ajg_0000000000002027 crossref_primary_10_1136_practneurol_2017_001800 crossref_primary_10_1038_s41598_018_25694_0 crossref_primary_10_1177_10781552231165733 crossref_primary_10_1111_imcb_12345 crossref_primary_10_1371_journal_pone_0197037 crossref_primary_10_1007_s10875_020_00916_1 crossref_primary_10_1016_j_rmed_2017_10_016 crossref_primary_10_1007_s10875_020_00788_5 crossref_primary_10_1177_2152656719900338 crossref_primary_10_1016_j_anai_2022_05_028 crossref_primary_10_1016_j_anpede_2018_12_010 crossref_primary_10_1016_j_jaip_2020_11_055 crossref_primary_10_2217_imt_2017_0178 crossref_primary_10_1007_s13318_021_00706_z crossref_primary_10_3389_fimmu_2018_03047 crossref_primary_10_1016_j_anpedi_2018_12_010 crossref_primary_10_1186_s13223_022_00667_1 crossref_primary_10_1016_j_intimp_2017_09_005 crossref_primary_10_1016_j_anai_2020_03_018 crossref_primary_10_1097_ACI_0000000000000583 crossref_primary_10_1183_23120541_00671_2022 crossref_primary_10_1186_s12865_020_00346_z crossref_primary_10_1016_j_cll_2024_04_009 crossref_primary_10_1177_2152656720980408 crossref_primary_10_3389_fimmu_2019_01193 crossref_primary_10_1016_j_anai_2017_07_006 crossref_primary_10_1186_s41479_017_0040_3 crossref_primary_10_1016_j_anai_2017_07_003 crossref_primary_10_3389_fmed_2023_1122367 crossref_primary_10_7759_cureus_20378 crossref_primary_10_1097_MOP_0000000000001331 crossref_primary_10_1016_j_revmed_2021_03_328 crossref_primary_10_1007_s10875_016_0327_9 crossref_primary_10_2217_imt_2017_0071 crossref_primary_10_2500_aap_2021_42_200086 crossref_primary_10_1093_jpids_piz071 crossref_primary_10_1080_14760584_2020_1738224 crossref_primary_10_3928_19382359_20191112_01 crossref_primary_10_1212_NXI_0000000000200088 crossref_primary_10_1007_s10875_017_0470_y crossref_primary_10_3389_fimmu_2021_620709 crossref_primary_10_1016_j_ebiom_2017_03_025 crossref_primary_10_1016_j_jaip_2021_05_004 crossref_primary_10_1016_j_humimm_2018_10_015 crossref_primary_10_2217_imt_2019_0159 crossref_primary_10_3389_fimmu_2021_712637 crossref_primary_10_1111_bcp_14112 crossref_primary_10_1080_14397595_2020_1812820 crossref_primary_10_2500_ar_2016_7_0164 crossref_primary_10_3389_fimmu_2022_906328 crossref_primary_10_36691_RJA1381 crossref_primary_10_2174_1871530319666190828125316 crossref_primary_10_1038_s41385_019_0167_z crossref_primary_10_1007_s11882_019_0864_4 crossref_primary_10_1007_s40521_024_00367_8 crossref_primary_10_1007_s40521_019_00230_1 crossref_primary_10_1136_thoraxjnl_2018_212463 crossref_primary_10_1136_thoraxjnl_2021_217592 crossref_primary_10_1080_13696998_2024_2368987 |
Cites_doi | 10.1016/j.clim.2010.01.006 10.1016/S0041-1345(96)00172-8 10.1001/archoto.2007.7 10.4049/jimmunol.1200490 10.1016/0190-9622(90)70058-P 10.1016/j.clim.2009.11.010 10.1007/s00383-012-3175-6 10.1007/s10354-014-0285-x 10.1182/blood-2010-08-300384 10.2350/10-01-0787-CR.1 10.1002/eji.201242589 10.1016/B978-0-12-385991-4.00002-7 10.1182/blood-2012-08-450551 10.1084/jem.20121303 10.1056/NEJMoa031178 10.1160/TH09-10-0689 10.1111/j.1365-2249.2004.02453.x 10.1111/j.1749-6632.2011.06273.x 10.1016/S0031-3955(05)70274-1 10.1182/blood-2002-02-0388 10.1007/s10875-012-9684-1 10.1172/JCI200422588 10.1182/blood-2011-07-325217 10.1073/pnas.1103681108 10.1016/j.jaci.2011.03.052 10.1182/blood-2011-01-329052 10.1016/j.jfma.2011.11.004 10.1038/bmt.2009.358 10.1016/j.jpeds.2010.07.057 10.1016/j.hoc.2012.11.002 10.1016/j.jaci.2006.01.015 10.1186/ar4171 10.1038/mi.2011.5 10.1038/bmt.2010.169 10.1002/ajmg.a.35604 10.1182/blood-2011-06-360586 10.1182/blood-2009-09-239087 10.1084/jem.20141759 10.1056/NEJMoa1307361 10.1111/j.1399-3038.2006.00491.x 10.1016/j.jaci.2009.10.059 10.1007/s10875-008-9196-1 10.1111/j.1749-6632.2011.06322.x 10.1182/blood-2012-04-420166 10.1182/blood-2014-09-602763 10.1016/j.jaci.2009.10.038 10.1007/s00431-005-1657-4 10.1084/jem.20111229 10.1016/j.vaccine.2008.11.001 10.1084/jem.20070264 10.1182/blood-2010-05-283523 10.1136/bcr-2012-008116 10.1186/1546-0096-10-10 10.1182/blood-2007-06-091744 10.1016/j.jaci.2013.02.038 10.1016/S0161-5890(99)00107-8 10.1182/blood-2003-06-1964 10.1007/s10875-009-9341-5 10.1016/j.jaci.2012.05.043 10.1182/blood-2011-08-374199 10.2353/ajpath.2007.060573 10.3389/fimmu.2012.00234 10.1056/NEJMc091704 10.1183/09031936.00189011 10.1002/art.30170 10.1111/bjh.12207 10.1016/j.jaci.2011.02.027 10.1016/j.clim.2004.03.013 10.1007/s10875-012-9659-2 10.1056/NEJMoa1307362 10.1182/blood-2010-06-292490 10.1111/j.1442-200X.2011.03409.x 10.1016/j.jaci.2008.10.037 10.1542/peds.2012-2255 10.1097/MPH.0b013e31824e15b8 10.1007/s11882-002-0070-6 10.1155/2012/841530 10.1056/NEJMoa1111160 10.1016/j.bbmt.2012.02.002 10.1128/CMR.00001-11 10.1111/j.1365-2133.2009.09404.x 10.1016/j.jaci.2010.07.034 10.1136/gut.2010.226027 10.1182/blood-2013-07-515528 10.1371/journal.pcbi.1000396 10.1016/j.jaci.2013.11.043 10.1084/jem.20091983 10.1007/s00281-008-0121-8 10.1111/j.1399-0039.2006.00557.x 10.1038/ng.748 10.1016/j.jpeds.2012.06.018 10.1126/science.1158298 10.1084/jem.20110958 10.1084/jem.20112533 10.1203/PDR.0b013e3181a7b0a2 10.1016/j.jim.2010.08.010 10.1016/j.jaci.2011.12.966 10.1128/JCM.02020-10 10.1097/ACI.0b013e32834c22f5 10.1016/j.jaci.2006.01.003 10.1097/MAJ.0b013e31823484de 10.1080/00365540260348662 10.1038/sj.gene.6364391 10.1084/jem.20070628 10.1007/s10238-012-0200-y 10.1016/j.ajhg.2008.09.013 10.1007/0-387-25515-X_6 10.1111/j.1749-6632.2011.06387.x 10.1586/1744666X.2014.875274 10.1007/s00018-011-0838-8 10.1016/j.jaci.2009.10.063 10.1016/j.jaci.2011.04.030 10.1128/IAI.68.3.1435-1440.2000 10.1182/blood-2011-07-368084 10.1016/j.jpeds.2010.04.020 10.1002/art.33368 10.1016/j.exphem.2011.03.003 10.1016/j.ajhg.2010.10.031 10.1002/pbc.21039 10.3324/haematol.2012.067488 10.1373/clinchem.2006.080051 10.1016/j.jaci.2009.08.040 10.1016/j.clim.2003.08.002 10.1542/pir.14.8.291 10.3899/jrheum.100718 10.1155/2013/939847 10.1210/jc.2011-2554 10.1097/MOH.0b013e32834114bc 10.1128/JVI.75.10.4952-4953.2001 10.1016/j.jaci.2010.05.005 10.1016/j.jmii.2012.08.017 10.1007/s12026-012-8380-9 10.1016/j.jaci.2009.10.007 10.1182/blood-2009-03-208629 10.1007/978-1-4419-0296-2_4 10.1111/j.1399-3046.2010.01461.x 10.1016/j.jaad.2009.04.046 10.1097/MD.0b013e3181fd8ec3 10.1056/NEJMoa0900082 10.1172/JCI37901 10.1016/j.imbio.2012.08.281 10.1055/s-0032-1326078 10.1038/nm.2958 10.1126/science.1081902 10.1016/j.jaci.2007.08.042 10.1056/NEJMoa0810739 10.1128/CMR.00001-09 10.1007/s00401-010-0639-4 10.1016/S1081-1206(10)61085-X 10.3389/fimmu.2012.00189 10.1016/j.autrev.2012.07.021 10.1016/j.clim.2004.02.008 10.1016/j.jaci.2011.06.047 10.1097/01.all.0000191886.12645.79 10.1038/ng.265 10.1128/JVI.00917-12 10.1016/j.clim.2010.02.007 10.1046/j.1365-2249.1999.00898.x 10.1016/j.clim.2009.03.519 10.1111/j.1365-4632.2012.05769.x 10.1038/nm1395 10.3109/08830185.2011.644607 10.1172/JCI64837 10.1007/s10875-006-8144-1 10.1007/s10875-012-9845-2 10.1007/s10875-013-9870-9 10.1007/s10875-009-9315-7 10.1016/j.ajhg.2010.01.028 10.1056/NEJMoa1003548 10.1159/000066860 10.1016/j.clim.2009.08.017 10.1002/art.33416 10.1111/j.1525-1470.2005.22320.x 10.1038/ng.278 10.1016/j.clim.2009.12.003 10.4103/0028-3886.82768 10.1016/j.humimm.2010.02.002 10.1172/JCI35700 10.1111/j.1398-9995.2009.02211.x 10.1016/j.trstmh.2005.11.003 10.1016/j.autrev.2011.04.012 10.1080/00365540510034536 10.1182/blood.V97.2.376 10.1542/peds.2007-1863 10.1016/j.ijporl.2014.03.026 10.1038/ki.2011.152 10.1056/NEJMoa0905506 10.1016/j.clpt.2004.01.012 10.1182/blood-2014-04-570101 10.1016/S1081-1206(10)60842-3 10.1136/jmg.2007.053397 10.1016/j.clim.2003.11.011 10.1016/j.jaci.2009.09.035 10.1016/j.clim.2009.10.003 10.1016/j.clim.2009.10.002 10.1182/blood.V99.5.1544 10.1111/j.1399-3046.2011.01641.x 10.1016/j.vaccine.2012.11.010 10.2174/156652312799789253 10.1097/MD.0b013e31825f95b9 10.1016/j.jaci.2014.10.010 10.1016/S1079-9796(03)00168-2 10.1007/s10875-010-9452-z 10.1016/j.jaci.2009.10.022 10.1084/jem.20101568 10.1016/j.ijporl.2010.08.014 10.1111/j.1365-2249.2011.04335.x 10.1136/jmg.2005.032946 10.1016/j.bbmt.2010.12.714 10.1002/pbc.22386 10.1002/pbc.21081 10.1016/j.blre.2008.03.009 10.1016/j.clim.2009.10.006 10.1182/blood-2011-04-351254 10.1086/587669 10.1016/j.jpeds.2004.08.021 10.1093/intimm/dxn134 10.3389/fimmu.2012.00210 10.1016/j.clim.2010.08.010 10.1159/000135694 10.1136/jmedgenet-2012-100759 10.1002/pbc.22793 10.1016/j.rdc.2013.08.001 10.1097/MD.0b013e318190cfb7 10.1016/j.hoc.2012.10.003 10.1073/pnas.0708408104 10.1093/cid/ciu274 10.1182/blood-2012-01-404350 10.1146/annurev-immunol-032713-120222 10.1002/art.10497 10.1182/blood-2009-03-211029 10.1038/leu.2011.371 10.2174/187152611794407746 10.1023/A:1025373601374 10.1093/infdis/150.5.707 10.1111/j.1365-3083.2011.02609.x 10.1038/nrd3011 10.1016/j.jaci.2011.03.028 10.1016/j.jaci.2014.02.025 10.1074/jbc.M111.225870 10.1371/journal.pone.0039995 10.1111/j.1365-2249.2012.04643.x 10.2174/138920210793175921 10.1016/j.clim.2003.12.005 10.1038/jidsymp.2009.6 10.1007/s11882-012-0281-4 10.1016/j.ymgme.2011.07.007 10.1056/NEJMoa0901053 10.1182/blood-2010-01-259168 10.1038/mt.2010.232 10.1002/pbc.23231 10.1097/00006454-198805001-00007 10.3389/fimmu.2012.00209 10.1056/NEJMc0911468 10.1007/s10875-008-9270-8 10.1111/j.1365-2249.2007.03432.x 10.1111/pcmr.12051 10.1183/09031936.00197710 10.1056/NEJMoa1102140 10.1016/j.jaci.2011.03.042 10.1146/annurev-med-041610-134208 10.3899/jrheum.081313 10.1111/j.1600-6143.2012.04124.x 10.1164/rccm.201002-0271OC 10.1111/j.1365-2141.2007.06880.x 10.1016/j.imlet.2012.01.007 10.1111/j.1538-7836.2011.04274.x 10.1038/nrrheum.2013.174 10.1016/j.cell.2005.12.030 10.1016/j.jaci.2011.01.061 10.1084/jem.20111316 10.1038/nrmicro1428 10.1002/art.30378 10.1016/S1081-1206(10)61142-8 10.1007/978-1-4419-1599-3_15 10.1038/nm.3746 10.1016/j.immuni.2010.08.014 10.1016/j.jaci.2014.02.013 10.1159/000323903 10.1203/00006450-200007000-00004 10.1016/j.ijporl.2012.11.027 10.1007/s004670000550 10.1007/s40261-014-0208-z 10.1016/j.jaci.2009.10.049 10.1385/CRIAI:20:1:61 10.1172/JCI75746 10.1073/pnas.1106015108 10.1001/jamadermatol.2014.5641 10.1007/s12185-011-0968-7 10.1046/j.1365-2249.1996.d01-764.x 10.1111/j.1600-065X.2006.00451.x 10.1016/j.ajhg.2014.05.007 10.1111/j.1365-2265.2010.03862.x 10.1007/978-1-4419-6612-4_43 10.1056/NEJMoa0805817 10.1097/MPH.0b013e3181e62663 10.1007/s00467-010-1609-8 10.1186/1824-7288-38-8 10.1084/jem.20091245 10.1007/978-1-4419-6448-9_16 10.1016/j.clim.2009.08.006 10.1016/j.ajhg.2011.07.022 10.1111/j.1365-2249.2004.02492.x 10.1016/j.jaci.2014.01.041 10.1002/art.25035 10.1016/j.jaci.2012.07.045 10.1056/NEJMoa1013068 10.1016/j.jaci.2011.03.041 10.1016/j.iac.2008.01.003 10.1038/nature01461 10.1016/j.jaci.2010.06.029 10.1007/s12185-009-0322-5 10.1182/blood-2011-10-385377 10.1016/j.ijporl.2010.03.053 10.1073/pnas.96.15.8693 10.1136/thorax.58.3.252 10.1097/BOR.0000000000000059 10.1002/art.25057 10.1016/j.pcl.2012.03.005 10.1056/NEJM200005253422113 10.1182/blood-2012-12-475566 10.1007/s10875-013-9908-z 10.1097/MD.0b013e3182060469 10.1016/j.jaci.2012.07.002 10.1111/j.1749-6632.2011.06389.x 10.1016/j.autrev.2012.07.028 10.1172/JCI26121 10.1007/s10875-012-9858-x 10.1016/j.jinf.2012.03.020 10.1371/journal.pone.0044010 10.1007/s11926-012-0239-5 10.1093/intimm/dxl131 10.2500/ajra.2013.27.3831 10.1159/000203646 10.1186/1546-0096-7-14 10.1038/ejhg.2013.40 10.1111/j.1365-2141.2008.07416.x 10.1016/j.imbio.2012.09.001 10.1172/JCI35798 10.1177/1759720X13502629 10.1016/j.jdermsci.2007.01.002 10.1097/MPG.0000000000000621 10.1111/j.1749-6632.2011.06280.x 10.1136/ard.2011.149922 10.1016/j.clim.2012.03.002 10.1007/s10875-012-9755-3 10.1007/s10875-007-9103-1 10.1111/j.1440-1754.2007.01283.x 10.1016/j.jaci.2011.10.005 10.1111/j.1600-0609.2009.01368.x 10.1056/NEJMoa0809568 10.1002/pbc.22836 10.1016/j.autrev.2012.08.012 10.1016/j.clim.2012.07.016 10.1378/chest.13-0603 10.1097/ACI.0b013e328358cc0b 10.1097/ACI.0b013e3280106b65 10.1056/NEJMoa053750 10.1155/2012/261470 10.3324/haematol.2012.068791 10.1016/S0065-2776(07)95002-6 10.1016/j.survophthal.2009.11.001 10.1002/ppul.21277 10.1186/1750-1172-7-S1-S6 10.1007/978-0-387-72005-0_6 10.1016/j.oooo.2012.04.005 10.1007/s11882-002-0067-1 10.2119/molmed.2011.00198 10.1182/blood-2007-03-076679 10.1007/s10875-012-9838-1 10.1371/journal.pgen.1000833 10.1111/j.1365-2141.2011.08863.x 10.1001/jama.2014.9132 10.1111/j.1537-2995.2010.02588.x 10.1007/s12016-009-8129-y 10.1016/j.clim.2013.03.016 10.1182/blood-2007-12-127878 10.1002/ppul.22532 10.1002/art.30399 10.1097/00002030-200003100-00004 10.1126/science.1224026 10.3324/haematol.10172 10.1159/000092508 10.1080/15476910802129646 10.1056/NEJM200002033420504 10.1016/S1081-1206(10)60572-8 10.1136/archdischild-2011-300691 10.1016/j.ijantimicag.2010.11.027 10.1136/gut.2005.081927 10.1038/nature13386 10.1902/jop.2008.070440 10.1056/NEJMoa1301296 10.1016/j.jaci.2008.09.045 10.1074/jbc.M109.047464 10.1128/JCM.01350-10 10.1007/s10875-012-9814-9 10.1038/mt.2011.166 10.1016/j.leukres.2010.01.024 10.1111/j.1651-2227.2009.01250.x 10.1073/pnas.1202249109 10.1016/j.jpeds.2005.04.017 10.1080/15257770.2011.630852 10.1111/j.1365-2249.2009.04062.x 10.1007/s10096-010-0999-7 10.1016/j.jim.2009.01.002 10.2119/molmed.2011.00195 10.1016/j.canlet.2005.04.023 10.1182/blood-2008-02-141937 10.4103/2156-7514.103018 10.1016/j.jaci.2012.08.054 10.5414/CNP57069 10.1182/blood.V99.3.872 10.1182/blood-2010-02-267583 10.1186/2049-6958-7-4 10.1136/jmg.2011.089532 10.1182/asheducation-2009.1.344 10.1007/s00439-013-1265-8 10.1016/j.clim.2011.06.003 10.1016/j.jaci.2012.02.054 10.1093/qjmed/hci112 10.1016/j.jaci.2010.02.018 10.1186/1750-1172-8-27 10.1111/j.1749-6632.2011.06265.x 10.1002/cyto.b.20552 10.1016/j.jaci.2010.04.016 10.1177/039463201102400318 10.1182/blood-2010-06-284935 10.1016/S0190-9622(84)70149-6 10.1084/jem.20080789 10.1172/JCI18937 10.1016/j.beem.2010.08.004 10.1038/ng1044 10.1136/annrheumdis-2012-201818 10.1002/eji.200939385 10.1016/j.jaci.2011.03.033 10.1111/pde.12036 10.1016/j.jaci.2011.07.055 10.1111/j.1399-3046.2007.00702.x 10.1001/archdermatol.2008.510 10.3324/haematol.2010.030395 10.1111/bjd.13247 10.1186/1750-1172-7-S1-S5 10.1007/s12185-012-1008-y 10.1002/art.30187 10.1097/BOR.0b013e328349c3b1 10.1182/asheducation.V2012.1.301.3798316 10.1177/039463200802100211 10.1182/blood-2010-01-256099 10.1038/bmt.2009.207 10.1111/cge.12484 10.1182/blood-2010-11-319376 10.1016/S1071-9091(03)00026-3 10.1084/jem.20110325 10.1016/j.jaci.2011.06.043 10.1007/s12026-008-8085-2 10.1111/j.1774-9987.2005.00227.x 10.1172/JCI62620 10.1038/ng.2739 10.1097/MOH.0b013e32835aef1c 10.1016/j.smim.2006.07.008 10.1002/art.34409 10.1097/MOP.0b013e32834ea739 10.1007/s10875-012-9698-8 10.1182/blood-2010-01-254417 10.1111/j.1600-0609.2011.01619.x 10.3389/fimmu.2013.00351 10.1016/j.jaci.2013.07.052 10.1097/MPH.0b013e31826781ad 10.1182/blood-2005-01-0319 10.1016/j.ajhg.2011.04.018 10.1097/00006454-200204000-00004 10.1093/hmg/ddi027 10.1111/j.1600-0560.2007.00816.x 10.1016/j.jaci.2013.06.013 10.1001/archdermatol.2010.86 10.1542/peds.2006-3613 10.1016/j.immuni.2012.03.016 10.1016/j.ajhg.2012.08.006 10.1016/j.clim.2008.11.003 10.1093/jnci/djk057 10.1111/j.1399-3038.2010.01136.x 10.1016/j.jaut.2009.11.014 10.1016/j.jaci.2013.09.044 10.1038/embor.2011.248 10.1016/j.clim.2010.09.010 10.1093/rheumatology/keh479 10.1111/cei.12160 10.1002/(SICI)1521-4141(199901)29:01<367::AID-IMMU367>3.0.CO;2-4 10.1016/j.jpeds.2011.02.039 10.1182/blood-2011-06-362533 10.1172/JCI61014 10.1007/s10875-013-9873-6 10.1007/s10875-009-9357-x 10.1002/(SICI)1099-0496(199609)22:3<167::AID-PPUL5>3.0.CO;2-M 10.1016/j.jaci.2006.01.043 10.1172/JCI40231 10.1086/525263 10.1097/BOR.0b013e32835680c6 10.1002/pbc.23205 10.1038/bmt.2011.140 10.1038/nature11583 10.1007/s00431-008-0718-x 10.1111/j.1399-3038.2010.01010.x 10.1111/j.1600-0609.2011.01617.x 10.1016/j.jaci.2012.11.054 10.1084/jem.20091669 10.1016/j.jaci.2010.05.021 10.1097/MOH.0b013e32831ac557 10.1097/ACI.0b013e3283327da5 10.1001/archderm.1985.01660070054014 10.1111/j.1538-7836.2010.03898.x 10.1038/bmt.2012.207 10.1016/j.humimm.2010.06.002 10.1007/BF01955519 10.1002/art.34332 10.1097/ACI.0b013e32833fea85 10.1111/j.1365-4632.2006.02758.x 10.1016/j.clim.2003.10.007 10.1016/j.anai.2011.03.009 10.1182/blood-2013-12-539858 10.1016/j.jaip.2013.09.013 10.1073/pnas.0903543106 10.1016/j.clim.2012.01.012 10.1515/jpem.2011.012 10.1038/nature04702 10.1155/2010/580197 10.1006/clim.2000.4994 10.1177/0009922810370057 10.1038/ni.1662 10.2215/CJN.01260212 10.1007/s00431-012-1765-x 10.1007/s10875-010-9498-y 10.1016/S0041-1345(03)00713-9 10.1016/j.jaci.2010.02.040 10.1111/j.1600-065X.2009.00764.x 10.1182/blood-2012-08-452482 10.1097/00006454-200011000-00020 10.1086/605581 10.1016/j.mrfmmm.2011.06.008 10.1097/MOP.0b013e3283623b9f 10.1016/j.clim.2013.11.008 10.1038/nrendo.2010.40 10.1186/1750-1172-7-42 10.1128/CVI.00022-10 10.1097/MOH.0b013e3282f2bcce 10.2215/CJN.06281208 10.1038/nrrheum.2011.94 10.1038/sj.bmt.1702446 10.1056/NEJMoa0807865 10.1016/j.jaci.2012.05.046 10.4103/0255-0857.19904 10.1016/j.jaci.2011.09.027 10.1590/S0041-87812001000600006 10.1038/ng.749 10.1016/j.jpeds.2005.10.004 10.1128/JVI.01850-12 10.1016/j.clim.2006.10.002 10.1111/j.1365-2249.2011.04384.x 10.4049/jimmunol.1202526 10.1016/j.jaci.2010.02.012 10.1080/08880010151114741 10.1056/NEJM199902183400703 10.1093/cid/ciu215 10.1007/s10875-012-9806-9 10.1186/1750-1172-7-13 10.1016/j.clim.2011.05.007 10.1177/039463201002300134 10.4049/jimmunol.166.2.1308 10.1097/01.md.0000229482.27398.ad 10.1902/jop.2009.080225 10.1056/NEJMoa0810719 10.1182/blood-2009-02-207845 10.1002/art.30215 10.1007/s12026-009-8108-7 10.1111/j.1744-313X.2012.01105.x 10.1182/blood-2011-05-352716 10.1016/j.clim.2014.03.014 10.1016/S1081-1206(10)63442-4 10.1172/JCI39748 10.1111/trf.12663 10.1016/j.jaci.2006.10.007 10.1016/j.immuni.2013.09.002 10.1016/j.rmed.2011.10.019 10.1182/blood-2014-08-591370 10.1182/blood-2012-10-461491 10.1146/annurev.immunol.25.022106.141627 10.1111/j.1468-3083.2011.04442.x 10.1016/j.jpeds.2012.01.056 10.1016/j.jaci.2009.07.053 10.1016/j.autrev.2014.01.046 10.1097/ACI.0b013e328314b621 10.1016/j.jaci.2011.01.048 10.1111/myc.12049 10.1016/B978-0-12-386509-0.00007-7 10.1002/art.24222 10.1164/rccm.200304-505SO 10.1097/INF.0b013e3181c09067 10.1016/j.vaccine.2007.01.119 10.1080/00365540600978955 10.1097/MD.0b013e318187ed81 10.1056/NEJMoa051568 10.1172/JCI10993 10.1093/clinchem/41.4.586 10.1016/j.jaci.2013.11.018 10.1055/s-0031-1287826 10.1016/j.jaci.2013.12.1077 10.1073/pnas.1221211110 10.2500/ajra.2011.25.3653 10.1172/JCI16774 10.1016/j.jpeds.2010.12.014 10.1172/JCI26956 10.1007/s00018-011-0835-y 10.1182/blood-2011-12-395707 10.1136/jmedgenet-2012-101483 10.1016/j.jaci.2011.11.043 10.1016/j.vaccine.2010.04.057 10.1038/ng.757 10.1517/14712598.2013.778239 10.1182/blood-2004-12-4861 10.1002/pbc.22357 10.1016/j.jaci.2008.08.018 10.1172/JCI79100 10.1542/peds.2012-0899 10.1016/j.jaci.2013.01.046 10.1016/j.jaci.2008.08.026 10.1155/2012/353250 10.1182/blood-2011-09-378364 10.1172/JCI59259 10.1111/j.1399-0004.2011.01658.x 10.1182/blood-2008-04-153361 10.1007/s11882-010-0134-y 10.1111/j.1742-4658.2011.08134.x 10.1182/blood-2009-02-202796 10.1111/j.1399-3046.2010.01292.x 10.1111/cei.12039 10.1002/art.22966 10.1016/j.jaci.2007.11.014 10.1016/j.cub.2010.10.022 10.1007/s10875-012-9702-3 10.3109/09537104.2012.741275 10.1056/NEJMoa0900381 10.1172/JCI71927 10.1182/blood-2011-09-377945 10.1016/j.berh.2014.05.005 10.1542/peds.2007-0640 10.1186/1471-2350-14-7 10.1371/journal.pmed.0030289 10.1016/j.ajhg.2012.04.015 10.1016/j.jaci.2008.09.037 10.1007/s12016-013-8378-7 10.1128/MCB.01730-08 10.1056/NEJMoa1312625 10.1016/j.semarthrit.2010.11.003 10.1016/j.jaci.2009.12.989 10.1007/s10875-012-9664-5 10.1177/0883073808315409 10.1002/pbc.20887 10.1182/blood-2012-07-441857 10.1097/RHU.0b013e3181e969b9 10.1016/j.jpeds.2010.12.042 10.1002/pbc.23160 10.1007/s10545-013-9664-5 10.1073/pnas.1220098110 10.1016/j.gene.2012.10.062 10.1002/ajh.23190 10.1111/j.1365-2249.2008.03681.x 10.1038/nature10246 10.1038/ni.2457 10.1126/scitranslmed.3002716 10.1111/j.1399-3046.2011.01563.x 10.1002/art.23400 10.1016/j.jaci.2012.07.035 10.1016/j.jaci.2009.08.043 10.1084/jem.20120831 10.1016/j.jaci.2011.11.013 10.1016/j.jaci.2004.02.003 10.1172/JCI60224 10.1542/peds.112.4.e325 10.1016/j.bbmt.2008.10.007 10.1126/science.1255904 10.1111/j.1600-0463.2006.apm_522.x 10.1056/NEJMoa0907206 10.1097/00005792-200111000-00006 10.1093/clinids/3.Supplement_1.S184 10.1097/ACI.0b013e3283594219 10.1002/(SICI)1096-9098(200003)73:3<172::AID-JSO11>3.0.CO;2-Z 10.1002/cyto.b.20432 10.1056/NEJMoa0904485 10.1136/jmg.2003.017640 10.1016/j.clim.2009.05.014 10.1097/BOR.0b013e328349c430 10.1016/j.jaci.2007.08.048 10.1016/j.jaci.2009.06.009 10.1016/j.jpeds.2012.09.050 10.1126/science.1139522 10.1002/ajh.23559 10.1002/humu.20740 10.1111/bjh.12271 10.1155/2010/380291 10.1111/j.1365-2141.2011.08880.x 10.1111/j.0105-2896.2005.00233.x 10.1053/j.gastro.2014.01.015 10.1016/j.jaci.2012.01.053 10.1016/j.clim.2009.03.514 10.1111/j.1399-3046.2011.01545.x 10.1007/s10875-008-9171-x 10.1038/nrrheum.2013.61 10.1086/606059 10.1007/s10875-012-9859-9 10.1016/j.jaci.2012.11.050 10.1016/j.clim.2009.01.003 10.1056/NEJMoa1208487 10.1016/j.jaci.2013.02.028 10.1007/s10875-012-9750-8 10.1016/j.amjoto.2007.11.003 10.1159/000338816 10.1007/s10875-014-0012-9 10.1038/bmt.2008.308 10.1007/s10875-012-9749-1 10.1126/science.1234864 10.1210/jc.2010-0488 10.1097/01.moh.0000149609.37309.0a 10.1038/ng.3040 10.1177/039463201002300434 10.3324/haematol.2010.033910 10.1097/MNH.0b013e328345848b 10.1097/00006454-199902000-00016 10.1182/blood-2011-05-356352 |
ContentType | Journal Article |
Copyright | 2015 Published by Elsevier Inc. Copyright Elsevier Limited Nov 2015 |
Copyright_xml | – notice: 2015 – notice: Published by Elsevier Inc. – notice: Copyright Elsevier Limited Nov 2015 |
CorporateAuthor | Joint Task Force on Practice Parameters, representing the American Academy of Allergy, Asthma & Immunology; the American College of Allergy, Asthma & Immunology; and the Joint Council of Allergy, Asthma & Immunology |
CorporateAuthor_xml | – name: Joint Task Force on Practice Parameters, representing the American Academy of Allergy, Asthma & Immunology; the American College of Allergy, Asthma & Immunology; and the Joint Council of Allergy, Asthma & Immunology |
DBID | CGR CUY CVF ECM EIF NPM AAYXX CITATION 7SS 7T5 H94 K9. NAPCQ 7X8 |
DOI | 10.1016/j.jaci.2015.04.049 |
DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef Entomology Abstracts (Full archive) Immunology Abstracts AIDS and Cancer Research Abstracts ProQuest Health & Medical Complete (Alumni) Nursing & Allied Health Premium MEDLINE - Academic |
DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef Entomology Abstracts AIDS and Cancer Research Abstracts ProQuest Health & Medical Complete (Alumni) Nursing & Allied Health Premium Immunology Abstracts MEDLINE - Academic |
DatabaseTitleList | MEDLINE - Academic MEDLINE AIDS and Cancer Research Abstracts Entomology Abstracts |
Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
DeliveryMethod | fulltext_linktorsrc |
Discipline | Medicine |
EISSN | 1097-6825 |
Editor | Bonilla, Francisco A. Khan, David A. |
Editor_xml | – sequence: 28 givenname: Francisco A. surname: Bonilla fullname: Bonilla, Francisco A. – sequence: 29 givenname: David A. surname: Khan fullname: Khan, David A. |
EndPage | 1205.e78 |
ExternalDocumentID | 3860535751 10_1016_j_jaci_2015_04_049 26371839 S0091674915008830 1_s2_0_S0091674915008830 |
Genre | Journal Article Research Support, N.I.H., Intramural Practice Guideline |
GeographicLocations | Ohio |
GeographicLocations_xml | – name: Ohio |
GrantInformation_xml | – fundername: National Institutes of Health – fundername: Division of Intramural Research, National Institute of Allergy and Infectious Diseases – fundername: Intramural NIH HHS |
GroupedDBID | --- --K --M -~X .1- .55 .FO .GJ .XZ .~1 0R~ 1B1 1P~ 1RT 1~. 1~5 354 3O- 3V. 4.4 457 4G. 53G 5GY 5RE 5VS 7-5 71M 7RV 7X7 8C1 8F7 8FE 8FH 8P~ 9JM AAAJQ AABNK AACTN AAEDT AAEDW AAIKJ AAKOC AALRI AAOAW AAQFI AAQXK AARKO AAXKI AAXUO ABBQC ABFNM ABJNI ABLJU ABMAC ABMZM ABOCM ABXDB ACDAQ ACGFO ACGFS ACPRK ACRLP ADBBV ADEZE ADFRT ADMUD ADVLN AEBSH AEKER AENEX AFFNX AFJKZ AFKRA AFKWA AFRAH AFRHN AFTJW AFXIZ AGEKW AGHFR AGUBO AGYEJ AHHHB AHMBA AIEXJ AIKHN AITUG AJOXV AJRQY AJUYK AKRWK ALMA_UNASSIGNED_HOLDINGS AMFUW AMRAJ ANZVX ASPBG AVWKF AXJTR AZFZN BBNVY BENPR BHPHI BKOJK BLXMC BNPGV BPHCQ BVXVI C45 CAG CJTIS COF CS3 DU5 EBS EFJIC EJD EO8 EO9 EP2 EP3 EX3 F5P FDB FEDTE FGOYB FIRID FNPLU FYGXN G-2 G-Q GBLVA HCIFZ HDU HMK HMO HVGLF HZ~ IHE J1W J5H K-O KOM L7B LK8 LUGTX M27 M2O M41 M7P MO0 N4W N9A O-L O9- O9~ OAUVE OBH ODZKP OHH OHT OK0 OK1 OVD OZT P-8 P-9 P2P PC. PQQKQ PROAC Q38 R2- RIG ROL RPZ SAE SCC SDF SDG SDP SEL SES SEW SJN SPCBC SSH SSI SSZ T5K TEORI TWZ UGJ UNMZH UV1 WH7 WOW WUQ X7M XFW YOC YQI YQJ Z5R ZGI ZXP ZY1 ~02 ~G- ~KM ABLVK ABYKQ AHPSJ AJBFU EFLBG LCYCR ZA5 CGR CUY CVF ECM EIF NPM AAYXX ACRPL CITATION 7SS 7T5 H94 K9. NAPCQ 7X8 |
ID | FETCH-LOGICAL-c722t-2b6694648cc8041ef5ac710a51a2718c6b409ffc3e1d903bd4ef4245b98c43733 |
IEDL.DBID | AIKHN |
ISSN | 0091-6749 |
IngestDate | Sat Oct 26 01:58:56 EDT 2024 Fri Oct 25 03:48:04 EDT 2024 Thu Oct 10 18:56:13 EDT 2024 Fri Dec 06 01:05:17 EST 2024 Sat Sep 28 07:59:08 EDT 2024 Fri Feb 23 02:34:44 EST 2024 Tue Oct 15 22:55:45 EDT 2024 |
IsDoiOpenAccess | false |
IsOpenAccess | true |
IsPeerReviewed | true |
IsScholarly | true |
Issue | 5 |
Keywords | SS JCAAI Summary statement Severe combined immunodeficiency American Academy of Allergy, Asthma & Immunology Hematopoietic stem cell therapy SCID American College of Allergy, Asthma & Immunology Joint Council of Allergy, Asthma & Immunology ACAAI Primary immunodeficiency disease AAAAI PIDD HSCT |
Language | English |
License | Published by Elsevier Inc. |
LinkModel | DirectLink |
MergedId | FETCHMERGED-LOGICAL-c722t-2b6694648cc8041ef5ac710a51a2718c6b409ffc3e1d903bd4ef4245b98c43733 |
Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Instructional Material/Guideline-2 ObjectType-Feature-3 content type line 23 ObjectType-Feature-2 |
OpenAccessLink | http://www.jacionline.org/article/S0091674915008830/pdf |
PMID | 26371839 |
PQID | 1731779797 |
PQPubID | 105664 |
ParticipantIDs | proquest_miscellaneous_1735923265 proquest_miscellaneous_1732307594 proquest_journals_1731779797 crossref_primary_10_1016_j_jaci_2015_04_049 pubmed_primary_26371839 elsevier_sciencedirect_doi_10_1016_j_jaci_2015_04_049 elsevier_clinicalkeyesjournals_1_s2_0_S0091674915008830 |
PublicationCentury | 2000 |
PublicationDate | 2015-11-01 |
PublicationDateYYYYMMDD | 2015-11-01 |
PublicationDate_xml | – month: 11 year: 2015 text: 2015-11-01 day: 01 |
PublicationDecade | 2010 |
PublicationPlace | United States |
PublicationPlace_xml | – name: United States – name: St. Louis |
PublicationTitle | Journal of allergy and clinical immunology |
PublicationTitleAlternate | J Allergy Clin Immunol |
PublicationYear | 2015 |
Publisher | Elsevier Inc Elsevier Limited |
Publisher_xml | – name: Elsevier Inc – name: Elsevier Limited |
References | Bateman (10.1016/j.jaci.2015.04.049_bib335) 2012; 170 Fazzi (10.1016/j.jaci.2015.04.049_bib588) 2013; 12 Boackle (10.1016/j.jaci.2015.04.049_bib735) 2003; 6 Leiva (10.1016/j.jaci.2015.04.049_bib414) 2013; 33 Perez de Diego (10.1016/j.jaci.2015.04.049_bib612) 2010; 33 Neven (10.1016/j.jaci.2015.04.049_bib650) 2010; 62 Kang (10.1016/j.jaci.2015.04.049_bib546) 2012; 507 Oishi (10.1016/j.jaci.2015.04.049_bib417) 2013; 31 Jeru (10.1016/j.jaci.2015.04.049_bib657) 2011; 63 Yong (10.1016/j.jaci.2015.04.049_bib44) 2010; 135 Yamamoto (10.1016/j.jaci.2015.04.049_bib754) 1995; 41 Sanchez (10.1016/j.jaci.2015.04.049_bib646) 2013; 39 Ocampo (10.1016/j.jaci.2015.04.049_bib397) 2013; 27 Lhotta (10.1016/j.jaci.2015.04.049_bib736) 2009; 4 di Carlo (10.1016/j.jaci.2015.04.049_bib53) 2000; 73 Ozen (10.1016/j.jaci.2015.04.049_bib668) 2014; 10 Gavino (10.1016/j.jaci.2015.04.049_bib630) 2014; 59 Murray (10.1016/j.jaci.2015.04.049_bib306) 2010; 146 Hambleton (10.1016/j.jaci.2015.04.049_bib608) 2013; 110 Pachlopnik Schmid (10.1016/j.jaci.2015.04.049_bib173) 2012; 209 Fuss (10.1016/j.jaci.2015.04.049_bib367) 2013; 33 van der Burg (10.1016/j.jaci.2015.04.049_bib100) 2006; 116 Zhang (10.1016/j.jaci.2015.04.049_bib276) 2014; 133 Zielen (10.1016/j.jaci.2015.04.049_bib409) 2000; 68 Kroger (10.1016/j.jaci.2015.04.049_bib81) 2006; 55 Casanova (10.1016/j.jaci.2015.04.049_bib109) 2012; 36 Crequer (10.1016/j.jaci.2015.04.049_bib175) 2012; 7 Stiehm (10.1016/j.jaci.2015.04.049_bib399) 2008; 5 Melki (10.1016/j.jaci.2015.04.049_bib707) 2013; 131 Ballanti (10.1016/j.jaci.2015.04.049_bib756) 2011; 10 Pasic (10.1016/j.jaci.2015.04.049_bib102) 2009; 98 Torrelo (10.1016/j.jaci.2015.04.049_bib698) 2010; 62 Bonagura (10.1016/j.jaci.2015.04.049_bib407) 2013; 33 Seger (10.1016/j.jaci.2015.04.049_bib542) 2008; 140 Kemp (10.1016/j.jaci.2015.04.049_bib185) 2008; 44 Genel (10.1016/j.jaci.2015.04.049_bib742) 2005; 37 Renner (10.1016/j.jaci.2015.04.049_bib257) 2009; 124 Stewart (10.1016/j.jaci.2015.04.049_bib224) 2007; 104 Conley (10.1016/j.jaci.2015.04.049_bib317) 2012; 209 Leach (10.1016/j.jaci.2015.04.049_bib58) 2006 Sullivan (10.1016/j.jaci.2015.04.049_bib232) 2008; 28 Ramoz (10.1016/j.jaci.2015.04.049_bib602) 2002; 32 Aucouturier (10.1016/j.jaci.2015.04.049_bib400) 1987; 68 Sorensen (10.1016/j.jaci.2015.04.049_bib406) 1996; 22 Markert (10.1016/j.jaci.2015.04.049_bib234) 2010; 135 Bouvry (10.1016/j.jaci.2015.04.049_bib362) 2013; 41 Ozen (10.1016/j.jaci.2015.04.049_bib676) 2011; 38 Stepensky (10.1016/j.jaci.2015.04.049_bib147) 2013; 131 Felgentreff (10.1016/j.jaci.2015.04.049_bib126) 2011; 141 Campo (10.1016/j.jaci.2015.04.049_bib558) 2012; 7 Soresina (10.1016/j.jaci.2015.04.049_bib324) 2009; 29 Picard (10.1016/j.jaci.2015.04.049_bib182) 2009; 39 Gathmann (10.1016/j.jaci.2015.04.049_bib332) 2014; 134 Androphy (10.1016/j.jaci.2015.04.049_bib607) 1984; 11 Gokturk (10.1016/j.jaci.2015.04.049_bib165) 2012; 39 Turvey (10.1016/j.jaci.2015.04.049_bib309) 2012; 32 Lucas (10.1016/j.jaci.2015.04.049_bib354) 2014; 211 Suzuki (10.1016/j.jaci.2015.04.049_bib562) 2010; 182 Cagdas (10.1016/j.jaci.2015.04.049_bib441) 2012; 171 Gouda (10.1016/j.jaci.2015.04.049_bib487) 2013; 2013 Fujioka (10.1016/j.jaci.2015.04.049_bib314) 2011; 53 Peron (10.1016/j.jaci.2015.04.049_bib223) 2008; 205 Cunningham-Rundles (10.1016/j.jaci.2015.04.049_bib331) 2012; 2012 McDermott (10.1016/j.jaci.2015.04.049_bib594) 2011; 118 Beser (10.1016/j.jaci.2015.04.049_bib718) 2015; 60 Kuijpers (10.1016/j.jaci.2015.04.049_bib348) 2010; 120 Kaufmann (10.1016/j.jaci.2015.04.049_bib537) 2012; 343 Dale (10.1016/j.jaci.2015.04.049_bib593) 2011; 118 Scott-Algara (10.1016/j.jaci.2015.04.049_bib245) 2010; 115 Horwitz (10.1016/j.jaci.2015.04.049_bib571) 2014; 123 Sharp (10.1016/j.jaci.2015.04.049_bib308) 2011; 49 Keles (10.1016/j.jaci.2015.04.049_bib419) 2010; 21 Antoccia (10.1016/j.jaci.2015.04.049_bib208) 2006; 1 Guo (10.1016/j.jaci.2015.04.049_bib610) 2011; 208 Roifman (10.1016/j.jaci.2015.04.049_bib129) 2006; 117 Hughes (10.1016/j.jaci.2015.04.049_bib641) 2012; 122 Sawada (10.1016/j.jaci.2015.04.049_bib322) 2003; 112 Buckley (10.1016/j.jaci.2015.04.049_bib45) 2010; 125 von Bernuth (10.1016/j.jaci.2015.04.049_bib585) 2008; 321 Freud (10.1016/j.jaci.2015.04.049_bib642) 2006; 214 Du (10.1016/j.jaci.2015.04.049_bib193) 2011; 14 Moller-Kristensen (10.1016/j.jaci.2015.04.049_bib745) 2007; 19 Palmer (10.1016/j.jaci.2015.04.049_bib389) 2010; 50 Poliani (10.1016/j.jaci.2015.04.049_bib107) 2009; 114 Dwyer (10.1016/j.jaci.2015.04.049_bib327) 1988; 7 Al-Dhekri (10.1016/j.jaci.2015.04.049_bib518) 2011; 17 Podjasek (10.1016/j.jaci.2015.04.049_bib369) 2012; 3 Picard (10.1016/j.jaci.2015.04.049_bib584) 2010; 89 Genre (10.1016/j.jaci.2015.04.049_bib336) 2009; 132 Rosenberg (10.1016/j.jaci.2015.04.049_bib514) 2010; 150 Jeremiah (10.1016/j.jaci.2015.04.049_bib700) 2014; 124 d'Hennezel (10.1016/j.jaci.2015.04.049_bib489) 2012; 49 Nurden (10.1016/j.jaci.2015.04.049_bib198) 2011; 9 Buckley (10.1016/j.jaci.2015.04.049_bib393) 2002; 2 Karamchandani-Patel (10.1016/j.jaci.2015.04.049_bib579) 2011; 107 Horn (10.1016/j.jaci.2015.04.049_bib46) 2007; 122 Salavoura (10.1016/j.jaci.2015.04.049_bib84) 2008; 28 de Villartay (10.1016/j.jaci.2015.04.049_bib104) 2009; 650 Kollios (10.1016/j.jaci.2015.04.049_bib478) 2011; 24 Papadaki (10.1016/j.jaci.2015.04.049_bib709) 2012; 7 Whelan (10.1016/j.jaci.2015.04.049_bib428) 2006; 26 Atkinson (10.1016/j.jaci.2015.04.049_bib425) 2007; 120 Duse (10.1016/j.jaci.2015.04.049_bib429) 2010; 23 Athanasakis (10.1016/j.jaci.2015.04.049_bib509) 2012; 3 Garavello (10.1016/j.jaci.2015.04.049_bib724) 2011; 159 Federico (10.1016/j.jaci.2015.04.049_bib376) 2010; 23 Gobert (10.1016/j.jaci.2015.04.049_bib373) 2011; 155 Federici (10.1016/j.jaci.2015.04.049_bib653) 2013; 4 Rieux-Laucat (10.1016/j.jaci.2015.04.049_bib469) 2010; 95 Weckerle (10.1016/j.jaci.2015.04.049_bib486) 2011; 63 Zhang (10.1016/j.jaci.2015.04.049_bib268) 2009; 361 Lee (10.1016/j.jaci.2015.04.049_bib499) 2013; 218 Romero-Quintana (10.1016/j.jaci.2015.04.049_bib528) 2013; 14 Aksentijevich (10.1016/j.jaci.2015.04.049_bib672) 2011; 7 Gorbea (10.1016/j.jaci.2015.04.049_bib615) 2010; 285 Cervera (10.1016/j.jaci.2015.04.049_bib248) 2011; 87 Joshi (10.1016/j.jaci.2015.04.049_bib636) 2006; 100 Tchilian (10.1016/j.jaci.2015.04.049_bib117) 2001; 166 Soza (10.1016/j.jaci.2015.04.049_bib211) 2009; 29 Kanegane (10.1016/j.jaci.2015.04.049_bib312) 2009; 89 Ikinciogullari (10.1016/j.jaci.2015.04.049_bib541) 2005; 9 Bogunovic (10.1016/j.jaci.2015.04.049_bib550) 2012; 337 Donoso (10.1016/j.jaci.2015.04.049_bib753) 2010; 55 Cattoglio (10.1016/j.jaci.2015.04.049_bib141) 2010; 116 Moore (10.1016/j.jaci.2015.04.049_bib253) 2012; 28 Zhan (10.1016/j.jaci.2015.04.049_bib495) 2008; 121 Hsu (10.1016/j.jaci.2015.04.049_bib563) 2011; 118 Nedjai (10.1016/j.jaci.2015.04.049_bib678) 2011; 691 Du (10.1016/j.jaci.2015.04.049_bib97) 2012; 209 Gibson (10.1016/j.jaci.2015.04.049_bib19) 2003; 168 Landesman (10.1016/j.jaci.2015.04.049_bib24) 1981; 3 Hussain (10.1016/j.jaci.2015.04.049_bib160) 2011; 278 Marsh (10.1016/j.jaci.2015.04.049_bib462) 2011; 1238 Ordonez-Rueda (10.1016/j.jaci.2015.04.049_bib500) 2012; 42 Aprikyan (10.1016/j.jaci.2015.04.049_bib507) 2013; 161 Takada (10.1016/j.jaci.2015.04.049_bib38) 2004; 103 Chinn (10.1016/j.jaci.2015.04.049_bib70) 2011; 127 Sonal (10.1016/j.jaci.2015.04.049_bib480) 2012; 5 Sillevis Smitt (10.1016/j.jaci.2015.04.049_bib127) 2013; 25 Bard (10.1016/j.jaci.2015.04.049_bib282) 2008; 144 Seidel (10.1016/j.jaci.2015.04.049_bib463) 2012; 129 Trakadis (10.1016/j.jaci.2015.04.049_bib297) 2014; 37 Bryceson (10.1016/j.jaci.2015.04.049_bib457) 2012; 119 Kawai (10.1016/j.jaci.2015.04.049_bib105) 2012; 32 McCarl (10.1016/j.jaci.2015.04.049_bib144) 2009; 124 Thiel (10.1016/j.jaci.2015.04.049_bib252) 2011; 25 Zhao (10.1016/j.jaci.2015.04.049_bib465) 2011; 80 Browne (10.1016/j.jaci.2015.04.049_bib555) 2012; 119 van den Bruele (10.1016/j.jaci.2015.04.049_bib310) 2010; 29 Gineau (10.1016/j.jaci.2015.04.049_bib217) 2012; 122 Winkelstein (10.1016/j.jaci.2015.04.049_bib305) 2006; 85 Ter Haar (10.1016/j.jaci.2015.04.049_bib679) 2014; 26 Kristinsson (10.1016/j.jaci.2015.04.049_bib403) 2001; 18 Liszewski (10.1016/j.jaci.2015.04.049_bib738) 2008; 26 Pickering (10.1016/j.jaci.2015.04.049_bib758) 2011; 20 Herlin (10.1016/j.jaci.2015.04.049_bib703) 2013; 72 Dasouki (10.1016/j.jaci.2015.04.049_bib269) 2011; 141 Chen (10.1016/j.jaci.2015.04.049_bib55) 2011; 127 Rizzi (10.1016/j.jaci.2015.04.049_bib375) 2011; 128 Rachid (10.1016/j.jaci.2015.04.049_bib47) 2012; 129 Kuehn (10.1016/j.jaci.2015.04.049_bib151) 2014; 345 de Greef (10.1016/j.jaci.2015.04.049_bib220) 2011; 88 Filipovich (10.1016/j.jaci.2015.04.049_bib458) 2011; 11 Puel (10.1016/j.jaci.2015.04.049_bib482) 2010; 207 Ege (10.1016/j.jaci.2015.04.049_bib94) 2005; 105 Stone (10.1016/j.jaci.2015.04.049_bib32) 2009; 131 Schutze (10.1016/j.jaci.2015.04.049_bib645) 2002; 21 Chan (10.1016/j.jaci.2015.04.049_bib72) 2011; 138 Klein (10.1016/j.jaci.2015.04.049_bib510) 2009 Hamidieh (10.1016/j.jaci.2015.04.049_bib519) 2012; 47 Simon (10.1016/j.jaci.2015.04.049_bib687) 2004; 75 Akgul (10.1016/j.jaci.2015.04.049_bib604) 2007; 46 Bustamante (10.1016/j.jaci.2015.04.049_bib547) 2011; 1246 Ferguson (10.1016/j.jaci.2015.04.049_bib702) 2012; 14 Somech (10.1016/j.jaci.2015.04.049_bib170) 2013; 56 Wang (10.1016/j.jaci.2015.04.049_bib549) 2012; 45 Al-Muhsen (10.1016/j.jaci.2015.04.049_bib573) 2008; 122 Marrakchi (10.1016/j.jaci.2015.04.049_bib666) 2011; 365 Stepensky (10.1016/j.jaci.2015.04.049_bib162) 2011; 96 Nadeau (10.1016/j.jaci.2015.04.049_bib177) 2011; 158 Stray-Pedersen (10.1016/j.jaci.2015.04.049_bib172) 2014; 95 Orange (10.1016/j.jaci.2015.04.049_bib637) 2006; 6 Moylett (10.1016/j.jaci.2015.04.049_bib79) 2004; 112 Ozkan (10.1016/j.jaci.2015.04.049_bib398) 2005; 15 Lidar (10.1016/j.jaci.2015.04.049_bib671) 2013; 27 Mori (10.1016/j.jaci.2015.04.049_bib760) 2002; 57 Wei (10.1016/j.jaci.2015.04.049_bib449) 2013; 26 Conley (10.1016/j.jaci.2015.04.049_bib316) 2005; 203 Grier (10.1016/j.jaci.2015.04.049_bib216) 2012; 122 Griffith (10.1016/j.jaci.2015.04.049_bib64) 2008; 122 Kondratenko (10.1016/j.jaci.2015.04.049_bib210) 2007; 601 Nehme |
References_xml | – volume: 135 start-page: 347 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib377 article-title: Good's syndrome remains a mystery after 55 years: a systematic review of the scientific evidence publication-title: Clin Immunol doi: 10.1016/j.clim.2010.01.006 contributor: fullname: Kelesidis – volume: 29 start-page: 432 year: 1997 ident: 10.1016/j.jaci.2015.04.049_bib188 article-title: Relapse of sclerosing cholangitis after liver transplant in patients with hyper-Ig M syndrome publication-title: Transplant Proc doi: 10.1016/S0041-1345(96)00172-8 contributor: fullname: Martinez Ibanez – volume: 134 start-page: 136 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib726 article-title: Effect of adenotonsillectomy in PFAPA syndrome publication-title: Arch Otolaryngol Head Neck Surg doi: 10.1001/archoto.2007.7 contributor: fullname: Licameli – volume: 188 start-page: 2933 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib303 article-title: Colonel Bruton's kinase defined the molecular basis of X-linked agammaglobulinemia, the first primary immunodeficiency publication-title: J Immunol doi: 10.4049/jimmunol.1200490 contributor: fullname: Khan – volume: 170 start-page: 348 year: 1999 ident: 10.1016/j.jaci.2015.04.049_bib4 article-title: Developing clinical guidelines publication-title: West J Med contributor: fullname: Shekelle – volume: 22 start-page: 423 year: 1990 ident: 10.1016/j.jaci.2015.04.049_bib601 article-title: Natural cell-mediated cytotoxicity against various target cells in patients with epidermodysplasia verruciformis publication-title: J Am Acad Dermatol doi: 10.1016/0190-9622(90)70058-P contributor: fullname: Majewski – volume: 135 start-page: 63 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib342 article-title: Lymphocyte characteristics in children with common variable immunodeficiency publication-title: Clin Immunol doi: 10.1016/j.clim.2009.11.010 contributor: fullname: van de Ven – volume: 28 start-page: 1045 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib253 article-title: Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease publication-title: Pediatr Surg Int doi: 10.1007/s00383-012-3175-6 contributor: fullname: Moore – volume: 164 start-page: 263 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib688 article-title: Pyoderma gangrenosum: pathogenetic oriented treatment approaches publication-title: Wien Med Wochenschr doi: 10.1007/s10354-014-0285-x contributor: fullname: Wollina – volume: 117 start-page: 3243 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib71 article-title: Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening publication-title: Blood doi: 10.1182/blood-2010-08-300384 contributor: fullname: Brown – volume: 99 start-page: 178 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib722 article-title: A clinical review of 105 patients with PFAPA (a periodic fever syndrome) publication-title: Acta Paediatr contributor: fullname: Feder – volume: 14 start-page: 64 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib193 article-title: Hodgkin's and non-Hodgkin's lymphomas occurring in two brothers with Wiskott-Aldrich syndrome and review of the literature publication-title: Pediatr Dev Pathol doi: 10.2350/10-01-0787-CR.1 contributor: fullname: Du – volume: 42 start-page: 2395 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib500 article-title: A hypomorphic mutation in the Gfi1 transcriptional repressor results in a novel form of neutropenia publication-title: Eur J Immunol doi: 10.1002/eji.201242589 contributor: fullname: Ordonez-Rueda – volume: 111 start-page: 47 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib323 article-title: “A rose is a rose is a rose,” but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011? publication-title: Adv Immunol doi: 10.1016/B978-0-12-385991-4.00002-7 contributor: fullname: Yong – volume: 121 start-page: 2385 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib624 article-title: Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency publication-title: Blood doi: 10.1182/blood-2012-08-450551 contributor: fullname: Drewniak – volume: 209 start-page: 2323 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib173 article-title: Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”) publication-title: J Exp Med doi: 10.1084/jem.20121303 contributor: fullname: Pachlopnik Schmid – volume: 349 start-page: 1821 year: 2003 ident: 10.1016/j.jaci.2015.04.049_bib87 article-title: Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency publication-title: N Engl J Med doi: 10.1056/NEJMoa031178 contributor: fullname: Dadi – volume: 103 start-page: 1053 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib520 article-title: Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3 publication-title: Thromb Haemost doi: 10.1160/TH09-10-0689 contributor: fullname: Jurk – volume: 136 start-page: 304 year: 2004 ident: 10.1016/j.jaci.2015.04.049_bib743 article-title: Mannan-binding lectin insufficiency in children with recurrent infections of the respiratory system publication-title: Clin Exp Immunol doi: 10.1111/j.1365-2249.2004.02453.x contributor: fullname: Cedzynski – volume: 1246 start-page: 92 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib547 article-title: Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases publication-title: Ann N Y Acad Sci doi: 10.1111/j.1749-6632.2011.06273.x contributor: fullname: Bustamante – volume: 47 start-page: 1339 year: 2000 ident: 10.1016/j.jaci.2015.04.049_bib752 article-title: Complement deficiencies publication-title: Pediatr Clin North Am doi: 10.1016/S0031-3955(05)70274-1 contributor: fullname: Frank – volume: 100 start-page: 2763 year: 2002 ident: 10.1016/j.jaci.2015.04.049_bib37 article-title: Wiskott-Aldrich syndrome in a female publication-title: Blood doi: 10.1182/blood-2002-02-0388 contributor: fullname: Lutskiy – volume: 32 start-page: 690 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib105 article-title: Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient publication-title: J Clin Immunol doi: 10.1007/s10875-012-9684-1 contributor: fullname: Kawai – volume: 114 start-page: 1512 year: 2004 ident: 10.1016/j.jaci.2015.04.049_bib114 article-title: Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3 publication-title: J Clin Invest doi: 10.1172/JCI200422588 contributor: fullname: de Saint Basile – volume: 118 start-page: 5741 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib475 article-title: How I treat autoimmune lymphoproliferative syndrome publication-title: Blood doi: 10.1182/blood-2011-07-325217 contributor: fullname: Rao – volume: 108 start-page: 7148 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib723 article-title: Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.1103681108 contributor: fullname: Stojanov – volume: 128 start-page: 382 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib203 article-title: Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.03.052 contributor: fullname: Micol – volume: 117 start-page: 5892 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib246 article-title: Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations publication-title: Blood doi: 10.1182/blood-2011-01-329052 contributor: fullname: Kuijpers – volume: 110 start-page: 750 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib548 article-title: Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs) publication-title: J Formos Med Assoc doi: 10.1016/j.jfma.2011.11.004 contributor: fullname: Lee – volume: 45 start-page: 1294 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib445 article-title: Hematopoietic SCT in children with Griscelli syndrome: a single-center experience publication-title: Bone Marrow Transplant doi: 10.1038/bmt.2009.358 contributor: fullname: Al-Ahmari – volume: 158 start-page: 342 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib517 article-title: Delayed wound healing in leukocyte adhesion deficiency type 1 publication-title: J Pediatr doi: 10.1016/j.jpeds.2010.07.057 contributor: fullname: Wada – volume: 27 start-page: 89 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib540 article-title: Chronic granulomatous disease publication-title: Hematol Oncol Clin North Am doi: 10.1016/j.hoc.2012.11.002 contributor: fullname: Holland – volume: 117 start-page: S525 issue: suppl year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib43 article-title: Use of intravenous immunoglobulin in human disease: a review of evidence by members of the Primary Immunodeficiency Committee of the American Academy of Allergy, Asthma and Immunology publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2006.01.015 contributor: fullname: Orange – volume: 15 start-page: R30 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib647 article-title: Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature publication-title: Arthritis Res Ther doi: 10.1186/ar4171 contributor: fullname: Rowczenio – volume: 4 start-page: 448 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib270 article-title: New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome publication-title: Mucosal Immunol doi: 10.1038/mi.2011.5 contributor: fullname: Conti – volume: 46 start-page: 552 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib284 article-title: Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation publication-title: Bone Marrow Transplant doi: 10.1038/bmt.2010.169 contributor: fullname: Gatz – volume: 1 start-page: 195 year: 1991 ident: 10.1016/j.jaci.2015.04.049_bib22 article-title: Laboratory screening for the diagnosis of children with primary immunodeficiencies publication-title: J Investig Allergol Clin Immunol contributor: fullname: Carneiro-Sampaio – volume: 158A start-page: 2911 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib250 article-title: Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.35604 contributor: fullname: Kwan – volume: 118 start-page: 4963 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib593 article-title: The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome publication-title: Blood doi: 10.1182/blood-2011-06-360586 contributor: fullname: Dale – volume: 115 start-page: 3231 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib195 article-title: X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options publication-title: Blood doi: 10.1182/blood-2009-09-239087 contributor: fullname: Albert – volume: 211 start-page: 2537 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib354 article-title: Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K publication-title: J Exp Med doi: 10.1084/jem.20141759 contributor: fullname: Lucas – volume: 370 start-page: 911 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib717 article-title: Early-onset stroke and vasculopathy associated with mutations in ADA2 publication-title: N Engl J Med doi: 10.1056/NEJMoa1307361 contributor: fullname: Zhou – volume: 18 start-page: 167 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib405 article-title: Increases in serum immunoglobulins to age-related normal levels in children with IgA and/or IgG subclass deficiency publication-title: Pediatr Allergy Immunol doi: 10.1111/j.1399-3038.2006.00491.x contributor: fullname: Kutukculer – volume: 125 start-page: 424 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib264 article-title: Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2009.10.059 contributor: fullname: Woellner – volume: 28 start-page: 581 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib493 article-title: Use of sirolimus in IPEX and IPEX-like children publication-title: J Clin Immunol doi: 10.1007/s10875-008-9196-1 contributor: fullname: Yong – volume: 1246 start-page: 50 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib15 article-title: DNA repair: the link between primary immunodeficiency and cancer publication-title: Ann N Y Acad Sci doi: 10.1111/j.1749-6632.2011.06322.x contributor: fullname: de Miranda – volume: 120 start-page: 5143 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib530 article-title: Impaired ribosomal subunit association in Shwachman-Diamond syndrome publication-title: Blood doi: 10.1182/blood-2012-04-420166 contributor: fullname: Burwick – volume: 125 start-page: 591 year: 2015 ident: 10.1016/j.jaci.2015.04.049_bib474 article-title: Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations publication-title: Blood doi: 10.1182/blood-2014-09-602763 contributor: fullname: Milner – volume: 124 start-page: 1289 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib266 article-title: Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2009.10.038 contributor: fullname: Engelhardt – volume: 164 start-page: 501 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib506 article-title: Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature publication-title: Eur J Pediatr doi: 10.1007/s00431-005-1657-4 contributor: fullname: Melis – volume: 210 start-page: 433 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib158 article-title: Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome publication-title: J Exp Med doi: 10.1084/jem.20111229 contributor: fullname: Kotlarz – volume: 26 start-page: I22 issue: suppl 8 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib738 article-title: Inhibiting complement activation on cells at the step of C3 cleavage publication-title: Vaccine doi: 10.1016/j.vaccine.2008.11.001 contributor: fullname: Liszewski – volume: 28 start-page: 1263 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib84 article-title: Development of cancer in patients with primary immunodeficiencies publication-title: Anticancer Res contributor: fullname: Salavoura – volume: 204 start-page: 2047 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib318 article-title: Mutations of the Igbeta gene cause agammaglobulinemia in man publication-title: J Exp Med doi: 10.1084/jem.20070264 contributor: fullname: Ferrari – volume: 116 start-page: 5507 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib141 article-title: High-definition mapping of retroviral integration sites identifies active regulatory elements in human multipotent hematopoietic progenitors publication-title: Blood doi: 10.1182/blood-2010-05-283523 contributor: fullname: Cattoglio – volume: 2013 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib487 article-title: A multidisciplinary approach to management of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) publication-title: BMJ Case Rep doi: 10.1136/bcr-2012-008116 contributor: fullname: Gouda – volume: 10 start-page: 10 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib52 article-title: Hemolytic anemia following intravenous immunoglobulin therapy in patients treated for Kawasaki disease: a report of 4 cases publication-title: Pediatr Rheumatol Online J doi: 10.1186/1546-0096-10-10 contributor: fullname: Berard – volume: 111 start-page: 77 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib340 article-title: The EUROclass trial: defining subgroups in common variable immunodeficiency publication-title: Blood doi: 10.1182/blood-2007-06-091744 contributor: fullname: Wehr – volume: 131 start-page: 1586 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib263 article-title: Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2013.02.038 contributor: fullname: Hsu – volume: 54 start-page: 641 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib682 article-title: Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)—different faces with separate treatments: two cases and review of the literature publication-title: Turk J Pediatr contributor: fullname: Gencpinar – volume: 36 start-page: 863 year: 1999 ident: 10.1016/j.jaci.2015.04.049_bib731 article-title: Properdin deficiency: molecular basis and disease association publication-title: Mol Immunol doi: 10.1016/S0161-5890(99)00107-8 contributor: fullname: Fijen – volume: 103 start-page: 185 year: 2004 ident: 10.1016/j.jaci.2015.04.049_bib38 article-title: Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation publication-title: Blood doi: 10.1182/blood-2003-06-1964 contributor: fullname: Takada – volume: 30 start-page: 121 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib304 article-title: Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia publication-title: J Clin Immunol doi: 10.1007/s10875-009-9341-5 contributor: fullname: Lee – volume: 130 start-page: 481 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib355 article-title: LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2012.05.043 contributor: fullname: Alangari – volume: 119 start-page: 2754 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib457 article-title: A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes publication-title: Blood doi: 10.1182/blood-2011-08-374199 contributor: fullname: Bryceson – volume: 170 start-page: 52 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib757 article-title: Alternative complement pathway in the pathogenesis of disease mediated by anti-neutrophil cytoplasmic autoantibodies publication-title: Am J Pathol doi: 10.2353/ajpath.2007.060573 contributor: fullname: Xiao – volume: 82 start-page: 5 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib86 article-title: Severe combined immunodeficiency (SCID): from molecular basis to clinical management publication-title: Acta Biomed contributor: fullname: Sponzilli – volume: 3 start-page: 234 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib176 article-title: The STAT5b pathway defect and autoimmunity publication-title: Front Immunol doi: 10.3389/fimmu.2012.00234 contributor: fullname: Kanai – volume: 361 start-page: 1511 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib749 article-title: Thrombomodulin in atypical hemolytic-uremic syndrome publication-title: N Engl J Med doi: 10.1056/NEJMc091704 contributor: fullname: Edey – volume: 41 start-page: 115 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib362 article-title: Granulomatosis-associated common variable immunodeficiency disorder: a case-control study versus sarcoidosis publication-title: Eur Respir J doi: 10.1183/09031936.00189011 contributor: fullname: Bouvry – volume: 63 start-page: 830 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib649 article-title: Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation publication-title: Arthritis Rheum doi: 10.1002/art.30170 contributor: fullname: Borghini – volume: 160 start-page: 735 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib522 article-title: Neutrophil-specific granule deficiency publication-title: Br J Haematol doi: 10.1111/bjh.12207 contributor: fullname: McIlwaine – volume: 127 start-page: 1344 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib34 article-title: Gene therapy for primary immunodeficiencies: looking ahead, toward gene correction publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.02.027 contributor: fullname: Pessach – volume: 112 start-page: 219 year: 2004 ident: 10.1016/j.jaci.2015.04.049_bib82 article-title: How to flee the flu publication-title: Clin Immunol doi: 10.1016/j.clim.2004.03.013 contributor: fullname: Junker – volume: 32 start-page: 681 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib626 article-title: A novel STAT1 mutation associated with disseminated mycobacterial disease publication-title: J Clin Immunol doi: 10.1007/s10875-012-9659-2 contributor: fullname: Sampaio – volume: 370 start-page: 921 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib715 article-title: Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy publication-title: N Engl J Med doi: 10.1056/NEJMoa1307362 contributor: fullname: Navon Elkan – volume: 117 start-page: 688 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib154 article-title: First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases publication-title: Blood doi: 10.1182/blood-2010-06-292490 contributor: fullname: Markert – volume: 53 start-page: 611 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib314 article-title: Atypical case of X-linked agammaglobulinemia diagnosed at 45 years of age publication-title: Pediatr Int doi: 10.1111/j.1442-200X.2011.03409.x contributor: fullname: Fujioka – volume: 122 start-page: 1043 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib573 article-title: The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2008.10.037 contributor: fullname: Al-Muhsen – volume: 131 start-page: e1308 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib707 article-title: Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition publication-title: Pediatrics doi: 10.1542/peds.2012-2255 contributor: fullname: Melki – volume: 35 start-page: e14 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib130 article-title: Cord blood transplants for SCID: better b-cell engraftment? publication-title: J Pediatr Hematol Oncol doi: 10.1097/MPH.0b013e31824e15b8 contributor: fullname: Chan – volume: 2 start-page: 379 year: 2002 ident: 10.1016/j.jaci.2015.04.049_bib729 article-title: Navigating the maze of complement genetics: a guide for clinicians publication-title: Curr Allergy Asthma Rep doi: 10.1007/s11882-002-0070-6 contributor: fullname: Colten – volume: 19 start-page: 243 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib559 article-title: Pulmonary alveolar proteinosis publication-title: Can Respir J doi: 10.1155/2012/841530 contributor: fullname: Patel – volume: 15 start-page: 69 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib398 article-title: IgA and/or IgG subclass deficiency in children with recurrent respiratory infections and its relationship with chronic pulmonary damage publication-title: J Investig Allergol Clin Immunol contributor: fullname: Ozkan – volume: 367 start-page: 725 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib552 article-title: Adult-onset immunodeficiency in Thailand and Taiwan publication-title: N Engl J Med doi: 10.1056/NEJMoa1111160 contributor: fullname: Browne – volume: 18 start-page: 1368 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib543 article-title: Myeloablative transplantation using either cord blood or bone marrow leads to immune recovery, high long-term donor chimerism and excellent survival in chronic granulomatous disease publication-title: Biol Blood Marrow Transplant doi: 10.1016/j.bbmt.2012.02.002 contributor: fullname: Tewari – volume: 24 start-page: 490 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib576 article-title: Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency publication-title: Clin Microbiol Rev doi: 10.1128/CMR.00001-11 contributor: fullname: Picard – volume: 161 start-page: 1199 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib690 article-title: Targeted treatment of pyoderma gangrenosum in PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome with the recombinant human interleukin-1 receptor antagonist anakinra publication-title: Br J Dermatol doi: 10.1111/j.1365-2133.2009.09404.x contributor: fullname: Brenner – volume: 126 start-page: 1304 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib286 article-title: Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2010.07.034 contributor: fullname: McDonald – volume: 60 start-page: 1438 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib747 article-title: Congenital H-ficolin deficiency in premature infants with severe necrotising enterocolitis publication-title: Gut doi: 10.1136/gut.2010.226027 contributor: fullname: Schlapbach – volume: 123 start-page: 809 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib572 article-title: GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity publication-title: Blood doi: 10.1182/blood-2013-07-515528 contributor: fullname: Spinner – volume: 5 start-page: e1000396 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib233 article-title: The dynamics of T-cell receptor repertoire diversity following thymus transplantation for DiGeorge anomaly publication-title: PLoS Comput Biol doi: 10.1371/journal.pcbi.1000396 contributor: fullname: Ciupe – volume: 133 start-page: 961 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib76 article-title: Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2013.11.043 contributor: fullname: Buckley – volume: 207 start-page: 291 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib482 article-title: Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I publication-title: J Exp Med doi: 10.1084/jem.20091983 contributor: fullname: Puel – volume: 30 start-page: 209 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib5 article-title: Genetics and immunopathology of chronic granulomatous disease publication-title: Semin Immunopathol doi: 10.1007/s00281-008-0121-8 contributor: fullname: Stasia – volume: 67 start-page: 183 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib166 article-title: Regulation of MHC class II expression, a unique regulatory system identified by the study of a primary immunodeficiency disease publication-title: Tissue Antigens doi: 10.1111/j.1399-0039.2006.00557.x contributor: fullname: Krawczyk – volume: 43 start-page: 127 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib590 article-title: Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature publication-title: Nat Genet doi: 10.1038/ng.748 contributor: fullname: Briggs – volume: 161 start-page: 950 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib236 article-title: Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome publication-title: J Pediatr doi: 10.1016/j.jpeds.2012.06.018 contributor: fullname: Patel – volume: 321 start-page: 691 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib585 article-title: Pyogenic bacterial infections in humans with MyD88 deficiency publication-title: Science doi: 10.1126/science.1158298 contributor: fullname: von Bernuth – volume: 208 start-page: 1635 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib619 article-title: Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis publication-title: J Exp Med doi: 10.1084/jem.20110958 contributor: fullname: Liu – volume: 209 start-page: 463 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib317 article-title: Agammaglobulinemia and absent B lineage cells in a patient lacking the p85alpha subunit of PI3K publication-title: J Exp Med doi: 10.1084/jem.20112533 contributor: fullname: Conley – volume: 66 start-page: 28 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib427 article-title: The B-cell compartment in the peripheral blood of children with different types of primary humoral immunodeficiency publication-title: Pediatr Res doi: 10.1203/PDR.0b013e3181a7b0a2 contributor: fullname: Bukowska-Strakova – volume: 362 start-page: 1 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib464 article-title: Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency publication-title: J Immunol Methods doi: 10.1016/j.jim.2010.08.010 contributor: fullname: Marsh – volume: 129 start-page: 294 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib617 article-title: Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.12.966 contributor: fullname: Engelhardt – volume: 49 start-page: 483 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib308 article-title: Chronic skin lesions from a patient with Bruton's X-linked agammaglobulinemia publication-title: J Clin Microbiol doi: 10.1128/JCM.02020-10 contributor: fullname: Sharp – volume: 11 start-page: 512 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib458 article-title: The expanding spectrum of hemophagocytic lymphohistiocytosis publication-title: Curr Opin Allergy Clin Immunol doi: 10.1097/ACI.0b013e32834c22f5 contributor: fullname: Filipovich – volume: 117 start-page: 897 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib129 article-title: Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2006.01.003 contributor: fullname: Roifman – volume: 343 start-page: 174 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib537 article-title: Chronic granulomatous disease in an adult recognized by an invasive aspergillosis publication-title: Am J Med Sci doi: 10.1097/MAJ.0b013e31823484de contributor: fullname: Kaufmann – volume: 34 start-page: 785 year: 2002 ident: 10.1016/j.jaci.2015.04.049_bib391 article-title: Reversible panhypogammaglobulinemia associated with phenytoin treatment publication-title: Scand J Infect Dis doi: 10.1080/00365540260348662 contributor: fullname: Pereira – volume: 8 start-page: 325 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib319 article-title: Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia publication-title: Genes Immun doi: 10.1038/sj.gene.6364391 contributor: fullname: Ferrari – volume: 204 start-page: 2407 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib587 article-title: Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity publication-title: J Exp Med doi: 10.1084/jem.20070628 contributor: fullname: Ku – volume: 13 start-page: 257 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib426 article-title: Reduced CD19 expression and decreased memory B cell numbers in transient hypogammaglobulinemia of infancy publication-title: Clin Exp Med doi: 10.1007/s10238-012-0200-y contributor: fullname: Artac – volume: 83 start-page: 529 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib704 article-title: The H syndrome is caused by mutations in the nucleoside transporter hENT3 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2008.09.013 contributor: fullname: Molho-Pessach – volume: 564 start-page: 21 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib730 article-title: The mannan-binding lectin (MBL) pathway of complement activation: biochemistry, biology and clinical implications publication-title: Adv Exp Med Biol doi: 10.1007/0-387-25515-X_6 contributor: fullname: Jensenius – year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib383 article-title: Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency publication-title: Pediatr Diabetes contributor: fullname: Hogendorf – volume: 1250 start-page: 25 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib260 article-title: Hyper-IgE syndrome update publication-title: Ann N Y Acad Sci doi: 10.1111/j.1749-6632.2011.06387.x contributor: fullname: Sowerwine – volume: 10 start-page: 183 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib334 article-title: New diagnostic criteria for CVID publication-title: Expert Rev Clin Immunol doi: 10.1586/1744666X.2014.875274 contributor: fullname: Ameratunga – volume: 69 start-page: 49 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib490 article-title: Genetic disorders with immune dysregulation publication-title: Cell Mol Life Sci doi: 10.1007/s00018-011-0838-8 contributor: fullname: Gambineri – volume: 125 start-page: S262 issue: suppl year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib733 article-title: Complement disorders and hereditary angioedema publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2009.10.063 contributor: fullname: Frank – volume: 127 start-page: 1356 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib33 article-title: Gene therapy for primary adaptive immune deficiencies publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.04.030 contributor: fullname: Fischer – volume: 68 start-page: 1435 year: 2000 ident: 10.1016/j.jaci.2015.04.049_bib409 article-title: Immunogenicity and tolerance of a 7-valent pneumococcal conjugate vaccine in nonresponders to the 23-valent pneumococcal vaccine publication-title: Infect Immun doi: 10.1128/IAI.68.3.1435-1440.2000 contributor: fullname: Zielen – volume: 118 start-page: 4957 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib594 article-title: The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome publication-title: Blood doi: 10.1182/blood-2011-07-368084 contributor: fullname: McDermott – volume: 157 start-page: 623 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib609 article-title: Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood publication-title: J Pediatr doi: 10.1016/j.jpeds.2010.04.020 contributor: fullname: Abel – volume: 64 start-page: 895 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib699 article-title: Mutations in proteasome subunit beta type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity publication-title: Arthritis Rheum doi: 10.1002/art.33368 contributor: fullname: Liu – volume: 39 start-page: 643 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib544 article-title: Genetic correction of X-linked chronic granulomatous disease with novel foamy virus vectors publication-title: Exp Hematol doi: 10.1016/j.exphem.2011.03.003 contributor: fullname: Chatziandreou – volume: 87 start-page: 866 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib696 article-title: PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2010.10.031 contributor: fullname: Agarwal – volume: 48 start-page: 124 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib456 article-title: HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis publication-title: Pediatr Blood Cancer doi: 10.1002/pbc.21039 contributor: fullname: Henter – volume: 98 start-page: 389 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib471 article-title: Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults publication-title: Haematologica doi: 10.3324/haematol.2012.067488 contributor: fullname: Lambotte – volume: 53 start-page: 505 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib23 article-title: Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens publication-title: Clin Chem doi: 10.1373/clinchem.2006.080051 contributor: fullname: Jeurissen – volume: 125 start-page: S195 issue: suppl year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib20 article-title: Secondary immunodeficiencies, including HIV infection publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2009.08.040 contributor: fullname: Chinen – volume: 109 start-page: 308 year: 2003 ident: 10.1016/j.jaci.2015.04.049_bib35 article-title: Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation publication-title: Clin Immunol doi: 10.1016/j.clim.2003.08.002 contributor: fullname: Anderson-Cohen – volume: 14 start-page: 291 year: 1993 ident: 10.1016/j.jaci.2015.04.049_bib394 article-title: IgG subclasses: importance in pediatric practice publication-title: Pediatr Rev doi: 10.1542/pir.14.8.291 contributor: fullname: Shackelford – volume: 38 start-page: 516 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib676 article-title: Anti-interleukin 1 treatment for patients with familial Mediterranean fever resistant to colchicine publication-title: J Rheumatol doi: 10.3899/jrheum.100718 contributor: fullname: Ozen – volume: 2013 start-page: 939847 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib651 article-title: Biological treatments: new weapons in the management of monogenic autoinflammatory disorders publication-title: Mediators Inflamm doi: 10.1155/2013/939847 contributor: fullname: Vitale – start-page: CD004401 issue: 4 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib58 article-title: Antibiotics for the prevention of acute and chronic suppurative otitis media in children publication-title: Cochrane Database Syst Rev contributor: fullname: Leach – volume: 97 start-page: E830 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib178 article-title: A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease publication-title: J Clin Endocrinol Metab doi: 10.1210/jc.2011-2554 contributor: fullname: Scaglia – volume: 18 start-page: 42 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib191 article-title: Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome publication-title: Curr Opin Hematol doi: 10.1097/MOH.0b013e32834114bc contributor: fullname: Albert – volume: 75 start-page: 4952 year: 2001 ident: 10.1016/j.jaci.2015.04.049_bib598 article-title: Epidermodysplasia verruciformis defines a subset of cutaneous human papillomaviruses publication-title: J Virol doi: 10.1128/JVI.75.10.4952-4953.2001 contributor: fullname: Orth – volume: 126 start-page: 392 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib288 article-title: Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2010.05.005 contributor: fullname: Goussetis – volume: 45 start-page: 411 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib549 article-title: Impact of molecular diagnosis on treating Mendelian susceptibility to mycobacterial diseases publication-title: J Microbiol Immunol Infect doi: 10.1016/j.jmii.2012.08.017 contributor: fullname: Wang – volume: 56 start-page: 150 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib170 article-title: Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency publication-title: Immunol Res doi: 10.1007/s12026-012-8380-9 contributor: fullname: Somech – volume: 124 start-page: 1311 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib144 article-title: ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2009.10.007 contributor: fullname: McCarl – volume: 68 start-page: 392 year: 1987 ident: 10.1016/j.jaci.2015.04.049_bib400 article-title: Serum IgG subclass deficiency in ataxia-telangiectasia publication-title: Clin Exp Immunol contributor: fullname: Aucouturier – volume: 115 start-page: 1519 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib640 article-title: Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia publication-title: Blood doi: 10.1182/blood-2009-03-208629 contributor: fullname: Vinh – volume: 650 start-page: 46 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib104 article-title: V(D)J recombination deficiencies publication-title: Adv Exp Med Biol doi: 10.1007/978-1-4419-0296-2_4 contributor: fullname: de Villartay – volume: 16 start-page: E99 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib439 article-title: Unrelated cord blood transplantation can restore hematologic and immunologic functions in patients with Chediak-Higashi syndrome publication-title: Pediatr Transplant doi: 10.1111/j.1399-3046.2010.01461.x contributor: fullname: Rihani – volume: 62 start-page: 489 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib698 article-title: Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome publication-title: J Am Acad Dermatol doi: 10.1016/j.jaad.2009.04.046 contributor: fullname: Torrelo – volume: 89 start-page: 403 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib584 article-title: Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency publication-title: Medicine (Baltimore) doi: 10.1097/MD.0b013e3181fd8ec3 contributor: fullname: Picard – volume: 360 start-page: 1971 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib145 article-title: STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity publication-title: N Engl J Med doi: 10.1056/NEJMoa0900082 contributor: fullname: Picard – volume: 119 start-page: 1350 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib161 article-title: Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation publication-title: J Clin Invest doi: 10.1172/JCI37901 contributor: fullname: Huck – volume: 218 start-page: 762 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib551 article-title: Patients with inhibitory and neutralizing auto-antibodies to interferon-gamma resemble the sporadic adult-onset phenotype of Mendelian susceptibility to mycobacterial disease (MSMD) lacking Bacille Calmette-Guerin (BCG)-induced diseases publication-title: Immunobiology doi: 10.1016/j.imbio.2012.08.281 contributor: fullname: Lee – volume: 45 start-page: 320 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib366 article-title: Outcome of screening endoscopy in common variable immunodeficiency disorder and X-linked agammaglobulinemia publication-title: Endoscopy doi: 10.1055/s-0032-1326078 contributor: fullname: Maarschalk-Ellerbroek – volume: 18 start-page: 1550 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib501 article-title: Interactions among HCLS1, HAX1 and LEF-1 proteins are essential for G-CSF-triggered granulopoiesis publication-title: Nat Med doi: 10.1038/nm.2958 contributor: fullname: Skokowa – volume: 299 start-page: 2076 year: 2003 ident: 10.1016/j.jaci.2015.04.049_bib583 article-title: Pyogenic bacterial infections in humans with IRAK-4 deficiency publication-title: Science doi: 10.1126/science.1081902 contributor: fullname: Picard – volume: 120 start-page: 982 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib17 article-title: Images in immunodeficiency publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2007.08.042 contributor: fullname: Shearer – start-page: 1 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib10 article-title: Approach to the Evaluation of the immunodeficient patient contributor: fullname: Chinen – volume: 361 start-page: 345 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib748 article-title: Thrombomodulin mutations in atypical hemolytic-uremic syndrome publication-title: N Engl J Med doi: 10.1056/NEJMoa0810739 contributor: fullname: Delvaeye – volume: 22 start-page: 396 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib41 article-title: Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections publication-title: Clin Microbiol Rev doi: 10.1128/CMR.00001-09 contributor: fullname: Fried – volume: 119 start-page: 513 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib213 article-title: Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder publication-title: Acta Neuropathol doi: 10.1007/s00401-010-0639-4 contributor: fullname: Oba – volume: 97 start-page: 590 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib423 article-title: Impaired specific antibody response and increased B-cell population in transient hypogammaglobulinemia of infancy publication-title: Ann Allergy Asthma Immunol doi: 10.1016/S1081-1206(10)61085-X contributor: fullname: Dorsey – volume: 3 start-page: 189 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib369 article-title: Autoimmune cytopenias in common variable immunodeficiency publication-title: Front Immunol doi: 10.3389/fimmu.2012.00189 contributor: fullname: Podjasek – volume: 12 start-page: 52 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib720 article-title: Periodic fevers with aphthous stomatitis, pharyngitis, and adenitis (PFAPA) publication-title: Autoimmun Rev doi: 10.1016/j.autrev.2012.07.021 contributor: fullname: Vigo – volume: 112 start-page: 106 year: 2004 ident: 10.1016/j.jaci.2015.04.049_bib79 article-title: Live viral vaccines in patients with partial DiGeorge syndrome: clinical experience and cellular immunity publication-title: Clin Immunol doi: 10.1016/j.clim.2004.02.008 contributor: fullname: Moylett – volume: 129 start-page: 628 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib47 article-title: The role of anti-IgA antibodies in causing adverse reactions to gamma globulin infusion in immunodeficient patients: a comprehensive review of the literature publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.06.047 contributor: fullname: Rachid – volume: 5 start-page: 491 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib113 article-title: CD3 deficiencies publication-title: Curr Opin Allergy Clin Immunol doi: 10.1097/01.all.0000191886.12645.79 contributor: fullname: Fischer – volume: 41 start-page: 101 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib93 article-title: Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2 publication-title: Nat Genet doi: 10.1038/ng.265 contributor: fullname: Pannicke – volume: 86 start-page: 12826 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib206 article-title: Ataxia telangiectasia mutated kinase controls chronic gammaherpesvirus infection publication-title: J Virol doi: 10.1128/JVI.00917-12 contributor: fullname: Kulinski – volume: 135 start-page: 236 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib234 article-title: Thymus transplantation publication-title: Clin Immunol doi: 10.1016/j.clim.2010.02.007 contributor: fullname: Markert – volume: 116 start-page: 505 year: 1999 ident: 10.1016/j.jaci.2015.04.049_bib392 article-title: The significance of IgG subclasses and mannan-binding lectin (MBL) for susceptibility to infection in apparently healthy adults with IgA deficiency publication-title: Clin Exp Immunol doi: 10.1046/j.1365-2249.1999.00898.x contributor: fullname: Aittoniemi – volume: 58 start-page: A4282 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib62 article-title: Immunodeficiencies in children with chronic post tympanic otorrhoea publication-title: Dan Med Bull contributor: fullname: Ovesen – volume: 132 start-page: 215 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib336 article-title: Reduced frequency of CD4(+)CD25(HIGH)FOXP3(+) cells and diminished FOXP3 expression in patients with Common Variable Immunodeficiency: a link to autoimmunity? publication-title: Clin Immunol doi: 10.1016/j.clim.2009.03.519 contributor: fullname: Genre – volume: 53 start-page: 885 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib529 article-title: Complete homozygous deletion of CTSC in an Iranian family with Papillon-Lefevre syndrome publication-title: Int J Dermatol doi: 10.1111/j.1365-4632.2012.05769.x contributor: fullname: Schackert – volume: 12 start-page: 580 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib632 article-title: Experimental therapy of African trypanosomiasis with a nanobody-conjugated human trypanolytic factor publication-title: Nat Med doi: 10.1038/nm1395 contributor: fullname: Baral – volume: 31 start-page: 43 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib85 article-title: Severe combined immunodeficiences: new and old scenarios publication-title: Int Rev Immunol doi: 10.3109/08830185.2011.644607 contributor: fullname: Aloj – volume: 122 start-page: 3769 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib216 article-title: Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity publication-title: J Clin Invest doi: 10.1172/JCI64837 contributor: fullname: Grier – volume: 26 start-page: 7 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib428 article-title: Infants presenting with recurrent infections and low immunoglobulins: characteristics and analysis of normalization publication-title: J Clin Immunol doi: 10.1007/s10875-006-8144-1 contributor: fullname: Whelan – volume: 33 start-page: S87 issue: suppl 2 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib54 article-title: Overview of routes of IgG administration publication-title: J Clin Immunol doi: 10.1007/s10875-012-9845-2 contributor: fullname: Torgerson – volume: 33 start-page: 847 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib415 article-title: Correlation of pneumococcal antibody concentration and avidity with patient clinical and immunologic characteristics publication-title: J Clin Immunol doi: 10.1007/s10875-013-9870-9 contributor: fullname: Fried – volume: 150 start-page: 196 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib514 article-title: Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy publication-title: Br J Haematol contributor: fullname: Rosenberg – volume: 29 start-page: 769 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib430 article-title: Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations publication-title: J Clin Immunol doi: 10.1007/s10875-009-9315-7 contributor: fullname: Aghamohammadi – volume: 86 start-page: 447 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib496 article-title: Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2010.01.028 contributor: fullname: Lohr – volume: 363 start-page: 1918 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib69 article-title: Stem-cell gene therapy for the Wiskott-Aldrich syndrome publication-title: N Engl J Med doi: 10.1056/NEJMoa1003548 contributor: fullname: Boztug – volume: 6 start-page: 154 year: 2003 ident: 10.1016/j.jaci.2015.04.049_bib735 article-title: Role of complement in the development of autoimmunity publication-title: Curr Dir Autoimmun doi: 10.1159/000066860 contributor: fullname: Boackle – volume: 133 start-page: 375 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib249 article-title: Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia publication-title: Clin Immunol doi: 10.1016/j.clim.2009.08.017 contributor: fullname: Lev – volume: 64 start-page: 908 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib677 article-title: Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study publication-title: Arthritis Rheum doi: 10.1002/art.33416 contributor: fullname: Bulua – volume: 22 start-page: 262 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib693 article-title: Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome publication-title: Pediatr Dermatol doi: 10.1111/j.1525-1470.2005.22320.x contributor: fullname: Stichweh – volume: 41 start-page: 106 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib92 article-title: Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness publication-title: Nat Genet doi: 10.1038/ng.278 contributor: fullname: Lagresle-Peyrou – volume: 135 start-page: 247 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib139 article-title: Update on gene therapy for immunodeficiencies publication-title: Clin Immunol doi: 10.1016/j.clim.2009.12.003 contributor: fullname: Kohn – volume: 59 start-page: 435 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib315 article-title: Recurrent pyogenic meningitis in a 17-year-old: a delayed presentation of X-linked agammaglobulinemia with growth hormone deficiency publication-title: Neurol India doi: 10.4103/0028-3886.82768 contributor: fullname: Sabnis – volume: 71 start-page: 505 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib343 article-title: Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency publication-title: Hum Immunol doi: 10.1016/j.humimm.2010.02.002 contributor: fullname: Dong – volume: 118 start-page: 3132 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib67 article-title: Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1 publication-title: J Clin Invest doi: 10.1172/JCI35700 contributor: fullname: Hacein-Bey-Abina – volume: 65 start-page: 510 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib361 article-title: Allergic asthma in patients with common variable immunodeficiency publication-title: Allergy doi: 10.1111/j.1398-9995.2009.02211.x contributor: fullname: Agondi – volume: 100 start-page: 989 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib636 article-title: Treatment and follow-up of the first case of human trypanosomiasis caused by Trypanosoma evansi in India publication-title: Trans R Soc Trop Med Hyg doi: 10.1016/j.trstmh.2005.11.003 contributor: fullname: Joshi – volume: 10 start-page: 617 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib756 article-title: Role of the complement system in rheumatoid arthritis and psoriatic arthritis: relationship with anti-TNF inhibitors publication-title: Autoimmun Rev doi: 10.1016/j.autrev.2011.04.012 contributor: fullname: Ballanti – volume: 37 start-page: 615 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib742 article-title: Complement factor I deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis publication-title: Scand J Infect Dis doi: 10.1080/00365540510034536 contributor: fullname: Genel – volume: 97 start-page: 376 year: 2001 ident: 10.1016/j.jaci.2015.04.049_bib505 article-title: Recombinant human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b publication-title: Blood doi: 10.1182/blood.V97.2.376 contributor: fullname: Calderwood – volume: 121 start-page: e998 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib495 article-title: Immune reconstitution and recovery of FOXP3 (forkhead box P3)-expressing T cells after transplantation for IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome publication-title: Pediatrics doi: 10.1542/peds.2007-1863 contributor: fullname: Zhan – volume: 78 start-page: 964 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib727 article-title: Vitamin D levels and effects of vitamin D replacement in children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome publication-title: Int J Pediatr Otorhinolaryngol doi: 10.1016/j.ijporl.2014.03.026 contributor: fullname: Stagi – volume: 80 start-page: 397 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib741 article-title: Factor H-related protein 1 neutralizes anti-factor H autoantibodies in autoimmune hemolytic uremic syndrome publication-title: Kidney Int doi: 10.1038/ki.2011.152 contributor: fullname: Strobel – volume: 361 start-page: 2046 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib268 article-title: Combined immunodeficiency associated with DOCK8 mutations publication-title: N Engl J Med doi: 10.1056/NEJMoa0905506 contributor: fullname: Zhang – volume: 75 start-page: 476 year: 2004 ident: 10.1016/j.jaci.2015.04.049_bib687 article-title: Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome publication-title: Clin Pharmacol Ther doi: 10.1016/j.clpt.2004.01.012 contributor: fullname: Simon – volume: 125 start-page: 639 year: 2015 ident: 10.1016/j.jaci.2015.04.049_bib473 article-title: Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3 publication-title: Blood doi: 10.1182/blood-2014-04-570101 contributor: fullname: Haapaniemi – volume: 101 start-page: 101 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib31 article-title: Interpretation of lymphocyte proliferation tests publication-title: Ann Allergy Asthma Immunol doi: 10.1016/S1081-1206(10)60842-3 contributor: fullname: Bonilla – volume: 45 start-page: 93 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib219 article-title: Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) publication-title: J Med Genet doi: 10.1136/jmg.2007.053397 contributor: fullname: Hagleitner – volume: 111 start-page: 98 year: 2004 ident: 10.1016/j.jaci.2015.04.049_bib311 article-title: Search for poliovirus long-term excretors among patients affected by agammaglobulinemia publication-title: Clin Immunol doi: 10.1016/j.clim.2003.11.011 contributor: fullname: Fiore – volume: 124 start-page: 1245 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib711 article-title: Familial atypical cold urticaria: description of a new hereditary disease publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2009.09.035 contributor: fullname: Gandhi – volume: 135 start-page: 255 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib44 article-title: Use of intravenous immunoglobulin and adjunctive therapies in the treatment of primary immunodeficiencies: a working group report of and study by the Primary Immunodeficiency Committee of the American Academy of Allergy Asthma and Immunology publication-title: Clin Immunol doi: 10.1016/j.clim.2009.10.003 contributor: fullname: Yong – volume: 134 start-page: 97 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib363 article-title: Granulomatous-lymphocytic interstitial lung disease (GLILD) in common variable immunodeficiency (CVID) publication-title: Clin Immunol doi: 10.1016/j.clim.2009.10.002 contributor: fullname: Park – volume: 99 start-page: 1544 year: 2002 ident: 10.1016/j.jaci.2015.04.049_bib337 article-title: Severe deficiency of switched memory B cells (CD27(+)IgM(−)IgD(−)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease publication-title: Blood doi: 10.1182/blood.V99.5.1544 contributor: fullname: Warnatz – volume: 16 start-page: 398 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib285 article-title: Successful bone marrow transplantation for DOCK8 deficient hyper IgE syndrome publication-title: Pediatr Transplant doi: 10.1111/j.1399-3046.2011.01641.x contributor: fullname: Metin – volume: 31 start-page: 845 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib417 article-title: Low opsonic activity to the infecting serotype in pediatric patients with invasive pneumococcal disease publication-title: Vaccine doi: 10.1016/j.vaccine.2012.11.010 contributor: fullname: Oishi – volume: 12 start-page: 57 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib89 article-title: Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency publication-title: Curr Gene Ther doi: 10.2174/156652312799789253 contributor: fullname: Montiel-Equihua – volume: 91 start-page: e1 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib218 article-title: Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey publication-title: Medicine (Baltimore) doi: 10.1097/MD.0b013e31825f95b9 contributor: fullname: Chandesris – volume: 135 start-page: 283 year: 2015 ident: 10.1016/j.jaci.2015.04.049_bib716 article-title: Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2014.10.010 contributor: fullname: Van Eyck – volume: 31 start-page: 332 year: 2003 ident: 10.1016/j.jaci.2015.04.049_bib36 article-title: Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation publication-title: Blood Cells Mol Dis doi: 10.1016/S1079-9796(03)00168-2 contributor: fullname: Andreu – volume: 30 start-page: 886 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib262 article-title: Diffuse large B cell lymphoma in hyper-IgE syndrome due to STAT3 mutation publication-title: J Clin Immunol doi: 10.1007/s10875-010-9452-z contributor: fullname: Kumanovics – volume: 124 start-page: 1152 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib42 article-title: Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2009.10.022 contributor: fullname: Griffith – volume: 208 start-page: 2083 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib610 article-title: Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity publication-title: J Exp Med doi: 10.1084/jem.20101568 contributor: fullname: Guo – volume: 74 start-page: 1203 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib721 article-title: PFAPA syndrome in children: a meta-analysis on surgical versus medical treatment publication-title: Int J Pediatr Otorhinolaryngol doi: 10.1016/j.ijporl.2010.08.014 contributor: fullname: Peridis – volume: 164 start-page: 9 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib179 article-title: Infections and immunodeficiency in Down syndrome publication-title: Clin Exp Immunol doi: 10.1111/j.1365-2249.2011.04335.x contributor: fullname: Ram – volume: 43 start-page: 280 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib239 article-title: Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins publication-title: J Med Genet doi: 10.1136/jmg.2005.032946 contributor: fullname: Johnson – volume: 17 start-page: 1245 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib518 article-title: Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type 1: a single center experience publication-title: Biol Blood Marrow Transplant doi: 10.1016/j.bbmt.2010.12.714 contributor: fullname: Al-Dhekri – volume: 55 start-page: 180 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib521 article-title: Leukocyte adhesion deficiency-III in an African-American patient publication-title: Pediatr Blood Cancer doi: 10.1002/pbc.22386 contributor: fullname: Sabnis – volume: 49 start-page: 761 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib466 article-title: Successful treatment of acute Epstein-Barr virus infection associated with X-linked lymphoproliferative disorder with rituximab publication-title: Pediatr Blood Cancer doi: 10.1002/pbc.21081 contributor: fullname: Bond – volume: 22 start-page: 261 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib194 article-title: Immunodeficiency-associated lymphomas publication-title: Blood Rev doi: 10.1016/j.blre.2008.03.009 contributor: fullname: Tran – volume: 134 start-page: 198 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib410 article-title: Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens by multiplexed bead assay publication-title: Clin Immunol doi: 10.1016/j.clim.2009.10.006 contributor: fullname: Borgers – volume: 118 start-page: 3811 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib190 article-title: Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand publication-title: Blood doi: 10.1182/blood-2011-04-351254 contributor: fullname: Jain – volume: 46 start-page: 1547 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib378 article-title: Infections in 252 patients with common variable immunodeficiency publication-title: Clin Infect Dis doi: 10.1086/587669 contributor: fullname: Oksenhendler – volume: 145 start-page: 806 year: 2004 ident: 10.1016/j.jaci.2015.04.049_bib557 article-title: Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey publication-title: J Pediatr doi: 10.1016/j.jpeds.2004.08.021 contributor: fullname: Roesler – volume: 21 start-page: 105 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib273 article-title: Defects in Jak-STAT-mediated cytokine signals cause hyper-IgE syndrome: lessons from a primary immunodeficiency publication-title: Int Immunol doi: 10.1093/intimm/dxn134 contributor: fullname: Minegishi – volume: 3 start-page: 210 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib370 article-title: Pathogenesis of autoimmunity in common variable immunodeficiency publication-title: Front Immunol doi: 10.3389/fimmu.2012.00210 contributor: fullname: Warnatz – volume: 137 start-page: 374 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib421 article-title: Outcome of hypogammaglobulinemia in children: immunoglobulin levels as predictors publication-title: Clin Immunol doi: 10.1016/j.clim.2010.08.010 contributor: fullname: Ozen – volume: 147 start-page: 87 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib382 article-title: Progression of selective IgA deficiency to common variable immunodeficiency publication-title: Int Arch Allergy Immunol doi: 10.1159/000135694 contributor: fullname: Aghamohammadi – volume: 49 start-page: 291 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib489 article-title: The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome publication-title: J Med Genet doi: 10.1136/jmedgenet-2012-100759 contributor: fullname: d'Hennezel – volume: 4 start-page: 379 year: 2002 ident: 10.1016/j.jaci.2015.04.049_bib199 article-title: The Wiskott-Aldrich syndrome publication-title: Isr Med Assoc J contributor: fullname: Ochs – volume: 55 start-page: 1438 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib450 article-title: Novel mutation causing Hermansky-Pudlak syndrome type 2 publication-title: Pediatr Blood Cancer doi: 10.1002/pbc.22793 contributor: fullname: Chiang – volume: 39 start-page: 701 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib646 article-title: Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation publication-title: Rheum Dis Clin North Am doi: 10.1016/j.rdc.2013.08.001 contributor: fullname: Sanchez – volume: 87 start-page: 301 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib684 article-title: Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome publication-title: Medicine (Baltimore) doi: 10.1097/MD.0b013e318190cfb7 contributor: fullname: van der Hilst – volume: 27 start-page: 117 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib531 article-title: Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update publication-title: Hematol Oncol Clin North Am doi: 10.1016/j.hoc.2012.10.003 contributor: fullname: Myers – year: 2015 ident: 10.1016/j.jaci.2015.04.049_bib329 article-title: ICON: international consensus document for common variable immunodeficiency (CVID) publication-title: J Allergy Clin Immunol Pract contributor: fullname: Bonilla – volume: 104 start-page: 16910 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib224 article-title: RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.0708408104 contributor: fullname: Stewart – volume: 59 start-page: 244 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib13 article-title: Invasive pneumococcal disease in children can reveal a primary immunodeficiency publication-title: Clin Infect Dis doi: 10.1093/cid/ciu274 contributor: fullname: Gaschignard – volume: 119 start-page: 3185 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib453 article-title: Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome publication-title: Blood doi: 10.1182/blood-2012-01-404350 contributor: fullname: Badolato – volume: 32 start-page: 635 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib763 article-title: Anticytokine autoantibody-associated immunodeficiency publication-title: Annu Rev Immunol doi: 10.1146/annurev-immunol-032713-120222 contributor: fullname: Browne – volume: 46 start-page: 2384 year: 2002 ident: 10.1016/j.jaci.2015.04.049_bib764 article-title: Autoantibodies against granulocyte colony-stimulating factor in Felty's syndrome and neutropenic systemic lupus erythematosus publication-title: Arthritis Rheum doi: 10.1002/art.10497 contributor: fullname: Hellmich – volume: 114 start-page: 105 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib107 article-title: Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome publication-title: Blood doi: 10.1182/blood-2009-03-211029 contributor: fullname: Poliani – volume: 26 start-page: 963 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib159 article-title: Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases publication-title: Leukemia doi: 10.1038/leu.2011.371 contributor: fullname: Linka – volume: 11 start-page: 45 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib75 article-title: Approaches to minimize infection risk in blood banking and transfusion practice publication-title: Infect Disord Drug Targets doi: 10.2174/187152611794407746 contributor: fullname: Lindholm – volume: 23 start-page: 385 year: 2003 ident: 10.1016/j.jaci.2015.04.049_bib338 article-title: Common variable immunodeficiency patient classification based on impaired B cell memory differentiation correlates with clinical aspects publication-title: J Clin Immunol doi: 10.1023/A:1025373601374 contributor: fullname: Piqueras – volume: 150 start-page: 707 year: 1984 ident: 10.1016/j.jaci.2015.04.049_bib766 article-title: Characteristics of autoantibodies to human interferon in a patient with varicella-zoster disease publication-title: J Infect Dis doi: 10.1093/infdis/150.5.707 contributor: fullname: Pozzetto – volume: 74 start-page: 502 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib341 article-title: Age-matched reference values for B-lymphocyte subpopulations and CVID classifications in children publication-title: Scand J Immunol doi: 10.1111/j.1365-3083.2011.02609.x contributor: fullname: Schatorje – volume: 9 start-page: 43 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib762 article-title: Therapeutic potential of complement modulation publication-title: Nat Rev Drug Discov doi: 10.1038/nrd3011 contributor: fullname: Wagner – volume: 127 start-page: 1319 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib533 article-title: Chronic granulomatous disease: overview and hematopoietic stem cell transplantation publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.03.028 contributor: fullname: Kang – volume: 133 start-page: 1410 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib275 article-title: Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2014.02.025 contributor: fullname: Sassi – volume: 286 start-page: 23022 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib294 article-title: TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase publication-title: J Biol Chem doi: 10.1074/jbc.M111.225870 contributor: fullname: Yang – volume: 7 start-page: e39995 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib603 article-title: EVER proteins, key elements of the natural anti-human papillomavirus barrier, are regulated upon T-cell activation publication-title: PLoS One doi: 10.1371/journal.pone.0039995 contributor: fullname: Lazarczyk – volume: 170 start-page: 202 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib335 article-title: T cell phenotypes in patients with common variable immunodeficiency disorders: associations with clinical phenotypes in comparison with other groups with recurrent infections publication-title: Clin Exp Immunol doi: 10.1111/j.1365-2249.2012.04643.x contributor: fullname: Bateman – volume: 11 start-page: 519 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib689 article-title: Clinical, molecular, and genetic characteristics of PAPA syndrome: a review publication-title: Curr Genomics doi: 10.2174/138920210793175921 contributor: fullname: Smith – volume: 111 start-page: 93 year: 2004 ident: 10.1016/j.jaci.2015.04.049_bib387 article-title: IgA deficiency: clinical correlates and responses to pneumococcal vaccine publication-title: Clin Immunol doi: 10.1016/j.clim.2003.12.005 contributor: fullname: Edwards – volume: 14 start-page: 8 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib215 article-title: Progeroid syndromes and UV-induced oxidative DNA damage publication-title: J Investig Dermatol Symp Proc doi: 10.1038/jidsymp.2009.6 contributor: fullname: Kamenisch – volume: 12 start-page: 396 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib247 article-title: Consequences of a mutation in the UNC119 gene for T cell function in idiopathic CD4 lymphopenia publication-title: Curr Allergy Asthma Rep doi: 10.1007/s11882-012-0281-4 contributor: fullname: Gorska – volume: 104 start-page: 383 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib73 article-title: A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID) publication-title: Mol Genet Metab doi: 10.1016/j.ymgme.2011.07.007 contributor: fullname: Chan – volume: 361 start-page: 1760 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib622 article-title: Human dectin-1 deficiency and mucocutaneous fungal infections publication-title: N Engl J Med doi: 10.1056/NEJMoa0901053 contributor: fullname: Ferwerda – volume: 116 start-page: 27 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib256 article-title: Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation publication-title: Blood doi: 10.1182/blood-2010-01-259168 contributor: fullname: Bordon – volume: 19 start-page: 28 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib545 article-title: Gene therapy of chronic granulomatous disease: the engraftment dilemma publication-title: Mol Ther doi: 10.1038/mt.2010.232 contributor: fullname: Grez – volume: 57 start-page: 677 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib437 article-title: Rituximab and cyclosporine therapy for accelerated phase Chediak-Higashi syndrome publication-title: Pediatr Blood Cancer doi: 10.1002/pbc.23231 contributor: fullname: Ogimi – volume: 7 start-page: S30 year: 1988 ident: 10.1016/j.jaci.2015.04.049_bib327 article-title: Intraventricular gamma-globulin for the management of enterovirus encephalitis publication-title: Pediatr Infect Dis J doi: 10.1097/00006454-198805001-00007 contributor: fullname: Dwyer – volume: 3 start-page: 209 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib192 article-title: Autoimmunity in Wiskott-Aldrich syndrome: an unsolved enigma publication-title: Front Immunol doi: 10.3389/fimmu.2012.00209 contributor: fullname: Catucci – volume: 362 start-page: 367 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib623 article-title: Dectin-1 deficiency and mucocutaneous fungal infections publication-title: N Engl J Med doi: 10.1056/NEJMc0911468 contributor: fullname: Marodi – volume: 55 start-page: 1 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib81 article-title: Advisory Committee on Immunization Practices, Centers for Disease Control and Prevention (CDC). General recommendations on immunization: recommendations of the Advisory Committee on Immunization Practices (ACIP) publication-title: MMWR Recomm Rep contributor: fullname: Kroger – volume: 29 start-page: 501 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib324 article-title: The quality of life of children and adolescents with X-linked agammaglobulinemia publication-title: J Clin Immunol doi: 10.1007/s10875-008-9270-8 contributor: fullname: Soresina – volume: 149 start-page: 410 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib60 article-title: Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: a systematic review publication-title: Clin Exp Immunol doi: 10.1111/j.1365-2249.2007.03432.x contributor: fullname: Wood – volume: 26 start-page: 176 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib449 article-title: Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis publication-title: Pigment Cell Melanoma Res doi: 10.1111/pcmr.12051 contributor: fullname: Wei – volume: 38 start-page: 1361 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib569 article-title: An open-label trial of rituximab therapy in pulmonary alveolar proteinosis publication-title: Eur Respir J doi: 10.1183/09031936.00197710 contributor: fullname: Kavuru – volume: 366 start-page: 330 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib712 article-title: Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions publication-title: N Engl J Med doi: 10.1056/NEJMoa1102140 contributor: fullname: Ombrello – volume: 128 start-page: 139 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib254 article-title: Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.03.042 contributor: fullname: de la Fuente – volume: 63 start-page: 233 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib454 article-title: Familial and acquired hemophagocytic lymphohistiocytosis publication-title: Annu Rev Med doi: 10.1146/annurev-med-041610-134208 contributor: fullname: Janka – volume: 36 start-page: 1677 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib685 article-title: A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever publication-title: J Rheumatol doi: 10.3899/jrheum.081313 contributor: fullname: Steichen – volume: 12 start-page: 2546 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib740 article-title: Antibody mediated rejection associated with complement factor h-related protein 3/1 deficiency successfully treated with eculizumab publication-title: Am J Transplant doi: 10.1111/j.1600-6143.2012.04124.x contributor: fullname: Noone – volume: 182 start-page: 1292 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib562 article-title: Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy publication-title: Am J Respir Crit Care Med doi: 10.1164/rccm.201002-0271OC contributor: fullname: Suzuki – volume: 140 start-page: 255 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib542 article-title: Modern management of chronic granulomatous disease publication-title: Br J Haematol doi: 10.1111/j.1365-2141.2007.06880.x contributor: fullname: Seger – volume: 143 start-page: 218 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib163 article-title: Comments on type I bare lymphocyte syndrome publication-title: Immunol Lett doi: 10.1016/j.imlet.2012.01.007 contributor: fullname: Zimmer – volume: 9 start-page: 76 issue: suppl 1 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib198 article-title: Advances in our understanding of the molecular basis of disorders of platelet function publication-title: J Thromb Haemost doi: 10.1111/j.1538-7836.2011.04274.x contributor: fullname: Nurden – volume: 10 start-page: 135 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib668 article-title: A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin publication-title: Nat Rev Rheumatol doi: 10.1038/nrrheum.2013.174 contributor: fullname: Ozen – volume: 124 start-page: 287 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib96 article-title: Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly publication-title: Cell doi: 10.1016/j.cell.2005.12.030 contributor: fullname: Buck – volume: 128 start-page: 228 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib48 article-title: Association of anti-IgA antibodies with adverse reactions to gamma-globulin infusion publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.01.061 contributor: fullname: Rachid – volume: 209 start-page: 1567 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib611 article-title: Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood publication-title: J Exp Med doi: 10.1084/jem.20111316 contributor: fullname: Herman – volume: 4 start-page: 477 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib633 article-title: The trypanolytic factor of human serum publication-title: Nat Rev Microbiol doi: 10.1038/nrmicro1428 contributor: fullname: Pays – volume: 63 start-page: 2142 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib657 article-title: Role of interleukin-1beta in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy publication-title: Arthritis Rheum doi: 10.1002/art.30378 contributor: fullname: Jeru – volume: 94 start-page: S1 issue: suppl year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib2 article-title: Practice parameter for the diagnosis and management of primary immunodeficiency publication-title: Ann Allergy Asthma Immunol doi: 10.1016/S1081-1206(10)61142-8 contributor: fullname: Bonilla – volume: 665 start-page: 195 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib155 article-title: Human clinical phenotype associated with FOXN1 mutations publication-title: Adv Exp Med Biol doi: 10.1007/978-1-4419-1599-3_15 contributor: fullname: Pignata – volume: 20 start-page: 1410 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib152 article-title: Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations publication-title: Nat Med doi: 10.1038/nm.3746 contributor: fullname: Schubert – volume: 33 start-page: 400 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib612 article-title: Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis publication-title: Immunity doi: 10.1016/j.immuni.2010.08.014 contributor: fullname: Perez de Diego – volume: 133 start-page: 1400 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib276 article-title: Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2014.02.013 contributor: fullname: Zhang – volume: 156 start-page: 462 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib388 article-title: Analysis of switched memory B cells in patients with IgA deficiency publication-title: Int Arch Allergy Immunol doi: 10.1159/000323903 contributor: fullname: Aghamohammadi – volume: 48 start-page: 6 year: 2000 ident: 10.1016/j.jaci.2015.04.049_bib111 article-title: Human IL-2 receptor alpha chain deficiency publication-title: Pediatr Res doi: 10.1203/00006450-200007000-00004 contributor: fullname: Roifman – volume: 77 start-page: 362 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib728 article-title: Vitamin D linked to PFAPA syndrome publication-title: Int J Pediatr Otorhinolaryngol doi: 10.1016/j.ijporl.2012.11.027 contributor: fullname: Mahamid – volume: 16 start-page: 423 year: 2001 ident: 10.1016/j.jaci.2015.04.049_bib759 article-title: Diffuse crescentic glomerulonephritis in bacterial endocarditis publication-title: Pediatr Nephrol doi: 10.1007/s004670000550 contributor: fullname: Kannan – volume: 34 start-page: 553 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib568 article-title: Long-term inhaled granulocyte macrophage-colony-stimulating factor in autoimmune pulmonary alveolar proteinosis: effectiveness, safety, and lowest effective dose publication-title: Clin Drug Investig doi: 10.1007/s40261-014-0208-z contributor: fullname: Papiris – volume: 124 start-page: 1363 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib16 article-title: Diagnosis of primary immunodeficiency: let your eyes do the talking publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2009.10.049 contributor: fullname: Shah – volume: 20 start-page: 61 year: 2001 ident: 10.1016/j.jaci.2015.04.049_bib401 article-title: The Wiskott-Aldrich syndrome publication-title: Clin Rev Allergy Immunol doi: 10.1385/CRIAI:20:1:61 contributor: fullname: Ochs – volume: 124 start-page: 3923 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib353 article-title: A human immunodeficiency caused by mutations in the PIK3R1 gene publication-title: J Clin Invest doi: 10.1172/JCI75746 contributor: fullname: Deau – volume: 108 start-page: 14914 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib695 article-title: Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.1106015108 contributor: fullname: Arima – volume: 151 start-page: 627 year: 2015 ident: 10.1016/j.jaci.2015.04.049_bib714 article-title: Distinct cutaneous manifestations and cold-induced leukocyte activation associated with PLCG2 mutations publication-title: JAMA Dermatol doi: 10.1001/jamadermatol.2014.5641 contributor: fullname: Aderibigbe – volume: 95 start-page: 102 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib768 article-title: Rituximab and intravenous immunoglobulin (IVIG) for the management of acquired factor VIII inhibitor in multiple myeloma: case report and review of literature publication-title: Int J Hematol doi: 10.1007/s12185-011-0968-7 contributor: fullname: Muzaffar – volume: 105 start-page: 205 year: 1996 ident: 10.1016/j.jaci.2015.04.049_bib628 article-title: Chronic mucocutaneous candidiasis. I. Altered antigen-stimulated IL-2, IL-4, IL-6 and interferon-gamma (IFN-gamma) production publication-title: Clin Exp Immunol doi: 10.1046/j.1365-2249.1996.d01-764.x contributor: fullname: Lilic – volume: 214 start-page: 56 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib642 article-title: Human natural killer cell development publication-title: Immunol Rev doi: 10.1111/j.1600-065X.2006.00451.x contributor: fullname: Freud – volume: 95 start-page: 96 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib172 article-title: PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2014.05.007 contributor: fullname: Stray-Pedersen – volume: 73 start-page: 630 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib483 article-title: AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED publication-title: Clin Endocrinol (Oxf) doi: 10.1111/j.1365-2265.2010.03862.x contributor: fullname: Cervato – volume: 691 start-page: 409 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib678 article-title: Lessons from anti-TNF biologics: infliximab failure in a TRAPS family with the T50M mutation in TNFRSF1A publication-title: Adv Exp Med Biol doi: 10.1007/978-1-4419-6612-4_43 contributor: fullname: Nedjai – volume: 360 start-page: 447 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib138 article-title: Gene therapy for immunodeficiency due to adenosine deaminase deficiency publication-title: N Engl J Med doi: 10.1056/NEJMoa0805817 contributor: fullname: Aiuti – volume: 32 start-page: e223 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib436 article-title: Accelerated phase of chediak higashi syndrome mimicking lymphoma—a case report publication-title: J Pediatr Hematol Oncol doi: 10.1097/MPH.0b013e3181e62663 contributor: fullname: Nargund – volume: 25 start-page: 2547 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib750 article-title: CD46-associated atypical hemolytic uremic syndrome with uncommon course caused by cblC deficiency publication-title: Pediatr Nephrol doi: 10.1007/s00467-010-1609-8 contributor: fullname: Bouts – volume: 38 start-page: 8 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib101 article-title: Novel mutations and diverse clinical phenotypes in recombinase-activating gene 1 deficiency publication-title: Ital J Pediatr doi: 10.1186/1824-7288-38-8 contributor: fullname: Kutukculer – volume: 207 start-page: 1145 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib197 article-title: Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes publication-title: J Exp Med doi: 10.1084/jem.20091245 contributor: fullname: Westerberg – volume: 685 start-page: 175 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib99 article-title: Ligase IV syndrome publication-title: Adv Exp Med Biol doi: 10.1007/978-1-4419-6448-9_16 contributor: fullname: Chistiakov – volume: 133 start-page: 287 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib174 article-title: Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter publication-title: Clin Immunol doi: 10.1016/j.clim.2009.08.006 contributor: fullname: Borzutzky – volume: 89 start-page: 432 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib667 article-title: Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2011.07.022 contributor: fullname: Onoufriadis – volume: 137 start-page: 179 year: 2004 ident: 10.1016/j.jaci.2015.04.049_bib207 article-title: The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents publication-title: Clin Exp Immunol doi: 10.1111/j.1365-2249.2004.02492.x contributor: fullname: Stray-Pedersen – volume: 134 start-page: 223 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib570 article-title: Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2014.01.041 contributor: fullname: Chou – volume: 62 start-page: 250 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib663 article-title: Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism publication-title: Arthritis Rheum doi: 10.1002/art.25035 contributor: fullname: Yasui – volume: 131 start-page: 1227 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib91 article-title: First reported case of Omenn syndrome in a patient with reticular dysgenesis publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2012.07.045 contributor: fullname: Henderson – volume: 365 start-page: 620 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib666 article-title: Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis publication-title: N Engl J Med doi: 10.1056/NEJMoa1013068 contributor: fullname: Marrakchi – volume: 127 start-page: 1414 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib55 article-title: Longitudinal decline in lung function in patients with primary immunoglobulin deficiencies publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.03.041 contributor: fullname: Chen – volume: 28 start-page: 353 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib232 article-title: Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome publication-title: Immunol Allergy Clin North Am doi: 10.1016/j.iac.2008.01.003 contributor: fullname: Sullivan – volume: 422 start-page: 83 year: 2003 ident: 10.1016/j.jaci.2015.04.049_bib631 article-title: Apolipoprotein L-I is the trypanosome lytic factor of human serum publication-title: Nature doi: 10.1038/nature01461 contributor: fullname: Vanhamme – volume: 27 start-page: 233 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib283 article-title: Role of omalizumab in a patient with hyper-IgE syndrome and review dermatologic manifestations publication-title: Asian Pac J Allergy Immunol contributor: fullname: Chularojanamontri – volume: 126 start-page: 611 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib259 article-title: Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2010.06.029 contributor: fullname: Schimke – volume: 89 start-page: 716 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib312 article-title: Pneumocystis jiroveci pneumonia as an atypical presentation of X-linked agammaglobulinemia publication-title: Int J Hematol doi: 10.1007/s12185-009-0322-5 contributor: fullname: Kanegane – volume: 119 start-page: 4009 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib639 article-title: Bilateral adrenal EBV-associated smooth muscle tumors in a child with a natural killer cell deficiency publication-title: Blood doi: 10.1182/blood-2011-10-385377 contributor: fullname: Shaw – volume: 74 start-page: 825 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib705 article-title: Early-onset sensorineural hearing loss is a prominent feature of H syndrome publication-title: Int J Pediatr Otorhinolaryngol doi: 10.1016/j.ijporl.2010.03.053 contributor: fullname: Ramot – volume: 96 start-page: 8693 year: 1999 ident: 10.1016/j.jaci.2015.04.049_bib525 article-title: A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.96.15.8693 contributor: fullname: Nunoi – ident: 10.1016/j.jaci.2015.04.049_bib635 – volume: 58 start-page: 252 year: 2003 ident: 10.1016/j.jaci.2015.04.049_bib566 article-title: Relationship of anti-GM-CSF antibody concentration, surfactant protein A and B levels, and serum LDH to pulmonary parameters and response to GM-CSF therapy in patients with idiopathic alveolar proteinosis publication-title: Thorax doi: 10.1136/thorax.58.3.252 contributor: fullname: Seymour – volume: 26 start-page: 252 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib679 article-title: Treatment of hereditary autoinflammatory diseases publication-title: Curr Opin Rheumatol doi: 10.1097/BOR.0000000000000059 contributor: fullname: Ter Haar – volume: 62 start-page: 258 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib650 article-title: Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome publication-title: Arthritis Rheum doi: 10.1002/art.25057 contributor: fullname: Neven – volume: 59 start-page: 447 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib674 article-title: Autoinflammatory syndromes publication-title: Pediatr Clin North Am doi: 10.1016/j.pcl.2012.03.005 contributor: fullname: Hashkes – volume: 342 start-page: 1611 year: 2000 ident: 10.1016/j.jaci.2015.04.049_bib313 article-title: Regional enteritis associated with enterovirus in a patient with X-linked agammaglobulinemia publication-title: N Engl J Med doi: 10.1056/NEJM200005253422113 contributor: fullname: Cellier – volume: 121 start-page: 5078 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib503 article-title: The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy publication-title: Blood doi: 10.1182/blood-2012-12-475566 contributor: fullname: Stepensky – volume: 33 start-page: 1057 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib554 article-title: Recurrent Burkholderia gladioli suppurative lymphadenitis associated with neutralizing anti-IL-12p70 autoantibodies publication-title: J Clin Immunol doi: 10.1007/s10875-013-9908-z contributor: fullname: Sim – volume: 90 start-page: 1 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib231 article-title: Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) publication-title: Medicine (Baltimore) doi: 10.1097/MD.0b013e3182060469 contributor: fullname: McDonald-McGinn – volume: 130 start-page: S1 issue: suppl year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib413 article-title: Use and interpretation of diagnostic vaccination in primary immunodeficiency: a working group report of the Basic and Clinical Immunology Interest Section of the American Academy of Allergy, Asthma & Immunology publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2012.07.002 contributor: fullname: Orange – volume: 1250 start-page: 50 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib515 article-title: Leukocyte adhesion deficiencies publication-title: Ann N Y Acad Sci doi: 10.1111/j.1749-6632.2011.06389.x contributor: fullname: Hanna – volume: 12 start-page: 44 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib661 article-title: Blau syndrome, clinical and genetic aspects publication-title: Autoimmun Rev doi: 10.1016/j.autrev.2012.07.028 contributor: fullname: Sfriso – volume: 116 start-page: 137 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib100 article-title: A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation publication-title: J Clin Invest doi: 10.1172/JCI26121 contributor: fullname: van der Burg – volume: 33 start-page: 742 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib385 article-title: Clinical symptoms in adults with selective IgA deficiency: a case-control study publication-title: J Clin Immunol doi: 10.1007/s10875-012-9858-x contributor: fullname: Jorgensen – volume: 20 start-page: 16 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib516 article-title: Lessons from rare maladies: leukocyte adhesion deficiency syndromes publication-title: Curr Opin Hematol contributor: fullname: Harris – volume: 1 start-page: CD004386 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib59 article-title: Antibiotic prophylaxis for bacterial infections in afebrile neutropenic patients following chemotherapy publication-title: Cochrane Database Syst Rev contributor: fullname: Gafter-Gvili – volume: 65 start-page: 173 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib560 article-title: Opportunistic infections in patients with pulmonary alveolar proteinosis publication-title: J Infect doi: 10.1016/j.jinf.2012.03.020 contributor: fullname: Punatar – volume: 7 start-page: e44010 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib175 article-title: Inherited MST1 deficiency underlies susceptibility to EV-HPV infections publication-title: PLoS One doi: 10.1371/journal.pone.0044010 contributor: fullname: Crequer – volume: 33 start-page: 229 year: 2001 ident: 10.1016/j.jaci.2015.04.049_bib629 article-title: Chronic mucocutaneous candidiasis revisited publication-title: Allerg Immunol (Paris) contributor: fullname: Palma-Carlos – volume: 14 start-page: 130 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib702 article-title: Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitis publication-title: Curr Rheumatol Rep doi: 10.1007/s11926-012-0239-5 contributor: fullname: Ferguson – volume: 19 start-page: 141 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib745 article-title: Cooperation between MASP-1 and MASP-2 in the generation of C3 convertase through the MBL pathway publication-title: Int Immunol doi: 10.1093/intimm/dxl131 contributor: fullname: Moller-Kristensen – volume: 27 start-page: 34 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib397 article-title: Antibody deficiency in chronic rhinosinusitis: epidemiology and burden of illness publication-title: Am J Rhinol Allergy doi: 10.2500/ajra.2013.27.3831 contributor: fullname: Ocampo – volume: 218 start-page: 376 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib447 article-title: Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation publication-title: Dermatology doi: 10.1159/000203646 contributor: fullname: Rossi – volume: 7 start-page: 14 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib683 article-title: Nummular keratopathy in a patient with hyper-IgD syndrome publication-title: Pediatr Rheumatol Online J doi: 10.1186/1546-0096-7-14 contributor: fullname: Kraus – volume: 21 start-page: 1219 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib221 article-title: Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects publication-title: Eur J Hum Genet doi: 10.1038/ejhg.2013.40 contributor: fullname: Weemaes – volume: 144 start-page: 120 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib196 article-title: A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene publication-title: Br J Haematol doi: 10.1111/j.1365-2141.2008.07416.x contributor: fullname: Beel – volume: 218 start-page: 828 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib499 article-title: Identifying patients with neutrophil elastase (ELANE) mutations from patients with a presumptive diagnosis of autoimmune neutropenia publication-title: Immunobiology doi: 10.1016/j.imbio.2012.09.001 contributor: fullname: Lee – volume: 118 start-page: 3143 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib140 article-title: Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients publication-title: J Clin Invest doi: 10.1172/JCI35798 contributor: fullname: Howe – volume: 5 start-page: 315 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib655 article-title: Canakinumab in patients with cryopyrin-associated periodic syndrome: an update for clinicians publication-title: Ther Adv Musculoskelet Dis doi: 10.1177/1759720X13502629 contributor: fullname: Kuemmerle-Deschner – volume: 126 start-page: 43 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib230 article-title: Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome publication-title: Methods Mol Med contributor: fullname: Driscoll – volume: 46 start-page: 214 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib604 article-title: A distinct variant of Epidermodysplasia verruciformis in a Turkish family lacking EVER1 and EVER2 mutations publication-title: J Dermatol Sci doi: 10.1016/j.jdermsci.2007.01.002 contributor: fullname: Akgul – volume: 60 start-page: 332 year: 2015 ident: 10.1016/j.jaci.2015.04.049_bib718 article-title: Clinical features of interleukin 10 receptor gene mutations in children with very early-onset inflammatory bowel disease publication-title: J Pediatr Gastroenterol Nutr doi: 10.1097/MPG.0000000000000621 contributor: fullname: Beser – volume: 1246 start-page: 34 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib271 article-title: Molecular mechanisms of the immunological abnormalities in hyper-IgE syndrome publication-title: Ann N Y Acad Sci doi: 10.1111/j.1749-6632.2011.06280.x contributor: fullname: Minegishi – volume: 70 start-page: 2155 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib686 article-title: On-demand anakinra treatment is effective in mevalonate kinase deficiency publication-title: Ann Rheum Dis doi: 10.1136/ard.2011.149922 contributor: fullname: Bodar – volume: 143 start-page: 266 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib265 article-title: Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait publication-title: Clin Immunol doi: 10.1016/j.clim.2012.03.002 contributor: fullname: Al-Herz – volume: 33 start-page: 30 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib372 article-title: Use of combination chemotherapy for treatment of granulomatous and lymphocytic interstitial lung disease (GLILD) in patients with common variable immunodeficiency (CVID) publication-title: J Clin Immunol doi: 10.1007/s10875-012-9755-3 contributor: fullname: Chase – volume: 27 start-page: 497 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib7 article-title: Population prevalence of diagnosed primary immunodeficiency diseases in the United States publication-title: J Clin Immunol doi: 10.1007/s10875-007-9103-1 contributor: fullname: Boyle – volume: 44 start-page: 155 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib185 article-title: Use of the term ‘hyper IgM syndrome’ publication-title: J Paediatr Child Health doi: 10.1111/j.1440-1754.2007.01283.x contributor: fullname: Kemp – volume: 10 start-page: 227 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib502 article-title: Two cases of syndromic neutropenia with a report of novel mutation in G6PC3 publication-title: Iran J Allergy Asthma Immunol contributor: fullname: Alizadeh – volume: 129 start-page: 176 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib66 article-title: Excellent survival after sibling or unrelated donor stem cell transplantation for chronic granulomatous disease publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.10.005 contributor: fullname: Martinez – volume: 84 start-page: 274 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib596 article-title: Successful umbilical cord blood stem cell transplantation in a child with WHIM syndrome publication-title: Eur J Haematol doi: 10.1111/j.1600-0609.2009.01368.x contributor: fullname: Krivan – volume: 360 start-page: 2438 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib659 article-title: An autoinflammatory disease due to homozygous deletion of the IL1RN locus publication-title: N Engl J Med doi: 10.1056/NEJMoa0809568 contributor: fullname: Reddy – volume: 56 start-page: 444 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib512 article-title: Hematopoietic stem cell transplantation in severe congenital neutropenia publication-title: Pediatr Blood Cancer doi: 10.1002/pbc.22836 contributor: fullname: Carlsson – volume: 12 start-page: 506 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib588 article-title: Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder? publication-title: Autoimmun Rev doi: 10.1016/j.autrev.2012.08.012 contributor: fullname: Fazzi – volume: 17 start-page: 373 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib527 article-title: A novel seven-base deletion of the CTSC gene identified in a Hungarian family with Papillon-Lefevre syndrome publication-title: Arch Dermatol Res contributor: fullname: Farkas – volume: 145 start-page: 102 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib290 article-title: Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110 publication-title: Clin Immunol doi: 10.1016/j.clim.2012.07.016 contributor: fullname: Wang – volume: 145 start-page: 729 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib567 article-title: Duration of benefit in patients with autoimmune pulmonary alveolar proteinosis after inhaled granulocyte-macrophage colony-stimulating factor therapy publication-title: Chest doi: 10.1378/chest.13-0603 contributor: fullname: Tazawa – volume: 12 start-page: 616 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib620 article-title: Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis publication-title: Curr Opin Allergy Clin Immunol doi: 10.1097/ACI.0b013e328358cc0b contributor: fullname: Puel – volume: 6 start-page: 399 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib637 article-title: Human natural killer cell deficiencies publication-title: Curr Opin Allergy Clin Immunol doi: 10.1097/ACI.0b013e3280106b65 contributor: fullname: Orange – volume: 354 start-page: 1913 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib112 article-title: Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency publication-title: N Engl J Med doi: 10.1056/NEJMoa053750 contributor: fullname: Rieux-Laucat – volume: 2012 start-page: 261470 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib121 article-title: Characterizing T Cells in SCID Patients Presenting with Reactive or Residual T Lymphocytes publication-title: Clin Dev Immunol doi: 10.1155/2012/261470 contributor: fullname: Lev – volume: 98 start-page: 473 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib359 article-title: Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27 publication-title: Haematologica doi: 10.3324/haematol.2012.068791 contributor: fullname: Salzer – volume: 95 start-page: 51 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib14 article-title: Tolerance and autoimmunity: lessons at the bedside of primary immunodeficiencies publication-title: Adv Immunol doi: 10.1016/S0065-2776(07)95002-6 contributor: fullname: Carneiro-Sampaio – volume: 55 start-page: 227 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib753 article-title: The role of complement Factor H in age-related macular degeneration: a review publication-title: Surv Ophthalmol doi: 10.1016/j.survophthal.2009.11.001 contributor: fullname: Donoso – volume: 45 start-page: 847 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib204 article-title: Evaluation and management of pulmonary disease in ataxia-telangiectasia publication-title: Pediatr Pulmonol doi: 10.1002/ppul.21277 contributor: fullname: McGrath-Morrow – volume: 7 start-page: S6 issue: suppl 1 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib709 article-title: Cherubism: best clinical practice publication-title: Orphanet J Rare Dis doi: 10.1186/1750-1172-7-S1-S6 contributor: fullname: Papadaki – volume: 601 start-page: 61 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib210 article-title: Nijmegen breakage syndrome publication-title: Adv Exp Med Biol doi: 10.1007/978-0-387-72005-0_6 contributor: fullname: Kondratenko – volume: 114 start-page: 147 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib280 article-title: Hyper-IgE syndrome: dental implications publication-title: Oral Surg Oral Med Oral Pathol Oral Radiol doi: 10.1016/j.oooo.2012.04.005 contributor: fullname: Esposito – volume: 2 start-page: 356 year: 2002 ident: 10.1016/j.jaci.2015.04.049_bib393 article-title: Immunoglobulin G subclass deficiency: fact or fancy? publication-title: Curr Allergy Asthma Rep doi: 10.1007/s11882-002-0067-1 contributor: fullname: Buckley – volume: 18 start-page: 56 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib452 article-title: Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease publication-title: Mol Med doi: 10.2119/molmed.2011.00198 contributor: fullname: Gochuico – volume: 111 start-page: 439 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib201 article-title: Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation publication-title: Blood doi: 10.1182/blood-2007-03-076679 contributor: fullname: Ozsahin – volume: 33 start-page: S90 issue: suppl 2 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib407 article-title: Using intravenous immunoglobulin (IVIG) to treat patients with primary immune deficiency disease publication-title: J Clin Immunol doi: 10.1007/s10875-012-9838-1 contributor: fullname: Bonagura – volume: 6 start-page: e1000833 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib706 article-title: Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease publication-title: PLoS Genet doi: 10.1371/journal.pgen.1000833 contributor: fullname: Morgan – volume: 155 start-page: 468 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib226 article-title: Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey publication-title: Br J Haematol doi: 10.1111/j.1365-2141.2011.08863.x contributor: fullname: Bienemann – volume: 312 start-page: 729 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib9 article-title: Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States publication-title: JAMA doi: 10.1001/jama.2014.9132 contributor: fullname: Kwan – volume: 50 start-page: 1524 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib389 article-title: Screening of Canadian Blood Services donors for severe immunoglobulin A deficiency publication-title: Transfusion doi: 10.1111/j.1537-2995.2010.02588.x contributor: fullname: Palmer – volume: 38 start-page: 61 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib513 article-title: Hematopoetic stem cell transplantation in neutrophil disorders: severe congenital neutropenia, leukocyte adhesion deficiency and chronic granulomatous disease publication-title: Clin Rev Allergy Immunol doi: 10.1007/s12016-009-8129-y contributor: fullname: Elhasid – volume: 147 start-page: 155 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib708 article-title: Monogenic autoinflammatory diseases: concept and clinical manifestations publication-title: Clin Immunol doi: 10.1016/j.clim.2013.03.016 contributor: fullname: Almeida de Jesus – volume: 112 start-page: 287 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib244 article-title: Idiopathic CD4+ lymphocytopenia: natural history and prognostic factors publication-title: Blood doi: 10.1182/blood-2007-12-127878 contributor: fullname: Zonios – volume: 48 start-page: 81 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib261 article-title: Lung function in hyper IgE syndrome publication-title: Pediatr Pulmonol doi: 10.1002/ppul.22532 contributor: fullname: Roxo – volume: 63 start-page: 2407 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib485 article-title: Association of endogenous anti-interferon-alpha autoantibodies with decreased interferon-pathway and disease activity in patients with systemic lupus erythematosus publication-title: Arthritis Rheum doi: 10.1002/art.30399 contributor: fullname: Morimoto – volume: 14 start-page: F55 year: 2000 ident: 10.1016/j.jaci.2015.04.049_bib30 article-title: Progressive specific immune attrition after primary, secondary and tertiary immunizations with bacteriophage phi X174 in asymptomatic HIV-1 infected patients publication-title: AIDS doi: 10.1097/00002030-200003100-00004 contributor: fullname: Rubinstein – volume: 337 start-page: 1684 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib550 article-title: Mycobacterial disease and impaired IFN-gamma immunity in humans with inherited ISG15 deficiency publication-title: Science doi: 10.1126/science.1224026 contributor: fullname: Bogunovic – volume: 92 start-page: 281 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib40 article-title: Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males publication-title: Haematologica doi: 10.3324/haematol.10172 contributor: fullname: Erdos – volume: 1 start-page: 191 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib208 article-title: Nijmegen breakage syndrome and functions of the responsible protein, NBS1 publication-title: Genome Dyn doi: 10.1159/000092508 contributor: fullname: Antoccia – volume: 5 start-page: 227 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib399 article-title: The four most common pediatric immunodeficiencies publication-title: J Immunotoxicol doi: 10.1080/15476910802129646 contributor: fullname: Stiehm – volume: 342 start-page: 320 year: 2000 ident: 10.1016/j.jaci.2015.04.049_bib187 article-title: Correction of the hyper-IgM syndrome after liver and bone marrow transplantation publication-title: N Engl J Med doi: 10.1056/NEJM200002033420504 contributor: fullname: Hadzic – volume: 99 start-page: 462 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib25 article-title: Assessment and clinical interpretation of polysaccharide antibody responses publication-title: Ann Allergy Asthma Immunol doi: 10.1016/S1081-1206(10)60572-8 contributor: fullname: Paris – volume: 97 start-page: 478 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib412 article-title: Specific antibody deficiency in children with chronic wet cough publication-title: Arch Dis Child doi: 10.1136/archdischild-2011-300691 contributor: fullname: Lim – volume: 37 start-page: 396 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib408 article-title: Immunoglobulin treatment in primary antibody deficiency publication-title: Int J Antimicrob Agents doi: 10.1016/j.ijantimicag.2010.11.027 contributor: fullname: Maarschalk-Ellerbroek – volume: 55 start-page: 292 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib523 article-title: Intractable diarrhoea of infancy caused by neutrophil specific granule deficiency and cured by stem cell transplantation publication-title: Gut doi: 10.1136/gut.2005.081927 contributor: fullname: Wynn – volume: 510 start-page: 288 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib153 article-title: CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation publication-title: Nature doi: 10.1038/nature13386 contributor: fullname: Martin – volume: 79 start-page: 1263 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib438 article-title: Generalized periodontitis associated with Chediak-Higashi syndrome publication-title: J Periodontol doi: 10.1902/jop.2008.070440 contributor: fullname: Bailleul-Forestier – volume: 369 start-page: 54 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib504 article-title: A congenital neutrophil defect syndrome associated with mutations in VPS45 publication-title: N Engl J Med doi: 10.1056/NEJMoa1301296 contributor: fullname: Vilboux – volume: 122 start-page: 1087 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib64 article-title: Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2008.09.045 contributor: fullname: Griffith – volume: 285 start-page: 23208 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib615 article-title: A role for Toll-like receptor 3 variants in host susceptibility to enteroviral myocarditis and dilated cardiomyopathy publication-title: J Biol Chem doi: 10.1074/jbc.M109.047464 contributor: fullname: Gorbea – volume: 48 start-page: 4672 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib307 article-title: Bacteremia caused by a novel helicobacter species in a 28-year-old man with X-linked agammaglobulinemia publication-title: J Clin Microbiol doi: 10.1128/JCM.01350-10 contributor: fullname: Schwarze-Zander – volume: 33 start-page: S57 issue: suppl 1 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib414 article-title: Recurrent respiratory infections, specific antibody deficiencies, and memory B cells publication-title: J Clin Immunol doi: 10.1007/s10875-012-9814-9 contributor: fullname: Leiva – volume: 19 start-page: 2092 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib65 article-title: Retroviral gene therapy for X-linked chronic granulomatous disease: results from phase I/II trial publication-title: Mol Ther doi: 10.1038/mt.2011.166 contributor: fullname: Kang – volume: 34 start-page: e232 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib281 article-title: Diffuse large B-cell lymphoma in a patient with hyper-IgE syndrome: Successful treatment with risk-adapted rituximab-based immunochemotherapy publication-title: Leuk Res doi: 10.1016/j.leukres.2010.01.024 contributor: fullname: Belada – volume: 98 start-page: 1062 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib102 article-title: Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings publication-title: Acta Paediatr doi: 10.1111/j.1651-2227.2009.01250.x contributor: fullname: Pasic – volume: 109 start-page: 10456 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib116 article-title: CD45-deficient severe combined immunodeficiency caused by uniparental disomy publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.1202249109 contributor: fullname: Roberts – volume: 147 start-page: 256 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib492 article-title: Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome) publication-title: J Pediatr doi: 10.1016/j.jpeds.2005.04.017 contributor: fullname: Bindl – volume: 30 start-page: 1243 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib171 article-title: Purine nucleoside phosphorylase deficiency: a mutation update publication-title: Nucleosides Nucleotides Nucleic Acids doi: 10.1080/15257770.2011.630852 contributor: fullname: Walker – volume: 159 start-page: 344 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib396 article-title: Immunological and clinical profile of adult patients with selective immunoglobulin subclass deficiency: response to intravenous immunoglobulin therapy publication-title: Clin Exp Immunol doi: 10.1111/j.1365-2249.2009.04062.x contributor: fullname: Abrahamian – volume: 29 start-page: 1315 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib310 article-title: Campylobacter jejuni bacteremia and Helicobacter pylori in a patient with X-linked agammaglobulinemia publication-title: Eur J Clin Microbiol Infect Dis doi: 10.1007/s10096-010-0999-7 contributor: fullname: van den Bruele – volume: 343 start-page: 61 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib761 article-title: Hemolytic assay for the measurement of functional human mannose-binding lectin: a modification to avoid interference from classical pathway activation publication-title: J Immunol Methods doi: 10.1016/j.jim.2009.01.002 contributor: fullname: Herpers – volume: 17 start-page: 1383 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib386 article-title: Selective IgA deficiency in autoimmune diseases publication-title: Mol Med doi: 10.2119/molmed.2011.00195 contributor: fullname: Wang – volume: 236 start-page: 1 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib214 article-title: Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis publication-title: Cancer Lett doi: 10.1016/j.canlet.2005.04.023 contributor: fullname: Amor-Gueret – volume: 113 start-page: 1967 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib345 article-title: Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes publication-title: Blood doi: 10.1182/blood-2008-02-141937 contributor: fullname: Salzer – volume: 2 start-page: 62 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib479 article-title: Autoimmune polyglandular syndrome type 1 publication-title: J Clin Imaging Sci doi: 10.4103/2156-7514.103018 contributor: fullname: Ponranjini – volume: 131 start-page: 1604 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib74 article-title: Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2012.08.054 contributor: fullname: la Marca – volume: 57 start-page: 69 year: 2002 ident: 10.1016/j.jaci.2015.04.049_bib760 article-title: Association of parvovirus B19 infection with acute glomerulonephritis in healthy adults: case report and review of the literature publication-title: Clin Nephrol doi: 10.5414/CNP57069 contributor: fullname: Mori – volume: 99 start-page: 872 year: 2002 ident: 10.1016/j.jaci.2015.04.049_bib136 article-title: Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival publication-title: Blood doi: 10.1182/blood.V99.3.872 contributor: fullname: Myers – volume: 116 start-page: 1263 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib103 article-title: Hypomorphic Rag mutations can cause destructive midline granulomatous disease publication-title: Blood doi: 10.1182/blood-2010-02-267583 contributor: fullname: De Ravin – volume: 7 start-page: 4 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib558 article-title: Pulmonary alveolar proteinosis: diagnostic and therapeutic challenges publication-title: Multidiscip Respir Med doi: 10.1186/2049-6958-7-4 contributor: fullname: Campo – volume: 48 start-page: 413 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib156 article-title: FOXN1 mutation abrogates prenatal T-cell development in humans publication-title: J Med Genet doi: 10.1136/jmg.2011.089532 contributor: fullname: Vigliano – start-page: 344 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib510 article-title: Congenital neutropenia publication-title: Hematology Am Soc Hematol Educ Program doi: 10.1182/asheducation-2009.1.344 contributor: fullname: Klein – volume: 132 start-page: 473 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib291 article-title: Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in dyskeratosis congenita publication-title: Hum Genet doi: 10.1007/s00439-013-1265-8 contributor: fullname: Ballew – volume: 141 start-page: 128 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib269 article-title: Deficient T cell receptor excision circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening publication-title: Clin Immunol doi: 10.1016/j.clim.2011.06.003 contributor: fullname: Dasouki – volume: 130 start-page: 735 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib289 article-title: Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2012.02.054 contributor: fullname: Cliffe – volume: 3 start-page: 349 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib134 article-title: Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID) publication-title: Biologics contributor: fullname: Booth – volume: 98 start-page: 719 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib164 article-title: Clinical and immunological aspects of HLA class I deficiency publication-title: QJM doi: 10.1093/qjmed/hci112 contributor: fullname: Zimmer – volume: 125 start-page: 778 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib12 article-title: Clinical consequences of defects in B-cell development publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2010.02.018 contributor: fullname: Vale – volume: 8 start-page: 27 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib508 article-title: New clinical and molecular insights on Barth syndrome publication-title: Orphanet J Rare Dis doi: 10.1186/1750-1172-8-27 contributor: fullname: Ferri – volume: 1238 start-page: 106 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib462 article-title: Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease publication-title: Ann N Y Acad Sci doi: 10.1111/j.1749-6632.2011.06265.x contributor: fullname: Marsh – volume: 80 start-page: 8 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib465 article-title: Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry publication-title: Cytometry B Clin Cytom doi: 10.1002/cyto.b.20552 contributor: fullname: Zhao – volume: 126 start-page: 120 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib333 article-title: Recurrent and persistent respiratory tract viral infections in patients with primary hypogammaglobulinemia publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2010.04.016 contributor: fullname: Kainulainen – volume: 24 start-page: 721 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib422 article-title: Evolution of hypogammaglobulinemia in premature and full-term infants publication-title: Int J Immunopathol Pharmacol doi: 10.1177/039463201102400318 contributor: fullname: Ricci – volume: 117 start-page: 53 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib460 article-title: X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease publication-title: Blood doi: 10.1182/blood-2010-06-284935 contributor: fullname: Booth – volume: 11 start-page: 197 year: 1984 ident: 10.1016/j.jaci.2015.04.049_bib607 article-title: Response of warts in epidermodysplasia verruciformis to treatment with systemic and intralesional alpha interferon publication-title: J Am Acad Dermatol doi: 10.1016/S0190-9622(84)70149-6 contributor: fullname: Androphy – volume: 205 start-page: 2465 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib223 article-title: Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination publication-title: J Exp Med doi: 10.1084/jem.20080789 contributor: fullname: Peron – volume: 112 start-page: 1707 year: 2003 ident: 10.1016/j.jaci.2015.04.049_bib322 article-title: A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans publication-title: J Clin Invest doi: 10.1172/JCI18937 contributor: fullname: Sawada – volume: 31 start-page: 118 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib648 article-title: Inherited autoinflammatory diseases: a critical digest of the recent literature publication-title: Clin Exp Rheumatol contributor: fullname: Omenetti – volume: 25 start-page: 131 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib252 article-title: The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum publication-title: Best Pract Res Clin Endocrinol Metab doi: 10.1016/j.beem.2010.08.004 contributor: fullname: Thiel – volume: 32 start-page: 579 year: 2002 ident: 10.1016/j.jaci.2015.04.049_bib602 article-title: Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis publication-title: Nat Genet doi: 10.1038/ng1044 contributor: fullname: Ramoz – volume: 72 start-page: 410 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib703 article-title: Efficacy of anti-IL-1 treatment in Majeed syndrome publication-title: Ann Rheum Dis doi: 10.1136/annrheumdis-2012-201818 contributor: fullname: Herlin – volume: 39 start-page: 1966 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib182 article-title: Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity publication-title: Eur J Immunol doi: 10.1002/eji.200939385 contributor: fullname: Picard – volume: 127 start-page: 1351 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib70 article-title: Induction of tolerance to parental parathyroid grafts using allogeneic thymus tissue in patients with DiGeorge anomaly publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.03.033 contributor: fullname: Chinn – volume: 31 start-page: 750 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib424 article-title: BCGitis in a patient with transient hypogammaglobulinemia of infancy publication-title: Pediatr Dermatol doi: 10.1111/pde.12036 contributor: fullname: Lynch – volume: 128 start-page: 1371 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib375 article-title: Outcome of allogeneic stem cell transplantation in adults with common variable immunodeficiency publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.07.055 contributor: fullname: Rizzi – volume: 11 start-page: 441 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib241 article-title: Unrelated partially matched lymphocyte infusions in a patient with complete DiGeorge/CHARGE syndrome publication-title: Pediatr Transplant doi: 10.1111/j.1399-3046.2007.00702.x contributor: fullname: Janda – volume: 144 start-page: 1662 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib282 article-title: Eczematous dermatitis in the setting of hyper-IgE syndrome successfully treated with omalizumab publication-title: Arch Dermatol doi: 10.1001/archdermatol.2008.510 contributor: fullname: Bard – volume: 95 start-page: 1805 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib469 article-title: Autoimmune lymphoproliferative syndrome: a multifactorial disorder publication-title: Haematologica doi: 10.3324/haematol.2010.030395 contributor: fullname: Rieux-Laucat – volume: 172 start-page: 257 year: 2015 ident: 10.1016/j.jaci.2015.04.049_bib278 article-title: Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies publication-title: Br J Dermatol doi: 10.1111/bjd.13247 contributor: fullname: Has – start-page: 74 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib77 article-title: Immunization in special clinical circumstances: immunocompromised children – volume: 7 start-page: S5 issue: suppl 1 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib710 article-title: The role of SH3BP2 in the pathophysiology of cherubism publication-title: Orphanet J Rare Dis doi: 10.1186/1750-1172-7-S1-S5 contributor: fullname: Reichenberger – volume: 95 start-page: 239 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib227 article-title: Molecular nature of radiation injury and DNA repair disorders associated with radiosensitivity publication-title: Int J Hematol doi: 10.1007/s12185-012-1008-y contributor: fullname: Masuda – volume: 63 start-page: 1044 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib486 article-title: Network analysis of associations between serum interferon-alpha activity, autoantibodies, and clinical features in systemic lupus erythematosus publication-title: Arthritis Rheum doi: 10.1002/art.30187 contributor: fullname: Weckerle – volume: 23 start-page: 419 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib681 article-title: Hyper-IgD syndrome or mevalonate kinase deficiency publication-title: Curr Opin Rheumatol doi: 10.1097/BOR.0b013e328349c3b1 contributor: fullname: Stoffels – volume: 2012 start-page: 301 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib331 article-title: The many faces of common variable immunodeficiency publication-title: Hematology Am Soc Hematol Educ Program doi: 10.1182/asheducation.V2012.1.301.3798316 contributor: fullname: Cunningham-Rundles – volume: 21 start-page: 343 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib420 article-title: A prospective study on children with initial diagnosis of transient hypogammaglobulinemia of infancy: results from the Italian Primary Immunodeficiency Network publication-title: Int J Immunopathol Pharmacol doi: 10.1177/039463200802100211 contributor: fullname: Moschese – volume: 116 start-page: 1079 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib461 article-title: XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease publication-title: Blood doi: 10.1182/blood-2010-01-256099 contributor: fullname: Marsh – volume: 45 start-page: 622 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib228 article-title: Successful SCT for Nijmegen breakage syndrome publication-title: Bone Marrow Transplant doi: 10.1038/bmt.2009.207 contributor: fullname: Albert – volume: 88 start-page: 255 year: 2015 ident: 10.1016/j.jaci.2015.04.049_bib360 article-title: Immunologic assessment and KMT2D mutation detection in Kabuki syndrome publication-title: Clin Genet doi: 10.1111/cge.12484 contributor: fullname: Lin – volume: 118 start-page: 1675 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib202 article-title: Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study publication-title: Blood doi: 10.1182/blood-2010-11-319376 contributor: fullname: Moratto – volume: 10 start-page: 173 year: 2003 ident: 10.1016/j.jaci.2015.04.049_bib225 article-title: Ataxia-telangiectasia: diagnosis and treatment publication-title: Semin Pediatr Neurol doi: 10.1016/S1071-9091(03)00026-3 contributor: fullname: Perlman – volume: 209 start-page: 291 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib97 article-title: Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis publication-title: J Exp Med doi: 10.1084/jem.20110325 contributor: fullname: Du – volume: 119 start-page: 91 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib98 article-title: A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining publication-title: J Clin Invest contributor: fullname: van der Burg – volume: 128 start-page: 1115 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib237 article-title: Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.06.043 contributor: fullname: Tison – volume: 44 start-page: 89 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib581 article-title: Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes publication-title: Immunol Res doi: 10.1007/s12026-008-8085-2 contributor: fullname: Permaul – volume: 5 start-page: 157 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib296 article-title: The diagnosis and treatment of dyskeratosis congenita: a review publication-title: J Blood Med contributor: fullname: Fernandez Garcia – volume: 9 start-page: 137 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib541 article-title: Granulocyte transfusions in children with chronic granulomatous disease and invasive aspergillosis publication-title: Ther Apher Dial doi: 10.1111/j.1774-9987.2005.00227.x contributor: fullname: Ikinciogullari – volume: 122 start-page: 798 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib638 article-title: Unraveling human natural killer cell deficiency publication-title: J Clin Invest doi: 10.1172/JCI62620 contributor: fullname: Orange – volume: 45 start-page: 1244 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib279 article-title: Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting publication-title: Nat Genet doi: 10.1038/ng.2739 contributor: fullname: Samuelov – volume: 20 start-page: 55 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib498 article-title: Neutropenia in primary immunodeficiency publication-title: Curr Opin Hematol doi: 10.1097/MOH.0b013e32835aef1c contributor: fullname: Sokolic – volume: 18 start-page: 362 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib597 article-title: Genetics of epidermodysplasia verruciformis: Insights into host defense against papillomaviruses publication-title: Semin Immunol doi: 10.1016/j.smim.2006.07.008 contributor: fullname: Orth – volume: 64 start-page: 2375 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib656 article-title: Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes publication-title: Arthritis Rheum doi: 10.1002/art.34409 contributor: fullname: Sibley – volume: 24 start-page: 1 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib470 article-title: New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome publication-title: Curr Opin Pediatr doi: 10.1097/MOP.0b013e32834ea739 contributor: fullname: Teachey – volume: 32 start-page: 942 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib534 article-title: Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease—identification of eight novel mutations in CYBB and NCF2 genes publication-title: J Clin Immunol doi: 10.1007/s10875-012-9698-8 contributor: fullname: Martel – volume: 116 start-page: 7 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib49 article-title: How I treat common variable immune deficiency publication-title: Blood doi: 10.1182/blood-2010-01-254417 contributor: fullname: Cunningham-Rundles – volume: 87 start-page: 87 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib248 article-title: Non-myeloablative hematopoietic stem cell transplantation in the treatment of severe idiopathic CD4+ lymphocytopenia publication-title: Eur J Haematol doi: 10.1111/j.1600-0609.2011.01619.x contributor: fullname: Cervera – volume: 4 start-page: 351 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib653 article-title: The central role of anti-IL-1 blockade in the treatment of monogenic and multi-factorial autoinflammatory diseases publication-title: Front Immunol doi: 10.3389/fimmu.2013.00351 contributor: fullname: Federici – volume: 133 start-page: 335 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib119 article-title: Primary Immune Deficiency Treatment Consortium (PIDTC) report publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2013.07.052 contributor: fullname: Griffith – volume: 34 start-page: 541 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib442 article-title: Molecular analysis and clinical findings of Griscelli syndrome patients publication-title: J Pediatr Hematol Oncol doi: 10.1097/MPH.0b013e31826781ad contributor: fullname: Durmaz – volume: 106 start-page: 40 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib440 article-title: Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome publication-title: Blood doi: 10.1182/blood-2005-01-0319 contributor: fullname: Tardieu – volume: 88 start-page: 796 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib220 article-title: Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2011.04.018 contributor: fullname: de Greef – volume: 11 start-page: 51 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib497 article-title: Prevention and control of infections in patients with severe congenital neutropenia; a follow up study publication-title: Iran J Allergy Asthma Immunol contributor: fullname: Salehi – volume: 21 start-page: 278 year: 2002 ident: 10.1016/j.jaci.2015.04.049_bib645 article-title: Invasive pneumococcal infections in children with asplenia publication-title: Pediatr Infect Dis J doi: 10.1097/00006454-200204000-00004 contributor: fullname: Schutze – volume: 14 start-page: 307 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib212 article-title: Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder publication-title: Hum Mol Genet doi: 10.1093/hmg/ddi027 contributor: fullname: Fernet – volume: 35 start-page: 380 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib235 article-title: The cutaneous manifestations of atypical complete DiGeorge syndrome: a histopathologic and immunohistochemical study publication-title: J Cutan Pathol doi: 10.1111/j.1600-0560.2007.00816.x contributor: fullname: Selim – volume: 132 start-page: 656 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib301 article-title: Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2013.06.013 contributor: fullname: Chen – volume: 146 start-page: 523 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib306 article-title: Pyoderma gangrenosum-like ulcer in a patient with X-linked agammaglobulinemia: identification of Helicobacter bilis by mass spectrometry analysis publication-title: Arch Dermatol doi: 10.1001/archdermatol.2010.86 contributor: fullname: Murray – volume: 120 start-page: e543 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib425 article-title: Low serum immunoglobulin G2 levels in infancy can be transient publication-title: Pediatrics doi: 10.1542/peds.2006-3613 contributor: fullname: Atkinson – volume: 36 start-page: 515 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib109 article-title: Inborn errors of human JAKs and STATs publication-title: Immunity doi: 10.1016/j.immuni.2012.03.016 contributor: fullname: Casanova – volume: 91 start-page: 713 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib713 article-title: A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2012.08.006 contributor: fullname: Zhou – volume: 131 start-page: 41 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib32 article-title: Analysis of in vitro lymphocyte proliferation as a screening tool for cellular immunodeficiency publication-title: Clin Immunol doi: 10.1016/j.clim.2008.11.003 contributor: fullname: Stone – volume: 99 start-page: 183 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib186 article-title: Granulocyte colony-stimulating factor: key (f)actor or innocent bystander in the development of secondary myeloid malignancy? publication-title: J Natl Cancer Inst doi: 10.1093/jnci/djk057 contributor: fullname: Touw – volume: 22 start-page: 313 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib295 article-title: Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum—a single-center pediatric experience publication-title: Pediatr Allergy Immunol doi: 10.1111/j.1399-3038.2010.01136.x contributor: fullname: Jyonouchi – volume: 34 start-page: J276 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib734 article-title: The complement system in systemic autoimmune disease publication-title: J Autoimmun doi: 10.1016/j.jaut.2009.11.014 contributor: fullname: Chen – volume: 20 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib404 article-title: Effect of anti-epileptic drugs on serum level of IgG subclasses publication-title: Iran J Pediatr contributor: fullname: Ashrafi – volume: 133 start-page: 1092 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib120 article-title: Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2013.09.044 contributor: fullname: Shearer – volume: 13 start-page: 113 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib272 article-title: Regulation and function of innate and adaptive interleukin-17-producing cells publication-title: EMBO Rep doi: 10.1038/embor.2011.248 contributor: fullname: Hirota – volume: 138 start-page: 3 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib72 article-title: Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey publication-title: Clin Immunol doi: 10.1016/j.clim.2010.09.010 contributor: fullname: Chan – volume: 44 start-page: 406 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib691 article-title: Anakinra for flares of pyogenic arthritis in PAPA syndrome publication-title: Rheumatology (Oxford) doi: 10.1093/rheumatology/keh479 contributor: fullname: Dierselhuis – volume: 175 start-page: 17 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib589 article-title: Aicardi-Goutieres syndrome: a model disease for systemic autoimmunity publication-title: Clin Exp Immunol doi: 10.1111/cei.12160 contributor: fullname: Lee-Kirsch – volume: 29 start-page: 367 year: 1999 ident: 10.1016/j.jaci.2015.04.049_bib39 article-title: CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization publication-title: Eur J Immunol doi: 10.1002/(SICI)1521-4141(199901)29:01<367::AID-IMMU367>3.0.CO;2-4 contributor: fullname: de Saint Basile – volume: 159 start-page: 332 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib238 article-title: Practical guidelines for managing patients with 22q11.2 deletion syndrome publication-title: J Pediatr doi: 10.1016/j.jpeds.2011.02.039 contributor: fullname: Bassett – volume: 118 start-page: 6824 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib106 article-title: IL-21 is the primary common gamma chain-binding cytokine required for human B-cell differentiation in vivo publication-title: Blood doi: 10.1182/blood-2011-06-362533 contributor: fullname: Recher – volume: 122 start-page: 821 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib217 article-title: Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency publication-title: J Clin Invest doi: 10.1172/JCI61014 contributor: fullname: Gineau – volume: 33 start-page: 748 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib367 article-title: Nodular regenerative hyperplasia in common variable immunodeficiency publication-title: J Clin Immunol doi: 10.1007/s10875-013-9873-6 contributor: fullname: Fuss – volume: 30 start-page: 10 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib6 article-title: Selective IgA deficiency publication-title: J Clin Immunol doi: 10.1007/s10875-009-9357-x contributor: fullname: Yel – volume: 22 start-page: 167 year: 1996 ident: 10.1016/j.jaci.2015.04.049_bib406 article-title: Post-immunization pneumococcal antibody titers and IgG subclasses publication-title: Pediatr Pulmonol doi: 10.1002/(SICI)1099-0496(199609)22:3<167::AID-PPUL5>3.0.CO;2-M contributor: fullname: Sorensen – volume: 117 start-page: 855 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib431 article-title: Defects of class-switch recombination publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2006.01.043 contributor: fullname: Notarangelo – volume: 120 start-page: 214 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib348 article-title: CD20 deficiency in humans results in impaired T cell-independent antibody responses publication-title: J Clin Invest doi: 10.1172/JCI40231 contributor: fullname: Kuijpers – volume: 23 start-page: 312 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib435 article-title: Hermansky-Pudlak/Chediak-Higashi syndromes publication-title: Cardiovasc J Afr contributor: fullname: Solomons – volume: 46 start-page: 402 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib132 article-title: Respiratory syncytial virus infection in patients with hematological diseases: single-center study and review of the literature publication-title: Clin Infect Dis doi: 10.1086/525263 contributor: fullname: Khanna – volume: 24 start-page: 515 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib83 article-title: Immune deficiency and autoimmunity publication-title: Curr Opin Rheumatol doi: 10.1097/BOR.0b013e32835680c6 contributor: fullname: Atkinson – volume: 58 start-page: 310 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib476 article-title: Immunomodulatory drugs in autoimmune lymphoproliferative syndrome (ALPS) publication-title: Pediatr Blood Cancer doi: 10.1002/pbc.23205 contributor: fullname: Tommasini – volume: 47 start-page: 646 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib519 article-title: Reduced-intensity conditioning hematopoietic SCT for pediatric patients with LAD-1: clinical efficacy and importance of chimerism publication-title: Bone Marrow Transplant doi: 10.1038/bmt.2011.140 contributor: fullname: Hamidieh – volume: 491 start-page: 769 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib616 article-title: Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells publication-title: Nature doi: 10.1038/nature11583 contributor: fullname: Lafaille – volume: 168 start-page: 87 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib183 article-title: Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency publication-title: Eur J Pediatr doi: 10.1007/s00431-008-0718-x contributor: fullname: Turul – volume: 21 start-page: 843 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib419 article-title: Transient hypogammaglobulinemia and unclassified hypogammaglobulinemia: ‘similarities and differences’ publication-title: Pediatr Allergy Immunol doi: 10.1111/j.1399-3038.2010.01010.x contributor: fullname: Keles – volume: 87 start-page: 1 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib468 article-title: Advances in autoimmune lymphoproliferative syndromes publication-title: Eur J Haematol doi: 10.1111/j.1600-0609.2011.01617.x contributor: fullname: Madkaikar – volume: 131 start-page: 1611 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib491 article-title: Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2012.11.054 contributor: fullname: Uzel – volume: 207 start-page: 299 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib481 article-title: Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines publication-title: J Exp Med doi: 10.1084/jem.20091669 contributor: fullname: Kisand – volume: 126 start-page: 1000 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib494 article-title: Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2010.05.021 contributor: fullname: Burroughs – volume: 16 start-page: 20 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib592 article-title: WHIM syndrome: congenital immune deficiency disease publication-title: Curr Opin Hematol doi: 10.1097/MOH.0b013e32831ac557 contributor: fullname: Kawai – volume: 9 start-page: 496 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib90 article-title: New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapy publication-title: Curr Opin Allergy Clin Immunol doi: 10.1097/ACI.0b013e3283327da5 contributor: fullname: Sauer – volume: 121 start-page: 864 year: 1985 ident: 10.1016/j.jaci.2015.04.049_bib605 article-title: X-linked inheritance of epidermodysplasia verruciformis. Genetic and virologic studies of a kindred publication-title: Arch Dermatol doi: 10.1001/archderm.1985.01660070054014 contributor: fullname: Androphy – volume: 8 start-page: 1643 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib448 article-title: Hermansky-Pudlak syndrome: the importance of molecular subtyping publication-title: J Thromb Haemost doi: 10.1111/j.1538-7836.2010.03898.x contributor: fullname: Thielen – volume: 48 start-page: 740 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib229 article-title: Long-term survival after allogeneic-matched sibling PBSC transplantation with conditioning consisting of low-dose busilvex and fludarabine in a 3-year-old boy with ataxia-telangiectasia syndrome and ALL publication-title: Bone Marrow Transplant doi: 10.1038/bmt.2012.207 contributor: fullname: Ussowicz – volume: 71 start-page: 916 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib255 article-title: Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia publication-title: Hum Immunol doi: 10.1016/j.humimm.2010.06.002 contributor: fullname: Horn – volume: 150 start-page: 234 year: 1991 ident: 10.1016/j.jaci.2015.04.049_bib402 article-title: IgG2 deficiency in children with human immunodeficiency virus infection publication-title: Eur J Pediatr doi: 10.1007/BF01955519 contributor: fullname: Bartmann – volume: 64 start-page: 2022 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib694 article-title: Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) publication-title: Arthritis Rheum doi: 10.1002/art.34332 contributor: fullname: Demidowich – volume: 10 start-page: 551 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib68 article-title: Update on gene therapy for adenosine deaminase-deficient severe combined immunodeficiency publication-title: Curr Opin Allergy Clin Immunol doi: 10.1097/ACI.0b013e32833fea85 contributor: fullname: Ferrua – volume: 45 start-page: 192 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib599 article-title: Current views on the role of human papillomaviruses in cutaneous oncogenesis publication-title: Int J Dermatol doi: 10.1111/j.1365-4632.2006.02758.x contributor: fullname: Majewski – volume: 110 start-page: 22 year: 2004 ident: 10.1016/j.jaci.2015.04.049_bib432 article-title: Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to activation-induced cytidine deaminase deficiency publication-title: Clin Immunol doi: 10.1016/j.clim.2003.10.007 contributor: fullname: Quartier – volume: 107 start-page: 50 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib579 article-title: Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels publication-title: Ann Allergy Asthma Immunol doi: 10.1016/j.anai.2011.03.009 contributor: fullname: Karamchandani-Patel – volume: 123 start-page: 799 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib571 article-title: GATA2 deficiency: flesh and blood publication-title: Blood doi: 10.1182/blood-2013-12-539858 contributor: fullname: Horwitz – volume: 1 start-page: 573 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib57 article-title: Antibiotic prophylaxis in primary immune deficiency disorders publication-title: J Allergy Clin Immunol Pract doi: 10.1016/j.jaip.2013.09.013 contributor: fullname: Kuruvilla – volume: 106 start-page: 13945 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib351 article-title: B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.0903543106 contributor: fullname: Warnatz – volume: 143 start-page: 96 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib189 article-title: Successful outcome in two patients with CD40 deficiency treated with allogeneic HCST publication-title: Clin Immunol doi: 10.1016/j.clim.2012.01.012 contributor: fullname: Al-Dhekri – volume: 24 start-page: 599 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib478 article-title: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl publication-title: J Pediatr Endocrinol Metab doi: 10.1515/jpem.2011.012 contributor: fullname: Kollios – volume: 441 start-page: 179 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib142 article-title: A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function publication-title: Nature doi: 10.1038/nature04702 contributor: fullname: Feske – volume: 29 start-page: 123 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib258 article-title: Clinical manifestations of hyper IgE syndromes publication-title: Dis Markers doi: 10.1155/2010/580197 contributor: fullname: Freeman – volume: 98 start-page: 313 year: 2001 ident: 10.1016/j.jaci.2015.04.049_bib29 article-title: Immunologic reconstitution following bone marrow transplantation for X-linked hyper IgM syndrome publication-title: Clin Immunol doi: 10.1006/clim.2000.4994 contributor: fullname: Duplantier – volume: 49 start-page: 1143 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib535 article-title: Fulminant mulch pneumonitis in undiagnosed chronic granulomatous disease: a medical emergency publication-title: Clin Pediatr (Phila) doi: 10.1177/0009922810370057 contributor: fullname: Ameratunga – volume: 9 start-page: 1307 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib88 article-title: The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency publication-title: Nat Immunol doi: 10.1038/ni.1662 contributor: fullname: Shiow – volume: 8 start-page: 407 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib739 article-title: Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome publication-title: Clin J Am Soc Nephrol doi: 10.2215/CJN.01260212 contributor: fullname: Hofer – volume: 171 start-page: 1527 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib441 article-title: Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients publication-title: Eur J Pediatr doi: 10.1007/s00431-012-1765-x contributor: fullname: Cagdas – volume: 31 start-page: 309 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib532 article-title: Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan publication-title: J Clin Immunol doi: 10.1007/s10875-010-9498-y contributor: fullname: Hoshina – volume: 35 start-page: 1942 year: 2003 ident: 10.1016/j.jaci.2015.04.049_bib328 article-title: Lung transplantation in patients with x-linked agammaglobulinemia publication-title: Transplant Proc doi: 10.1016/S0041-1345(03)00713-9 contributor: fullname: Morales – volume: 125 start-page: 1354 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib56 article-title: Infection outcomes in patients with common variable immunodeficiency disorders: relationship to immunoglobulin therapy over 22 years publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2010.02.040 contributor: fullname: Lucas – volume: 229 start-page: 101 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib346 article-title: The role of costimulation in antibody deficiencies: ICOS and common variable immunodeficiency publication-title: Immunol Rev doi: 10.1111/j.1600-065X.2009.00764.x contributor: fullname: Yong – volume: 121 start-page: 1357 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib553 article-title: Anti-IFN-gamma autoantibodies in adults with disseminated nontuberculous mycobacterial infections are associated with HLA-DRB1*16:02 and HLA-DQB1*05:02 and the reactivation of latent varicella-zoster virus infection publication-title: Blood doi: 10.1182/blood-2012-08-452482 contributor: fullname: Chi – volume: 19 start-page: 1106 year: 2000 ident: 10.1016/j.jaci.2015.04.049_bib326 article-title: Enteroviral meningoencephalitis in X-linked agammaglobulinemia: intensive immunoglobulin therapy and sequential viral detection in cerebrospinal fluid by polymerase chain reaction publication-title: Pediatr Infect Dis J doi: 10.1097/00006454-200011000-00020 contributor: fullname: Quartier – volume: 49 start-page: e76 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib556 article-title: Recurrent, multifocal Mycobacterium avium-intercellulare infection in a patient with interferon-gamma autoantibody publication-title: Clin Infect Dis doi: 10.1086/605581 contributor: fullname: Baerlecken – volume: 730 start-page: 43 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib292 article-title: Dyskeratosis congenita as a disorder of telomere maintenance publication-title: Mutat Res doi: 10.1016/j.mrfmmm.2011.06.008 contributor: fullname: Nelson – volume: 25 start-page: 492 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib127 article-title: Cutaneous manifestations of primary immunodeficiency publication-title: Curr Opin Pediatr doi: 10.1097/MOP.0b013e3283623b9f contributor: fullname: Sillevis Smitt – volume: 150 start-page: 43 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib277 article-title: Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome—contribution to new findings of immune dysregulation in connective tissue disorders publication-title: Clin Immunol doi: 10.1016/j.clim.2013.11.008 contributor: fullname: Felgentreff – volume: 6 start-page: 270 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib488 article-title: Autoimmune polyglandular syndromes publication-title: Nat Rev Endocrinol doi: 10.1038/nrendo.2010.40 contributor: fullname: Michels – volume: 121 start-page: 1357 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib484 article-title: Anti-IFN-γ autoantibodies in adults with disseminated nontuberculous mycobacterial infections are associated with HLA-DRB1*16:02 and DQB1*05:02 and the reactivation of latent varicella-zoster virus infection publication-title: Blood doi: 10.1182/blood-2012-08-452482 contributor: fullname: Chi – volume: 7 start-page: 42 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib737 article-title: Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion publication-title: Orphanet J Rare Dis doi: 10.1186/1750-1172-7-42 contributor: fullname: Alba-Dominguez – volume: 17 start-page: 862 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib28 article-title: Interlaboratory comparison of three multiplexed bead-based immunoassays for measuring serum antibodies to pneumococcal polysaccharides publication-title: Clin Vaccine Immunol doi: 10.1128/CVI.00022-10 contributor: fullname: Whaley – volume: 15 start-page: 22 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib434 article-title: Chediak-Higashi syndrome publication-title: Curr Opin Hematol doi: 10.1097/MOH.0b013e3282f2bcce contributor: fullname: Kaplan – volume: 4 start-page: 1356 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib736 article-title: A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure publication-title: Clin J Am Soc Nephrol doi: 10.2215/CJN.06281208 contributor: fullname: Lhotta – volume: 7 start-page: 469 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib672 article-title: Genetics of monogenic autoinflammatory diseases: past successes, future challenges publication-title: Nat Rev Rheumatol doi: 10.1038/nrrheum.2011.94 contributor: fullname: Aksentijevich – volume: 25 start-page: 1303 year: 2000 ident: 10.1016/j.jaci.2015.04.049_bib287 article-title: Bone marrow transplantation does not correct the hyper IgE syndrome publication-title: Bone Marrow Transplant doi: 10.1038/sj.bmt.1702446 contributor: fullname: Gennery – volume: 360 start-page: 2426 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib658 article-title: An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist publication-title: N Engl J Med doi: 10.1056/NEJMoa0807865 contributor: fullname: Aksentijevich – volume: 130 start-page: 1197 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib330 article-title: Confirmation and improvement of criteria for clinical phenotyping in common variable immunodeficiency disorders in replicate cohorts publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2012.05.046 contributor: fullname: Chapel – volume: 24 start-page: 72 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib634 article-title: A rare case of human trypanosomiasis caused by Trypanosoma evansi publication-title: Indian J Med Microbiol doi: 10.4103/0255-0857.19904 contributor: fullname: Powar – volume: 129 start-page: 801 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib349 article-title: Genetic CD21 deficiency is associated with hypogammaglobulinemia publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.09.027 contributor: fullname: Thiel – volume: 56 start-page: 189 year: 2001 ident: 10.1016/j.jaci.2015.04.049_bib390 article-title: Secondary hypogammaglobilinemia after use of carbamazepine: case report and review publication-title: Rev Hosp Clin Fac Med Sao Paulo doi: 10.1590/S0041-87812001000600006 contributor: fullname: Castro – volume: 43 start-page: 132 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib591 article-title: Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity publication-title: Nat Genet doi: 10.1038/ng.749 contributor: fullname: Lausch – volume: 148 start-page: 272 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib118 article-title: Omenn syndrome in an infant with IL7RA gene mutation publication-title: J Pediatr doi: 10.1016/j.jpeds.2005.10.004 contributor: fullname: Giliani – volume: 86 start-page: 13360 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib205 article-title: The cellular ataxia telangiectasia-mutated kinase promotes Epstein-Barr virus lytic reactivation in response to multiple different types of lytic reactivation-inducing stimuli publication-title: J Virol doi: 10.1128/JVI.01850-12 contributor: fullname: Hagemeier – volume: 122 start-page: 156 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib46 article-title: Anti-IgA antibodies in common variable immunodeficiency (CVID): diagnostic workup and therapeutic strategy publication-title: Clin Immunol doi: 10.1016/j.clim.2006.10.002 contributor: fullname: Horn – volume: 165 start-page: 1 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib371 article-title: Review of gastric cancer risk factors in patients with common variable immunodeficiency disorders, resulting in a proposal for a surveillance programme publication-title: Clin Exp Immunol doi: 10.1111/j.1365-2249.2011.04384.x contributor: fullname: Dhalla – volume: 190 start-page: 3959 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib767 article-title: Anti-GM-CSF autoantibodies in patients with cryptococcal meningitis publication-title: J Immunol doi: 10.4049/jimmunol.1202526 contributor: fullname: Rosen – volume: 125 start-page: 790 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib45 article-title: B-cell function in severe combined immunodeficiency after stem cell or gene therapy: a review publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2010.02.012 contributor: fullname: Buckley – volume: 18 start-page: 167 year: 2001 ident: 10.1016/j.jaci.2015.04.049_bib403 article-title: Immunoglobulin class and subclass concentrations after treatment of childhood leukemia publication-title: Pediatr Hematol Oncol doi: 10.1080/08880010151114741 contributor: fullname: Kristinsson – volume: 340 start-page: 508 year: 1999 ident: 10.1016/j.jaci.2015.04.049_bib137 article-title: Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency publication-title: N Engl J Med doi: 10.1056/NEJM199902183400703 contributor: fullname: Buckley – volume: 59 start-page: 81 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib630 article-title: CARD9 deficiency and spontaneous central nervous system candidiasis: complete clinical remission with GM-CSF therapy publication-title: Clin Infect Dis doi: 10.1093/cid/ciu215 contributor: fullname: Gavino – volume: 33 start-page: 335 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib27 article-title: Serotype-specific anti-pneumococcal IgG and immune competence: critical differences in interpretation criteria when different methods are used publication-title: J Clin Immunol doi: 10.1007/s10875-012-9806-9 contributor: fullname: Balloch – volume: 7 start-page: 13 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib209 article-title: Nijmegen breakage syndrome (NBS) publication-title: Orphanet J Rare Dis doi: 10.1186/1750-1172-7-13 contributor: fullname: Chrzanowska – volume: 141 start-page: 73 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib126 article-title: Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency publication-title: Clin Immunol doi: 10.1016/j.clim.2011.05.007 contributor: fullname: Felgentreff – volume: 23 start-page: 349 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib429 article-title: Transient hypogammaglobulinemia of infancy: intravenous immunoglobulin as first line therapy publication-title: Int J Immunopathol Pharmacol doi: 10.1177/039463201002300134 contributor: fullname: Duse – volume: 166 start-page: 1308 year: 2001 ident: 10.1016/j.jaci.2015.04.049_bib117 article-title: A deletion in the gene encoding the CD45 antigen in a patient with SCID publication-title: J Immunol doi: 10.4049/jimmunol.166.2.1308 contributor: fullname: Tchilian – volume: 29 start-page: S77 issue: suppl year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib673 article-title: Therapeutic approach to familial Mediterranean fever: a review update publication-title: Clin Exp Rheumatol contributor: fullname: Ozturk – volume: 85 start-page: 193 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib305 article-title: X-linked agammaglobulinemia: report on a United States registry of 201 patients publication-title: Medicine (Baltimore) doi: 10.1097/01.md.0000229482.27398.ad contributor: fullname: Winkelstein – volume: 80 start-page: 492 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib526 article-title: Neutrophil formylpeptide receptor single nucleotide polymorphism 348T>C in aggressive periodontitis publication-title: J Periodontol doi: 10.1902/jop.2009.080225 contributor: fullname: Maney – volume: 361 start-page: 1727 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib618 article-title: A homozygous CARD9 mutation in a family with susceptibility to fungal infections publication-title: N Engl J Med doi: 10.1056/NEJMoa0810719 contributor: fullname: Glocker – volume: 114 start-page: 211 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib446 article-title: Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients publication-title: Blood doi: 10.1182/blood-2009-02-207845 contributor: fullname: Pachlopnik Schmid – volume: 63 start-page: 1151 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib680 article-title: Role of interleukin-6 in a patient with tumor necrosis factor receptor-associated periodic syndrome: assessment of outcomes following treatment with the anti-interleukin-6 receptor monoclonal antibody tocilizumab publication-title: Arthritis Rheum doi: 10.1002/art.30215 contributor: fullname: Vaitla – volume: 45 start-page: 37 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib243 article-title: Immunologic reconstitution in 22q deletion (DiGeorge) syndrome publication-title: Immunol Res doi: 10.1007/s12026-009-8108-7 contributor: fullname: McGhee – volume: 39 start-page: 362 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib165 article-title: Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report publication-title: Int J Immunogenet doi: 10.1111/j.1744-313X.2012.01105.x contributor: fullname: Gokturk – volume: 118 start-page: 5108 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib167 article-title: Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients publication-title: Blood doi: 10.1182/blood-2011-05-352716 contributor: fullname: Ouederni – volume: 153 start-page: 17 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib298 article-title: Impact of folate therapy on combined immunodeficiency secondary to hereditary folate malabsorption publication-title: Clin Immunol doi: 10.1016/j.clim.2014.03.014 contributor: fullname: Kishimoto – volume: 76 start-page: 282 year: 1996 ident: 10.1016/j.jaci.2015.04.049_bib1 article-title: Practice parameters for the diagnosis and management of immunodeficiency. The Clinical and Laboratory Immunology Committee of the American Academy of Allergy, Asthma, and Immunology (CLIC-AAAAI) publication-title: Ann Allergy Asthma Immunol doi: 10.1016/S1081-1206(10)63442-4 contributor: fullname: Shearer – volume: 120 start-page: 1265 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib350 article-title: CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency publication-title: J Clin Invest doi: 10.1172/JCI39748 contributor: fullname: van Zelm – volume: 54 start-page: 2553 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib51 article-title: Immune globulins and same-day thrombotic events as recorded in a large health care database during 2008 to 2012 publication-title: Transfusion doi: 10.1111/trf.12663 contributor: fullname: Sridhar – volume: 119 start-page: 482 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib110 article-title: CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2006.10.007 contributor: fullname: Caudy – volume: 39 start-page: 676 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib621 article-title: An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis publication-title: Immunity doi: 10.1016/j.immuni.2013.09.002 contributor: fullname: Boisson – volume: 106 start-page: 284 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib565 article-title: Direct evidence that GM-CSF inhalation improves lung clearance in pulmonary alveolar proteinosis publication-title: Respir Med doi: 10.1016/j.rmed.2011.10.019 contributor: fullname: Ohashi – start-page: 656 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib61 article-title: Conventional therapy of primary immunodeficiency diseases contributor: fullname: Stiehm – volume: 124 start-page: 2867 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib180 article-title: Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) publication-title: Blood doi: 10.1182/blood-2014-08-591370 contributor: fullname: Chakraborty – volume: 121 start-page: 1028 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib511 article-title: Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia publication-title: Blood doi: 10.1182/blood-2012-10-461491 contributor: fullname: Hilcenko – volume: 27 start-page: 621 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib670 article-title: Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease publication-title: Annu Rev Immunol doi: 10.1146/annurev.immunol.25.022106.141627 contributor: fullname: Masters – volume: 27 start-page: 912 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib671 article-title: Erysipelas-like erythema as the presenting feature of familial Mediterranean fever publication-title: J Eur Acad Dermatol Venereol doi: 10.1111/j.1468-3083.2011.04442.x contributor: fullname: Lidar – volume: 160 start-page: 1055 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib274 article-title: A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome publication-title: J Pediatr doi: 10.1016/j.jpeds.2012.01.056 contributor: fullname: Kilic – volume: 125 start-page: S182 issue: suppl year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib8 article-title: Primary immunodeficiencies publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2009.07.053 contributor: fullname: Notarangelo – volume: 13 start-page: 513 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib564 article-title: Autoimmune pulmonary alveolar proteinosis: clinical course and diagnostic criteria publication-title: Autoimmun Rev doi: 10.1016/j.autrev.2014.01.046 contributor: fullname: Ben-Dov – volume: 8 start-page: 515 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib320 article-title: Ig beta deficiency in humans publication-title: Curr Opin Allergy Clin Immunol doi: 10.1097/ACI.0b013e328314b621 contributor: fullname: Lougaris – volume: 128 start-page: 226 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib344 article-title: Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.01.048 contributor: fullname: Fried – volume: 56 start-page: 449 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib536 article-title: Non-Aspergillus fungal infections in chronic granulomatous disease publication-title: Mycoses doi: 10.1111/myc.12049 contributor: fullname: Dotis – volume: 507 start-page: 125 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib546 article-title: Gene therapy for chronic granulomatous disease publication-title: Methods Enzymol doi: 10.1016/B978-0-12-386509-0.00007-7 contributor: fullname: Kang – volume: 60 start-page: 611 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib665 article-title: The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity publication-title: Arthritis Rheum doi: 10.1002/art.24222 contributor: fullname: Martin – volume: 168 start-page: 918 year: 2003 ident: 10.1016/j.jaci.2015.04.049_bib19 article-title: Pathophysiology and management of pulmonary infections in cystic fibrosis publication-title: Am J Respir Crit Care Med doi: 10.1164/rccm.200304-505SO contributor: fullname: Gibson – volume: 29 start-page: 190 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib538 article-title: The evaluation of dihydrorhodamine 123 assay in chronic granulomatous disease publication-title: Pediatr Infect Dis J doi: 10.1097/INF.0b013e3181c09067 contributor: fullname: Koker – volume: 25 start-page: 3816 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib26 article-title: Estimating the protective concentration of anti-pneumococcal capsular polysaccharide antibodies publication-title: Vaccine doi: 10.1016/j.vaccine.2007.01.119 contributor: fullname: Siber – volume: 39 start-page: 362 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib365 article-title: Common variable immune deficiency and lung transplantation publication-title: Scand J Infect Dis doi: 10.1080/00365540600978955 contributor: fullname: Burton – volume: 87 start-page: 253 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib325 article-title: Adults with X-linked agammaglobulinemia: impact of disease on daily lives, quality of life, educational and socioeconomic status, knowledge of inheritance, and reproductive attitudes publication-title: Medicine (Baltimore) doi: 10.1097/MD.0b013e318187ed81 contributor: fullname: Winkelstein – volume: 354 start-page: 1901 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib347 article-title: An antibody-deficiency syndrome due to mutations in the CD19 gene publication-title: N Engl J Med doi: 10.1056/NEJMoa051568 contributor: fullname: van Zelm – volume: 108 start-page: 117 year: 2001 ident: 10.1016/j.jaci.2015.04.049_bib150 article-title: Familial CD8 deficiency due to a mutation in the CD8 alpha gene publication-title: J Clin Invest doi: 10.1172/JCI10993 contributor: fullname: de la Calle-Martin – volume: 41 start-page: 586 year: 1995 ident: 10.1016/j.jaci.2015.04.049_bib754 article-title: Automated homogeneous liposome-based assay system for total complement activity publication-title: Clin Chem doi: 10.1093/clinchem/41.4.586 contributor: fullname: Yamamoto – volume: 133 start-page: 1109 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib128 article-title: Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2013.11.018 contributor: fullname: Yu – volume: 223 start-page: 320 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib133 article-title: Hematopoietic stem cell transplantation for severe combined immunodeficiency publication-title: Klin Padiatr doi: 10.1055/s-0031-1287826 contributor: fullname: Honig – volume: 134 start-page: 116 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib332 article-title: Clinical picture and treatment of 2212 patients with common variable immunodeficiency publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2013.12.1077 contributor: fullname: Gathmann – volume: 110 start-page: 5127 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib358 article-title: Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.1221211110 contributor: fullname: Wang – volume: 25 start-page: 241 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib411 article-title: Characterization of specific antibody deficiency in adults with medically refractory chronic rhinosinusitis publication-title: Am J Rhinol Allergy doi: 10.2500/ajra.2011.25.3653 contributor: fullname: Carr – volume: 111 start-page: 381 year: 2003 ident: 10.1016/j.jaci.2015.04.049_bib95 article-title: Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis publication-title: J Clin Invest doi: 10.1172/JCI16774 contributor: fullname: Moshous – volume: 159 start-page: 138 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib724 article-title: Tonsillectomy in children with periodic fever with aphthous stomatitis, pharyngitis, and adenitis syndrome publication-title: J Pediatr doi: 10.1016/j.jpeds.2010.12.014 contributor: fullname: Garavello – volume: 115 start-page: 2974 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib123 article-title: Variable phenotypic expression of mutations in genes of the immune system publication-title: J Clin Invest doi: 10.1172/JCI26956 contributor: fullname: Buckley – volume: 69 start-page: 29 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib455 article-title: Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity publication-title: Cell Mol Life Sci doi: 10.1007/s00018-011-0835-y contributor: fullname: Sieni – volume: 119 start-page: 3933 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib555 article-title: Anti-CD20 (rituximab) therapy for anti-IFN-gamma autoantibody-associated nontuberculous mycobacterial infection publication-title: Blood doi: 10.1182/blood-2011-12-395707 contributor: fullname: Browne – volume: 50 start-page: 324 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib302 article-title: Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia publication-title: J Med Genet doi: 10.1136/jmedgenet-2012-101483 contributor: fullname: Samuels – volume: 129 start-page: 794 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib416 article-title: Pneumococcal polysaccharide vaccine at 12 months of age produces functional immune responses publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.11.043 contributor: fullname: Licciardi – volume: 28 start-page: 4837 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib595 article-title: A quadrivalent HPV vaccine induces humoral and cellular immune responses in WHIM immunodeficiency syndrome publication-title: Vaccine doi: 10.1016/j.vaccine.2010.04.057 contributor: fullname: Handisurya – volume: 43 start-page: 197 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib744 article-title: Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome publication-title: Nat Genet doi: 10.1038/ng.757 contributor: fullname: Rooryck – volume: 13 start-page: 615 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib654 article-title: Canakinumab in pediatric rheumatic diseases publication-title: Expert Opin Biol Ther doi: 10.1517/14712598.2013.778239 contributor: fullname: Wulffraat – volume: 105 start-page: 4179 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib94 article-title: Omenn syndrome due to ARTEMIS mutations publication-title: Blood doi: 10.1182/blood-2004-12-4861 contributor: fullname: Ege – volume: 54 start-page: 563 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib444 article-title: Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations publication-title: Pediatr Blood Cancer doi: 10.1002/pbc.22357 contributor: fullname: Meeths – volume: 122 start-page: 1169 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib577 article-title: Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2008.08.018 contributor: fullname: Hanson – volume: 124 start-page: 5516 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib700 article-title: Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations publication-title: J Clin Invest doi: 10.1172/JCI79100 contributor: fullname: Jeremiah – volume: 131 start-page: e629 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib299 article-title: Severe combined immunodeficiency resulting from mutations in MTHFD1 publication-title: Pediatrics doi: 10.1542/peds.2012-0899 contributor: fullname: Keller – volume: 131 start-page: 959 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib148 article-title: B-cell biology and development publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2013.01.046 contributor: fullname: Pieper – volume: 122 start-page: 1113 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib582 article-title: Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2008.08.026 contributor: fullname: Pai – volume: 2012 start-page: 353250 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib477 article-title: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation publication-title: Int J Endocrinol doi: 10.1155/2012/353250 contributor: fullname: Capalbo – volume: 119 start-page: 3458 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib606 article-title: MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival publication-title: Blood doi: 10.1182/blood-2011-09-378364 contributor: fullname: Nehme – volume: 121 start-page: 4889 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib613 article-title: Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency publication-title: J Clin Invest doi: 10.1172/JCI59259 contributor: fullname: Sancho-Shimizu – volume: 81 start-page: 470 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib293 article-title: Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood publication-title: Clin Genet doi: 10.1111/j.1399-0004.2011.01658.x contributor: fullname: Sasa – volume: 112 start-page: 4090 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib108 article-title: Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency publication-title: Blood doi: 10.1182/blood-2008-04-153361 contributor: fullname: Speckmann – volume: 10 start-page: 320 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib561 article-title: Immune dysregulation in the pathogenesis of pulmonary alveolar proteinosis publication-title: Curr Allergy Asthma Rep doi: 10.1007/s11882-010-0134-y contributor: fullname: Martinez-Moczygemba – volume: 278 start-page: 2001 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib160 article-title: TEC family kinases in health and disease—loss-of-function of BTK and ITK and the gain-of-function fusions ITK-SYK and BTK-SYK publication-title: FEBS J doi: 10.1111/j.1742-4658.2011.08134.x contributor: fullname: Hussain – volume: 115 start-page: 3708 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib245 article-title: Idiopathic CD4+ T-cell lymphocytopenia is associated with impaired membrane expression of the chemokine receptor CXCR4 publication-title: Blood doi: 10.1182/blood-2009-02-202796 contributor: fullname: Scott-Algara – volume: 15 start-page: E80 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib168 article-title: MHC class II deficiency cured by unrelated mismatched umbilical cord blood transplantation: case report and review of 68 cases in the literature publication-title: Pediatr Transplant doi: 10.1111/j.1399-3046.2010.01292.x contributor: fullname: Siepermann – volume: 172 start-page: 63 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib374 article-title: Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): a survey of 45 patients publication-title: Clin Exp Immunol doi: 10.1111/cei.12039 contributor: fullname: Wong – volume: 56 start-page: 3805 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib664 article-title: NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort publication-title: Arthritis Rheum doi: 10.1002/art.22966 contributor: fullname: Arostegui – volume: 121 start-page: 976 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib574 article-title: IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2007.11.014 contributor: fullname: Salt – volume: 20 start-page: R970 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib122 article-title: Estimating human age from T-cell DNA rearrangements publication-title: Curr Biol doi: 10.1016/j.cub.2010.10.022 contributor: fullname: Zubakov – volume: 32 start-page: 961 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib380 article-title: Selective IgA deficiency: clinical and laboratory features of 118 children in Turkey publication-title: J Clin Immunol doi: 10.1007/s10875-012-9702-3 contributor: fullname: Aytekin – volume: 24 start-page: 538 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib451 article-title: Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype publication-title: Platelets doi: 10.3109/09537104.2012.741275 contributor: fullname: Kurnik – volume: 360 start-page: 2637 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib746 article-title: Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency publication-title: N Engl J Med doi: 10.1056/NEJMoa0900381 contributor: fullname: Munthe-Fog – volume: 123 start-page: 4781 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib321 article-title: A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells publication-title: J Clin Invest doi: 10.1172/JCI71927 contributor: fullname: Boisson – volume: 119 start-page: 1650 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib364 article-title: Morbidity and mortality in common variable immune deficiency over 4 decades publication-title: Blood doi: 10.1182/blood-2011-09-377945 contributor: fullname: Resnick – volume: 28 start-page: 263 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib669 article-title: A practical approach to the diagnosis of autoinflammatory diseases in childhood publication-title: Best Pract Res Clin Rheumatol doi: 10.1016/j.berh.2014.05.005 contributor: fullname: Federici – volume: 120 start-page: e1341 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib222 article-title: Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome publication-title: Pediatrics doi: 10.1542/peds.2007-0640 contributor: fullname: Gennery – volume: 14 start-page: 7 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib528 article-title: Identification of novel mutation in cathepsin C gene causing Papillon-Lefevre syndrome in Mexican patients publication-title: BMC Med Genet doi: 10.1186/1471-2350-14-7 contributor: fullname: Romero-Quintana – volume: 3 start-page: e289 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib765 article-title: Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1 publication-title: PLoS Med doi: 10.1371/journal.pmed.0030289 contributor: fullname: Meager – volume: 90 start-page: 986 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib357 article-title: Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2012.04.015 contributor: fullname: Lopez-Herrera – volume: 122 start-page: 1082 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib125 article-title: Omenn syndrome: inflammation in leaky severe combined immunodeficiency publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2008.09.037 contributor: fullname: Villa – volume: 46 start-page: 120 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib184 article-title: The hyper IgM syndromes publication-title: Clin Rev Allergy Immunol doi: 10.1007/s12016-013-8378-7 contributor: fullname: Qamar – volume: 29 start-page: 2032 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib211 article-title: DNA ligase I deficiency leads to replication-dependent DNA damage and impacts cell morphology without blocking cell cycle progression publication-title: Mol Cell Biol doi: 10.1128/MCB.01730-08 contributor: fullname: Soza – volume: 371 start-page: 507 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib701 article-title: Activated STING in a vascular and pulmonary syndrome publication-title: N Engl J Med doi: 10.1056/NEJMoa1312625 contributor: fullname: Liu – volume: 41 start-page: 265 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib675 article-title: Interleukin-1 targeting drugs in familial Mediterranean fever: a case series and a review of the literature publication-title: Semin Arthritis Rheum doi: 10.1016/j.semarthrit.2010.11.003 contributor: fullname: Meinzer – volume: 125 start-page: S103 issue: suppl year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib18 article-title: Rhinitis and sinusitis publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2009.12.989 contributor: fullname: Dykewicz – volume: 32 start-page: 698 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib267 article-title: Additional diverse findings expand the clinical presentation of DOCK8 deficiency publication-title: J Clin Immunol doi: 10.1007/s10875-012-9664-5 contributor: fullname: Sanal – volume: 23 start-page: 964 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib443 article-title: Griscelli syndrome type 2: a rare and lethal disorder publication-title: J Child Neurol doi: 10.1177/0883073808315409 contributor: fullname: Masri – volume: 50 start-page: 366 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib467 article-title: Rituximab for lymphoproliferative disease prior to haematopoietic stem cell transplantation for X-linked severe combined immunodeficiency publication-title: Pediatr Blood Cancer doi: 10.1002/pbc.20887 contributor: fullname: Trahair – volume: 121 start-page: 129 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib751 article-title: CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy publication-title: Blood doi: 10.1182/blood-2012-07-441857 contributor: fullname: Nevo – volume: 16 start-page: 244 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib692 article-title: Clinical efficacy of etanercept for treatment of PAPA syndrome publication-title: J Clin Rheumatol doi: 10.1097/RHU.0b013e3181e969b9 contributor: fullname: Tofteland – volume: 158 start-page: 701 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib177 article-title: STAT5b deficiency: an unsuspected cause of growth failure, immunodeficiency, and severe pulmonary disease publication-title: J Pediatr doi: 10.1016/j.jpeds.2010.12.042 contributor: fullname: Nadeau – volume: 58 start-page: 591 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib157 article-title: Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the Ikaros gene publication-title: Pediatr Blood Cancer doi: 10.1002/pbc.23160 contributor: fullname: Goldman – volume: 37 start-page: 461 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib297 article-title: Update on transcobalamin deficiency: clinical presentation, treatment and outcome publication-title: J Inherit Metab Dis doi: 10.1007/s10545-013-9664-5 contributor: fullname: Trakadis – volume: 110 start-page: 3053 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib608 article-title: STAT2 deficiency and susceptibility to viral illness in humans publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.1220098110 contributor: fullname: Hambleton – volume: 512 start-page: 189 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib181 article-title: Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder publication-title: Gene doi: 10.1016/j.gene.2012.10.062 contributor: fullname: Karaca – volume: 87 start-page: 637 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib459 article-title: Reduced-intensity conditioning in unrelated donor cord blood transplantation for familial hemophagocytic lymphohistiocytosis publication-title: Am J Hematol doi: 10.1002/ajh.23190 contributor: fullname: Nishi – volume: 5 start-page: 18 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib480 article-title: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy publication-title: J Clin Aesthet Dermatol contributor: fullname: Sonal – volume: 153 start-page: 75 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib124 article-title: Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome publication-title: Clin Exp Immunol doi: 10.1111/j.1365-2249.2008.03681.x contributor: fullname: Gennery – volume: 475 start-page: 471 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib143 article-title: Second messenger role for Mg2+ revealed by human T-cell immunodeficiency publication-title: Nature doi: 10.1038/nature10246 contributor: fullname: Li – volume: 13 start-page: 1178 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib586 article-title: Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency publication-title: Nat Immunol doi: 10.1038/ni.2457 contributor: fullname: Boisson – volume: 3 start-page: 97ra80 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib135 article-title: Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction publication-title: Sci Transl Med doi: 10.1126/scitranslmed.3002716 contributor: fullname: Gaspar – volume: 15 start-page: 733 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib115 article-title: Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID publication-title: Pediatr Transplant doi: 10.1111/j.1399-3046.2011.01563.x contributor: fullname: Yu – volume: 58 start-page: 1116 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib755 article-title: Familial clustering of non-nuclear autoantibodies and C3 and C4 complement components in systemic lupus erythematosus publication-title: Arthritis Rheum doi: 10.1002/art.23400 contributor: fullname: Hunnangkul – volume: 130 start-page: 1428 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib356 article-title: LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2012.07.035 contributor: fullname: Burns – volume: 125 start-page: S297 issue: suppl year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib21 article-title: Laboratory evaluation of primary immunodeficiencies publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2009.08.043 contributor: fullname: Oliveira – volume: 209 start-page: 2247 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib146 article-title: Congenital B cell lymphocytosis explained by novel germline CARD11 mutations publication-title: J Exp Med doi: 10.1084/jem.20120831 contributor: fullname: Snow – volume: 129 start-page: 787 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib149 article-title: CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2011.11.013 contributor: fullname: van Montfrans – volume: 5 start-page: 162 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib3 article-title: Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency publication-title: Front Immunol contributor: fullname: Al-Herz – volume: 113 start-page: 585 year: 2004 ident: 10.1016/j.jaci.2015.04.049_bib732 article-title: Clinical and laboratory evaluation of complement deficiency publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2004.02.003 contributor: fullname: Wen – volume: 122 start-page: 814 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib641 article-title: MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans publication-title: J Clin Invest doi: 10.1172/JCI60224 contributor: fullname: Hughes – volume: 112 start-page: e325 year: 2003 ident: 10.1016/j.jaci.2015.04.049_bib80 article-title: Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) publication-title: Pediatrics doi: 10.1542/peds.112.4.e325 contributor: fullname: Perez – volume: 15 start-page: 84 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib200 article-title: Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment publication-title: Biol Blood Marrow Transplant doi: 10.1016/j.bbmt.2008.10.007 contributor: fullname: Ochs – volume: 345 start-page: 1623 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib151 article-title: Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4 publication-title: Science doi: 10.1126/science.1255904 contributor: fullname: Kuehn – volume: 114 start-page: 912 year: 2006 ident: 10.1016/j.jaci.2015.04.049_bib662 article-title: Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation publication-title: APMIS doi: 10.1111/j.1600-0463.2006.apm_522.x contributor: fullname: Milman – volume: 361 start-page: 2033 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib719 article-title: Inflammatory bowel disease and mutations affecting the interleukin-10 receptor publication-title: N Engl J Med doi: 10.1056/NEJMoa0907206 contributor: fullname: Glocker – volume: 80 start-page: 405 year: 2001 ident: 10.1016/j.jaci.2015.04.049_bib169 article-title: MHC class II deficiency: a disease of gene regulation publication-title: Medicine (Baltimore) doi: 10.1097/00005792-200111000-00006 contributor: fullname: Villard – volume: 3 start-page: S184 issue: suppl year: 1981 ident: 10.1016/j.jaci.2015.04.049_bib24 article-title: Assessment of the antibody response to pneumococcal vaccine in high-risk populations publication-title: Rev Infect Dis doi: 10.1093/clinids/3.Supplement_1.S184 contributor: fullname: Landesman – volume: 12 start-page: 602 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib381 article-title: IgA deficiency: what is new? publication-title: Curr Opin Allergy Clin Immunol doi: 10.1097/ACI.0b013e3283594219 contributor: fullname: Wang – volume: 73 start-page: 172 year: 2000 ident: 10.1016/j.jaci.2015.04.049_bib53 article-title: Catheter fracture and cardiac migration: a rare complication of totally implantable venous devices publication-title: J Surg Oncol doi: 10.1002/(SICI)1096-9098(200003)73:3<172::AID-JSO11>3.0.CO;2-Z contributor: fullname: di Carlo – volume: 74 start-page: 261 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib339 article-title: Flowcytometric phenotyping of common variable immunodeficiency publication-title: Cytometry B Clin Cytom doi: 10.1002/cyto.b.20432 contributor: fullname: Warnatz – volume: 362 start-page: 314 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib78 article-title: Vaccine-acquired rotavirus in infants with severe combined immunodeficiency publication-title: N Engl J Med doi: 10.1056/NEJMoa0904485 contributor: fullname: Patel – volume: 41 start-page: e94 year: 2004 ident: 10.1016/j.jaci.2015.04.049_bib240 article-title: SEMA3E mutation in a patient with CHARGE syndrome publication-title: J Med Genet doi: 10.1136/jmg.2003.017640 contributor: fullname: Lalani – volume: 133 start-page: 78 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib384 article-title: Selective IgA deficiency in early life: association to infections and allergic diseases during childhood publication-title: Clin Immunol doi: 10.1016/j.clim.2009.05.014 contributor: fullname: Janzi – volume: 23 start-page: 411 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib660 article-title: Blau syndrome revisited publication-title: Curr Opin Rheumatol doi: 10.1097/BOR.0b013e328349c430 contributor: fullname: Rose – volume: 120 start-page: 908 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib242 article-title: Long-term results of bone marrow transplantation in complete DiGeorge syndrome publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2007.08.048 contributor: fullname: Land – volume: 124 start-page: 536 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib257 article-title: Comel-Netherton syndrome defined as primary immunodeficiency publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2009.06.009 contributor: fullname: Renner – volume: 162 start-page: 844 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib251 article-title: Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation publication-title: J Pediatr doi: 10.1016/j.jpeds.2012.09.050 contributor: fullname: Taskinen – volume: 317 start-page: 1522 year: 2007 ident: 10.1016/j.jaci.2015.04.049_bib614 article-title: TLR3 deficiency in patients with herpes simplex encephalitis publication-title: Science doi: 10.1126/science.1139522 contributor: fullname: Zhang – volume: 88 start-page: 1035 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib50 article-title: Hyperimmune globulins and same-day thrombotic adverse events as recorded in a large healthcare database during 2008-2011 publication-title: Am J Hematol doi: 10.1002/ajh.23559 contributor: fullname: Menis – volume: 29 start-page: 861 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib575 article-title: A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency publication-title: Hum Mutat doi: 10.1002/humu.20740 contributor: fullname: Lopez-Granados – volume: 161 start-page: 330 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib507 article-title: Advances in the understanding of Barth syndrome publication-title: Br J Haematol doi: 10.1111/bjh.12271 contributor: fullname: Aprikyan – volume: 29 start-page: 177 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib524 article-title: Rac GTPases in human diseases publication-title: Dis Markers doi: 10.1155/2010/380291 contributor: fullname: Pai – volume: 155 start-page: 498 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib373 article-title: Efficacy and safety of rituximab in common variable immunodeficiency-associated immune cytopenias: a retrospective multicentre study on 33 patients publication-title: Br J Haematol doi: 10.1111/j.1365-2141.2011.08880.x contributor: fullname: Gobert – volume: 203 start-page: 216 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib316 article-title: Genetic analysis of patients with defects in early B-cell development publication-title: Immunol Rev doi: 10.1111/j.0105-2896.2005.00233.x contributor: fullname: Conley – volume: 146 start-page: 1028 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib300 article-title: Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease publication-title: Gastroenterology doi: 10.1053/j.gastro.2014.01.015 contributor: fullname: Avitzur – volume: 129 start-page: 1175 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib463 article-title: CD27: a new player in the field of common variable immunodeficiency and EBV-associated lymphoproliferative disorder? publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2012.01.053 contributor: fullname: Seidel – volume: 132 start-page: 124 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib578 article-title: Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome publication-title: Clin Immunol doi: 10.1016/j.clim.2009.03.514 contributor: fullname: Cheng – start-page: 1 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib11 article-title: An introduction to primary immunodeficiency diseases contributor: fullname: Rezaei – volume: 16 start-page: E210 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib368 article-title: Liver transplantation for severe hepatitis in patients with common variable immunodeficiency publication-title: Pediatr Transplant doi: 10.1111/j.1399-3046.2011.01545.x contributor: fullname: Murakawa – volume: 28 start-page: S62 issue: suppl 1 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib433 article-title: Autoimmunity in hyper-IgM syndrome publication-title: J Clin Immunol doi: 10.1007/s10875-008-9171-x contributor: fullname: Jesus – volume: 9 start-page: 391 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib652 article-title: Targeting inflammasomes in rheumatic diseases publication-title: Nat Rev Rheumatol doi: 10.1038/nrrheum.2013.61 contributor: fullname: So – volume: 49 start-page: 1329 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib379 article-title: Late-onset combined immune deficiency: a subset of common variable immunodeficiency with severe T cell defect publication-title: Clin Infect Dis doi: 10.1086/606059 contributor: fullname: Malphettes – volume: 33 start-page: 857 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib539 article-title: Rapid detection of intracellular p47phox and p67phox by flow cytometry; useful screening tests for chronic granulomatous disease publication-title: J Clin Immunol doi: 10.1007/s10875-012-9859-9 contributor: fullname: Wada – volume: 131 start-page: 477 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib147 article-title: Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2012.11.050 contributor: fullname: Stepensky – volume: 131 start-page: 179 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib131 article-title: Optimizing outcomes of hematopoietic stem cell transplantation for severe combined immunodeficiency publication-title: Clin Immunol doi: 10.1016/j.clim.2009.01.003 contributor: fullname: Cuvelier – volume: 369 start-page: 1704 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib625 article-title: Deep dermatophytosis and inherited CARD9 deficiency publication-title: N Engl J Med doi: 10.1056/NEJMoa1208487 contributor: fullname: Lanternier – volume: 131 start-page: 1001 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib418 article-title: Controversies in IgG replacement therapy in patients with antibody deficiency diseases publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2013.02.028 contributor: fullname: Gelfand – volume: 32 start-page: 1404 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib309 article-title: Successful approach to treatment of Helicobacter bilis infection in X-linked agammaglobulinemia publication-title: J Clin Immunol doi: 10.1007/s10875-012-9750-8 contributor: fullname: Turvey – volume: 29 start-page: 372 year: 2008 ident: 10.1016/j.jaci.2015.04.049_bib63 article-title: Pediatric chronic rhinosinusitis: a retrospective review publication-title: Am J Otolaryngol doi: 10.1016/j.amjoto.2007.11.003 contributor: fullname: Criddle – volume: 3 start-page: 30 year: 2012 ident: 10.1016/j.jaci.2015.04.049_bib509 article-title: Two novel COH1 mutations in an Italian Patient with Cohen syndrome publication-title: Mol Syndromol doi: 10.1159/000338816 contributor: fullname: Athanasakis – volume: 34 start-page: 208 year: 2002 ident: 10.1016/j.jaci.2015.04.049_bib627 article-title: Natural killer (NK) cells in mucocutaneous candidiasis publication-title: Allerg Immunol (Paris) contributor: fullname: Palma-Carlos – volume: 34 start-page: 272 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib352 article-title: Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility publication-title: J Clin Immunol doi: 10.1007/s10875-014-0012-9 contributor: fullname: Crank – volume: 43 start-page: 217 year: 2009 ident: 10.1016/j.jaci.2015.04.049_bib580 article-title: Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency publication-title: Bone Marrow Transplant doi: 10.1038/bmt.2008.308 contributor: fullname: Fish – volume: 33 start-page: 14 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib600 article-title: EVER2 Deficiency is associated with mild T-cell abnormalities publication-title: J Clin Immunol doi: 10.1007/s10875-012-9749-1 contributor: fullname: Crequer – volume: 340 start-page: 976 year: 2013 ident: 10.1016/j.jaci.2015.04.049_bib644 article-title: Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia publication-title: Science doi: 10.1126/science.1234864 contributor: fullname: Bolze – volume: 95 start-page: E58 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib697 article-title: An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy publication-title: J Clin Endocrinol Metab doi: 10.1210/jc.2010-0488 contributor: fullname: Garg – volume: 12 start-page: 22 year: 2005 ident: 10.1016/j.jaci.2015.04.049_bib643 article-title: Autosomal-dominant primary immunodeficiencies publication-title: Curr Opin Hematol doi: 10.1097/01.moh.0000149609.37309.0a contributor: fullname: Lawrence – volume: 46 start-page: 812 year: 2014 ident: 10.1016/j.jaci.2015.04.049_bib472 article-title: Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease publication-title: Nat Genet doi: 10.1038/ng.3040 contributor: fullname: Flanagan – volume: 23 start-page: 1275 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib376 article-title: Is hypogammaglobulinemia a constant feature in Good's syndrome? publication-title: Int J Immunopathol Pharmacol doi: 10.1177/039463201002300434 contributor: fullname: Federico – start-page: CD008669 issue: 9 year: 2010 ident: 10.1016/j.jaci.2015.04.049_bib725 article-title: Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA) publication-title: Cochrane Database Syst Rev contributor: fullname: Burton – volume: 96 start-page: 472 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib162 article-title: IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach publication-title: Haematologica doi: 10.3324/haematol.2010.033910 contributor: fullname: Stepensky – volume: 20 start-page: 271 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib758 article-title: Complement and glomerular disease: new insights publication-title: Curr Opin Nephrol Hypertens doi: 10.1097/MNH.0b013e328345848b contributor: fullname: Pickering – volume: 18 start-page: 157 year: 1999 ident: 10.1016/j.jaci.2015.04.049_bib395 article-title: Evaluating children with respiratory tract infections: the role of immunization with bacterial polysaccharide vaccine publication-title: Pediatr Infect Dis J doi: 10.1097/00006454-199902000-00016 contributor: fullname: Wasserman – volume: 118 start-page: 2653 year: 2011 ident: 10.1016/j.jaci.2015.04.049_bib563 article-title: Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome publication-title: Blood doi: 10.1182/blood-2011-05-356352 contributor: fullname: Hsu |
SSID | ssj0009389 |
Score | 2.6786344 |
Snippet | The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted... The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted... |
SourceID | proquest crossref pubmed elsevier |
SourceType | Aggregation Database Index Database Publisher |
StartPage | 1186 |
SubjectTerms | Advisory Committees Allergies Allergy and Immunology Animals Clinical Trials as Topic Conflicts of interest Disease Management Evidence-Based Medicine Humans Immunologic Deficiency Syndromes - diagnosis Immunologic Deficiency Syndromes - therapy Laboratories Physicians Teenagers |
Title | Practice parameter for the diagnosis and management of primary immunodeficiency |
URI | https://www.clinicalkey.es/playcontent/1-s2.0-S0091674915008830 https://dx.doi.org/10.1016/j.jaci.2015.04.049 https://www.ncbi.nlm.nih.gov/pubmed/26371839 https://www.proquest.com/docview/1731779797 https://search.proquest.com/docview/1732307594 https://search.proquest.com/docview/1735923265 |
Volume | 136 |
hasFullText | 1 |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3fT9swED4BlRAv09jYCD8qI_GGMhLHduJHhFaVTQMehtQ3y3EcKUhNq7V95W_nrnGKpjEeUPKSxJats-_us-67C8B5YjnPKyliJbmIRZ0lMTphFRfO17XzmkI_xLa4VeMH8WMiJ1tw3efCEK0y2P7Opq-tdXhzGaR5OW8ayvHVRKHXCGlQVTI8tw_QHVGsdnB183N8-1J7Nys6FKzTmDqE3JmO5vVoXUMML7mueEolNV_3T__Dn2s_NPoIHwKAZFfdHPdhy7efYPdXCJF_hrv7kPfEqKr3lNguDIEpQ6DHqo5X1yyYbSs23TBf2Kxm867sBGsoYWRWeaosQWmZB_Aw-v77ehyHvybELud8GfNSKS2UKJyj2kK-ltYhjLAytRwdkVMlHulwHTKfVjrJykr4msKfpS4c1TnKvsBOO2v9IbBCcqfoAFWg1uZJYW2lLHq9PKnLKhFZBBe9rEyYpelZY4-GJGtIsiYReOsI8l6cpk_7REPlF0FrFiY1C24S88_KRiA3Pf_aHAbt_psjnvSrZl4GyREy5RqvCM42n1GpKFJiWz9brdsQQV5q8WYbieiYKxnB125HbITAVZYT9Dx658SPYY-eupzHE9hZ_ln5UwQ_y3II29-e0mHY4s-E1wAY |
link.rule.ids | 314,780,784,4502,24116,27924,27925,45585,45679 |
linkProvider | Elsevier |
linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LT9wwEB4hKlEuVXkUArQ1EjeUknVsJz4iVLQtz8MicbMcx5Gy0mZX3eXa396ZxNkVgnJAySl2FGs8j8-abyYAJ4nlPCuliJXkIhZVmsQYhFWcO19VzmtK_RDb4lYNH8TvR_m4Bhd9LQzRKoPv73x6663Dk7MgzbNZXVONryYKvUZIg6aS4rn9g5CIflGpf_xd8Tx0mncYWA9imh4qZzqS19i6mvhdsu13Sg01X49O_0OfbRS6_AyfAnxk590Kt2DNN9uwcRMS5Dtwdx-qnhj19J4Q14UhLGUI81jZserqObNNySZL3gubVmzWNZ1gNZWLTEtPfSWoKHMXHi5_ji6GcfhnQuwyzhcxL5TSQoncOeos5CtpHYIIKweWYxhyqsADHe5C6gelTtKiFL6i5Gehc0ddjtIvsN5MG78PLJfcKTo-5WizWZJbWyqLMS9LqqJMRBrBaS8rE1Zpes7Y2JBkDUnWJAJvHUHWi9P0RZ_opvw82MzcDMycm8S82NcI5PLNZ6ph0Ou_-cWjftfM6iMZAqZM4xXB8XIYTYryJLbx06d2DtHjpRZvzpGIjbmSEex1GrEUAldpRsDz4J0L_w4fh6Oba3P96_bqEDZppKt-PIL1xZ8n_xVh0KL41qr5P9UGAPE |
openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Practice+parameter+for+the+diagnosis+and+management+of+primary+immunodeficiency&rft.jtitle=Journal+of+allergy+and+clinical+immunology&rft.au=Bonilla%2C+Francisco+A.&rft.au=Khan%2C+David+A.&rft.au=Ballas%2C+Zuhair+K.&rft.au=Chinen%2C+Javier&rft.date=2015-11-01&rft.issn=0091-6749&rft.volume=136&rft.issue=5&rft.spage=1186&rft.epage=1205.e78&rft_id=info:doi/10.1016%2Fj.jaci.2015.04.049&rft.externalDBID=n%2Fa&rft.externalDocID=10_1016_j_jaci_2015_04_049 |
thumbnail_m | http://utb.summon.serialssolutions.com/2.0.0/image/custom?url=https%3A%2F%2Fcdn.clinicalkey.com%2Fck-thumbnails%2F00916749%2FS0091674914X00138%2Fcov150h.gif |