Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation
Pyrin responds to pathogen signals and loss of cellular homeostasis by forming an inflammasome complex that drives the cleavage and secretion of interleukin-1β (IL-1β). Mutations in the B30.2/SPRY domain cause pathogen-independent activation of pyrin and are responsible for the autoinflammatory dise...
Saved in:
Published in | Science translational medicine Vol. 8; no. 332; p. 332ra45 |
---|---|
Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
United States
30.03.2016
|
Subjects | |
Online Access | Get more information |
Cover
Loading…
Abstract | Pyrin responds to pathogen signals and loss of cellular homeostasis by forming an inflammasome complex that drives the cleavage and secretion of interleukin-1β (IL-1β). Mutations in the B30.2/SPRY domain cause pathogen-independent activation of pyrin and are responsible for the autoinflammatory disease familial Mediterranean fever (FMF). We studied a family with a dominantly inherited autoinflammatory disease, distinct from FMF, characterized by childhood-onset recurrent episodes of neutrophilic dermatosis, fever, elevated acute-phase reactants, arthralgia, and myalgia/myositis. The disease was caused by a mutation in MEFV, the gene encoding pyrin (S242R). The mutation results in the loss of a 14-3-3 binding motif at phosphorylated S242, which was not perturbed by FMF mutations in the B30.2/SPRY domain. However, loss of both S242 phosphorylation and 14-3-3 binding was observed for bacterial effectors that activate the pyrin inflammasome, such as Clostridium difficile toxin B (TcdB). The S242R mutation thus recapitulated the effect of pathogen sensing, triggering inflammasome activation and IL-1β production. Successful therapy targeting IL-1β has been initiated in one patient, resolving pyrin-associated autoinflammation with neutrophilic dermatosis. This disease provides evidence that a guard-like mechanism of pyrin regulation, originally identified for Nod-like receptors in plant innate immunity, also exists in humans. |
---|---|
AbstractList | Pyrin responds to pathogen signals and loss of cellular homeostasis by forming an inflammasome complex that drives the cleavage and secretion of interleukin-1β (IL-1β). Mutations in the B30.2/SPRY domain cause pathogen-independent activation of pyrin and are responsible for the autoinflammatory disease familial Mediterranean fever (FMF). We studied a family with a dominantly inherited autoinflammatory disease, distinct from FMF, characterized by childhood-onset recurrent episodes of neutrophilic dermatosis, fever, elevated acute-phase reactants, arthralgia, and myalgia/myositis. The disease was caused by a mutation in MEFV, the gene encoding pyrin (S242R). The mutation results in the loss of a 14-3-3 binding motif at phosphorylated S242, which was not perturbed by FMF mutations in the B30.2/SPRY domain. However, loss of both S242 phosphorylation and 14-3-3 binding was observed for bacterial effectors that activate the pyrin inflammasome, such as Clostridium difficile toxin B (TcdB). The S242R mutation thus recapitulated the effect of pathogen sensing, triggering inflammasome activation and IL-1β production. Successful therapy targeting IL-1β has been initiated in one patient, resolving pyrin-associated autoinflammation with neutrophilic dermatosis. This disease provides evidence that a guard-like mechanism of pyrin regulation, originally identified for Nod-like receptors in plant innate immunity, also exists in humans. |
Author | De Nardo, Dominic Masters, Seth L Moghaddas, Fiona Sciot, Raf Jéru, Isabelle Copin, Bruno Ruuth-Praz, Julia Lyras, Dena De Somer, Lien Jeandel, Pierre-Yves Medlej-Hashim, Myrna Schroder, Kate Cochet, Emmanuelle Webb, Andrew I Liston, Adrian Lawless, Dylan Parry, David A Amselem, Serge Dooley, James Megarbane, Andre van Nieuwenhove, Erika Nicholson, Sandra E Garcia-Perez, Josselyn E Wouters, Carine Goris, An Dagley, Laura F Pasciuto, Emanuela Savic, Sinisa Baker, Paul J Van Eyck, Lien Holley, Caroline L Lagou, Vasiliki |
Author_xml | – sequence: 1 givenname: Seth L surname: Masters fullname: Masters, Seth L email: masters@wehi.edu.au, carine.wouters@uzleuven.be, adrian.liston@vib.be organization: Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia. Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia. masters@wehi.edu.au carine.wouters@uzleuven.be adrian.liston@vib.be – sequence: 2 givenname: Vasiliki surname: Lagou fullname: Lagou, Vasiliki organization: Department of Neurosciences, KU Leuven, Leuven 3000, Belgium. Department of Microbiology and Immunology, KU Leuven, Leuven 3000, Belgium. Translational Immunology Laboratory, VIB, Leuven 3000, Belgium – sequence: 3 givenname: Isabelle surname: Jéru fullname: Jéru, Isabelle organization: INSERM, UMR S933, Paris F-75012, France. Université Pierre et Marie Curie-Paris, UMR S933, Paris F-75012, France. Assistance Publique Hôpitaux de Paris, Hôpital Trousseau, Service de Génétique et d'Embryologie médicales, Paris F-75012, France – sequence: 4 givenname: Paul J surname: Baker fullname: Baker, Paul J organization: Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia. Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia – sequence: 5 givenname: Lien surname: Van Eyck fullname: Van Eyck, Lien organization: Department of Microbiology and Immunology, KU Leuven, Leuven 3000, Belgium. Translational Immunology Laboratory, VIB, Leuven 3000, Belgium – sequence: 6 givenname: David A surname: Parry fullname: Parry, David A organization: Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh LS7 4SA, UK – sequence: 7 givenname: Dylan surname: Lawless fullname: Lawless, Dylan organization: Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Wellcome Trust Brenner Building, Saint James's University Hospital, Leeds LS7 4SA, UK – sequence: 8 givenname: Dominic surname: De Nardo fullname: De Nardo, Dominic organization: Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia. Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia – sequence: 9 givenname: Josselyn E surname: Garcia-Perez fullname: Garcia-Perez, Josselyn E organization: Department of Microbiology and Immunology, KU Leuven, Leuven 3000, Belgium. Translational Immunology Laboratory, VIB, Leuven 3000, Belgium – sequence: 10 givenname: Laura F surname: Dagley fullname: Dagley, Laura F organization: Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia. Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia. Systems Biology and Personalised Medicine Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia – sequence: 11 givenname: Caroline L surname: Holley fullname: Holley, Caroline L organization: Institute for Molecular Bioscience (IMB) and IMB Centre for Inflammation and Disease Research, The University of Queensland, Brisbane, Queensland 4072, Australia – sequence: 12 givenname: James surname: Dooley fullname: Dooley, James organization: Department of Microbiology and Immunology, KU Leuven, Leuven 3000, Belgium. Translational Immunology Laboratory, VIB, Leuven 3000, Belgium – sequence: 13 givenname: Fiona surname: Moghaddas fullname: Moghaddas, Fiona organization: Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia. Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia – sequence: 14 givenname: Emanuela surname: Pasciuto fullname: Pasciuto, Emanuela organization: Department of Microbiology and Immunology, KU Leuven, Leuven 3000, Belgium. Translational Immunology Laboratory, VIB, Leuven 3000, Belgium – sequence: 15 givenname: Pierre-Yves surname: Jeandel fullname: Jeandel, Pierre-Yves organization: Département de Médecine Interne, Hôpital Archet 1, Université Nice Sophia-Antipolis, 06202 Nice, France – sequence: 16 givenname: Raf surname: Sciot fullname: Sciot, Raf organization: Department of Pathology, KU Leuven, Leuven 3000, Belgium. University Hospitals Leuven, Leuven 3000, Belgium – sequence: 17 givenname: Dena surname: Lyras fullname: Lyras, Dena organization: Department of Microbiology, Monash University, Melbourne, Victoria 3800, Australia – sequence: 18 givenname: Andrew I surname: Webb fullname: Webb, Andrew I organization: Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia. Systems Biology and Personalised Medicine Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia – sequence: 19 givenname: Sandra E surname: Nicholson fullname: Nicholson, Sandra E organization: Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia. Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia – sequence: 20 givenname: Lien surname: De Somer fullname: De Somer, Lien organization: University Hospitals Leuven, Leuven 3000, Belgium – sequence: 21 givenname: Erika surname: van Nieuwenhove fullname: van Nieuwenhove, Erika organization: Department of Microbiology and Immunology, KU Leuven, Leuven 3000, Belgium. Translational Immunology Laboratory, VIB, Leuven 3000, Belgium. University Hospitals Leuven, Leuven 3000, Belgium – sequence: 22 givenname: Julia surname: Ruuth-Praz fullname: Ruuth-Praz, Julia organization: Université Pierre et Marie Curie-Paris, UMR S933, Paris F-75012, France. Assistance Publique Hôpitaux de Paris, Hôpital Trousseau, Service de Génétique et d'Embryologie médicales, Paris F-75012, France – sequence: 23 givenname: Bruno surname: Copin fullname: Copin, Bruno organization: Assistance Publique Hôpitaux de Paris, Hôpital Trousseau, Service de Génétique et d'Embryologie médicales, Paris F-75012, France – sequence: 24 givenname: Emmanuelle surname: Cochet fullname: Cochet, Emmanuelle organization: Assistance Publique Hôpitaux de Paris, Hôpital Trousseau, Service de Génétique et d'Embryologie médicales, Paris F-75012, France – sequence: 25 givenname: Myrna surname: Medlej-Hashim fullname: Medlej-Hashim, Myrna organization: Department of Life and Earth Sciences, Faculty of Sciences II, Lebanese University, Beirut 1102 2801, Lebanon – sequence: 26 givenname: Andre surname: Megarbane fullname: Megarbane, Andre organization: Al-Jawhara Center, Arabian Gulf University, Manama 26671, Bahrain – sequence: 27 givenname: Kate surname: Schroder fullname: Schroder, Kate organization: Institute for Molecular Bioscience (IMB) and IMB Centre for Inflammation and Disease Research, The University of Queensland, Brisbane, Queensland 4072, Australia – sequence: 28 givenname: Sinisa surname: Savic fullname: Savic, Sinisa organization: Department of Allergy and Clinical Immunology, Saint James's University Hospital, Leeds LS9 7TF, UK. National Institute for Health Research-Leeds Musculoskeletal Biomedical Research Unit and Leeds Institute of Rheumatic and Musculoskeletal Medicine, Wellcome Trust Brenner Building, Saint James's University Hospital, Beckett Street, Leeds LS9 7TF, UK – sequence: 29 givenname: An surname: Goris fullname: Goris, An organization: Department of Neurosciences, KU Leuven, Leuven 3000, Belgium – sequence: 30 givenname: Serge surname: Amselem fullname: Amselem, Serge organization: INSERM, UMR S933, Paris F-75012, France. Université Pierre et Marie Curie-Paris, UMR S933, Paris F-75012, France. Assistance Publique Hôpitaux de Paris, Hôpital Trousseau, Service de Génétique et d'Embryologie médicales, Paris F-75012, France – sequence: 31 givenname: Carine surname: Wouters fullname: Wouters, Carine email: masters@wehi.edu.au, carine.wouters@uzleuven.be, adrian.liston@vib.be organization: Department of Microbiology and Immunology, KU Leuven, Leuven 3000, Belgium. University Hospitals Leuven, Leuven 3000, Belgium. masters@wehi.edu.au carine.wouters@uzleuven.be adrian.liston@vib.be – sequence: 32 givenname: Adrian surname: Liston fullname: Liston, Adrian email: masters@wehi.edu.au, carine.wouters@uzleuven.be, adrian.liston@vib.be organization: Department of Microbiology and Immunology, KU Leuven, Leuven 3000, Belgium. Translational Immunology Laboratory, VIB, Leuven 3000, Belgium. masters@wehi.edu.au carine.wouters@uzleuven.be adrian.liston@vib.be |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/27030597$$D View this record in MEDLINE/PubMed |
BookMark | eNo1kFtLAzEQhYMo9qL_QCR_YGtuu8k-SrFVKPiiz2U2TWxkk12SbKX_3uDlaYY5cz44Z4EuwxAMQneUrChlzUPSLkcIqffmsAKwVEh6gea0FU3VMMFmaJHSJyGN4nVzjWZMEk7qVs6R24B3vYMew5QHF2wP3kN2Q8BfLh9xMFOOw3gsPxofTCzakFzC0ZwM9AlD2T6mvlzjGXujjxBc8niweDxHFzDo7E4_vBt0ZYvD3P7NJXrfPL2tn6vd6_Zl_birNG9JrmphlNLMSm64ZZTaltZWEUqgJUQqSRRRWlDLBVGgqOxEw6xhhkNni9CxJbr_5Y5TV-rYj9F5iOf9f2b2DRW2Xuw |
CitedBy_id | crossref_primary_10_1042_BST20200987 crossref_primary_10_1016_j_revmed_2021_08_004 crossref_primary_10_1016_j_cca_2022_04_011 crossref_primary_10_1097_MD9_0000000000000023 crossref_primary_10_1042_BCJ20220051 crossref_primary_10_1016_j_immuni_2019_05_020 crossref_primary_10_1002_JPER_17_0243 crossref_primary_10_1016_j_revmed_2018_01_004 crossref_primary_10_1016_j_rdc_2017_04_011 crossref_primary_10_1101_cshperspect_a028563 crossref_primary_10_1016_j_arcped_2017_12_001 crossref_primary_10_1136_jmedgenet_2017_105216 crossref_primary_10_1080_14397595_2021_1880534 crossref_primary_10_1093_gastro_goy011 crossref_primary_10_1136_annrheumdis_2017_212515 crossref_primary_10_1016_j_pharmthera_2018_02_011 crossref_primary_10_1016_j_rhum_2018_09_012 crossref_primary_10_3389_fimmu_2020_01840 crossref_primary_10_3389_fcell_2023_1173235 crossref_primary_10_1016_j_immuni_2019_08_005 crossref_primary_10_1126_sciimmunol_aag0479 crossref_primary_10_1016_j_banm_2023_10_002 crossref_primary_10_1038_s41584_020_0377_5 crossref_primary_10_3389_fmed_2022_1000167 crossref_primary_10_3389_fneur_2023_1151835 crossref_primary_10_3389_fcimb_2023_1183142 crossref_primary_10_1093_clinchem_hvaa024 crossref_primary_10_3389_fimmu_2022_894470 crossref_primary_10_1016_j_celrep_2022_111472 crossref_primary_10_1093_rheumatology_kez448 crossref_primary_10_1038_s41419_023_05745_9 crossref_primary_10_1016_j_iac_2018_08_004 crossref_primary_10_1080_08830185_2021_1876044 crossref_primary_10_1007_s12016_017_8613_8 crossref_primary_10_1007_s10875_023_01621_5 crossref_primary_10_1038_s41586_021_03875_8 crossref_primary_10_3389_fimmu_2019_00414 crossref_primary_10_3389_fimmu_2019_01745 crossref_primary_10_1080_14397595_2020_1784542 crossref_primary_10_1016_j_autrev_2021_102774 crossref_primary_10_20517_jtgg_2023_32 crossref_primary_10_1002_jcp_29268 crossref_primary_10_4049_jimmunol_2000244 crossref_primary_10_1002_JLB_3MIR0919_191R crossref_primary_10_3389_fphar_2017_00278 crossref_primary_10_1093_rheumatology_kex373 crossref_primary_10_1007_s00105_020_04585_4 crossref_primary_10_1007_s00393_020_00794_3 crossref_primary_10_3389_fimmu_2019_01059 crossref_primary_10_1007_s11926_022_01073_7 crossref_primary_10_3389_fimmu_2022_926087 crossref_primary_10_1002_cti2_1481 crossref_primary_10_1016_j_jtauto_2019_100031 crossref_primary_10_1111_bjd_17466 crossref_primary_10_36485_1561_6274_2023_27_3_23_31 crossref_primary_10_2169_naika_108_1918 crossref_primary_10_1136_annrheumdis_2016_210021 crossref_primary_10_1016_j_jbspin_2018_11_003 crossref_primary_10_1016_j_coi_2018_09_014 crossref_primary_10_1016_j_revmed_2018_02_005 crossref_primary_10_2478_rir_2021_0030 crossref_primary_10_1016_j_adengl_2017_06_015 crossref_primary_10_1080_03009742_2021_1904588 crossref_primary_10_1136_ard_2023_225085 crossref_primary_10_1128_MMBR_00015_18 crossref_primary_10_1016_j_lpm_2018_12_003 crossref_primary_10_1136_annrheumdis_2018_213764 crossref_primary_10_1016_j_jaci_2018_04_033 crossref_primary_10_1097_BOR_0000000000000362 crossref_primary_10_1126_science_adg2253 crossref_primary_10_1016_j_molmed_2016_05_003 crossref_primary_10_1016_j_coi_2017_10_011 crossref_primary_10_1038_ni_3511 crossref_primary_10_1016_j_imlet_2023_04_001 crossref_primary_10_1038_s41418_024_01297_3 crossref_primary_10_1111_cmi_13309 crossref_primary_10_1111_imj_14414 crossref_primary_10_1242_jcs_207365 crossref_primary_10_1007_s00105_020_04582_7 crossref_primary_10_1111_imr_12534 crossref_primary_10_3389_fimmu_2019_02448 crossref_primary_10_1111_imr_12898 crossref_primary_10_1136_jclinpath_2016_203810 crossref_primary_10_1371_journal_ppat_1006035 crossref_primary_10_1016_j_ajpath_2016_10_015 crossref_primary_10_3389_fimmu_2022_991044 crossref_primary_10_1038_s41598_021_03073_6 crossref_primary_10_1016_j_it_2019_09_005 crossref_primary_10_1016_j_gene_2024_148155 crossref_primary_10_1016_j_mam_2022_101100 crossref_primary_10_2478_bjmg_2021_0017 crossref_primary_10_1016_j_molimm_2018_12_024 crossref_primary_10_1186_s41232_021_00181_8 crossref_primary_10_1016_j_banm_2020_03_010 crossref_primary_10_1136_annrheumdis_2021_220977 crossref_primary_10_1038_ni_3777 crossref_primary_10_1084_jem_20172060 crossref_primary_10_1002_eji_201746947 crossref_primary_10_1001_jamadermatol_2021_3899 crossref_primary_10_1080_21678707_2018_1406797 crossref_primary_10_1038_nri_2016_58 crossref_primary_10_1111_jre_12467 crossref_primary_10_1016_j_jpeds_2019_02_039 crossref_primary_10_1038_icb_2016_113 crossref_primary_10_1111_imr_12633 crossref_primary_10_1371_journal_pbio_3001351 crossref_primary_10_3390_ijms231810453 crossref_primary_10_23736_S0392_0488_20_06652_3 crossref_primary_10_3389_fimmu_2021_827815 crossref_primary_10_1016_j_mib_2020_01_005 crossref_primary_10_1093_rheumatology_keab221 crossref_primary_10_1007_s11926_018_0750_4 crossref_primary_10_1038_s41392_021_00507_5 crossref_primary_10_1111_bpa_12479 crossref_primary_10_1002_cti2_1404 crossref_primary_10_1016_j_lfs_2020_118258 crossref_primary_10_1111_exd_14916 crossref_primary_10_3390_ijms24119584 crossref_primary_10_3389_fimmu_2017_00043 crossref_primary_10_1097_MCD_0000000000000394 crossref_primary_10_3390_genes11091041 crossref_primary_10_1093_rheumatology_keab215 crossref_primary_10_1038_s41467_018_07386_5 crossref_primary_10_2174_0113894501267496231102114410 crossref_primary_10_3389_fimmu_2020_00475 crossref_primary_10_3389_fimmu_2023_1341680 crossref_primary_10_3389_fimmu_2019_00101 crossref_primary_10_1007_s10875_021_01008_4 crossref_primary_10_1093_rheumatology_kez294 crossref_primary_10_1093_intimm_dxx018 crossref_primary_10_1189_jlb_3MR0617_250R crossref_primary_10_1016_j_berh_2016_09_001 crossref_primary_10_3390_ijms21186901 crossref_primary_10_3390_ijms22126360 crossref_primary_10_3389_fimmu_2018_02422 crossref_primary_10_1002_med_21958 crossref_primary_10_1111_cmi_13184 crossref_primary_10_1093_rheumatology_keaa005 crossref_primary_10_1016_j_phrs_2020_105236 crossref_primary_10_1002_path_4812 crossref_primary_10_1038_nri_2016_151 crossref_primary_10_26508_lsa_201900376 crossref_primary_10_1097_BOR_0000000000000422 crossref_primary_10_1016_j_celrep_2022_111636 crossref_primary_10_1111_ahg_12493 crossref_primary_10_1016_j_cytogfr_2016_11_001 crossref_primary_10_1016_j_jaci_2021_10_027 crossref_primary_10_1016_j_tibs_2018_06_008 crossref_primary_10_3390_life12050731 crossref_primary_10_1152_physrev_00026_2016 crossref_primary_10_1038_s41577_022_00682_8 crossref_primary_10_1038_ni_3457 crossref_primary_10_1042_BSR20181709 crossref_primary_10_35440_hutfd_826687 crossref_primary_10_1083_jcb_201602089 crossref_primary_10_1093_femspd_fty020 crossref_primary_10_3390_ijms20081997 crossref_primary_10_1038_s41584_021_00614_1 crossref_primary_10_1016_j_jid_2021_07_189 crossref_primary_10_3390_molecules26061704 crossref_primary_10_1038_s41584_022_00797_1 crossref_primary_10_1042_CS20171498 crossref_primary_10_1093_rheumatology_kead294 crossref_primary_10_1016_j_abb_2019_02_020 crossref_primary_10_1146_annurev_micro_020518_120221 crossref_primary_10_3390_cells11081307 crossref_primary_10_1083_jcb_202003053 crossref_primary_10_1189_jlb_4MR0716_330R crossref_primary_10_1002_mgg3_336 crossref_primary_10_1016_j_jid_2020_10_016 crossref_primary_10_3389_fimmu_2018_01426 crossref_primary_10_1038_s41467_021_22979_3 crossref_primary_10_1084_jem_20211889 crossref_primary_10_1007_s10875_021_01021_7 crossref_primary_10_1016_j_ad_2016_12_021 crossref_primary_10_1016_j_bbrc_2023_02_013 crossref_primary_10_1016_j_clim_2020_108538 crossref_primary_10_1084_jem_20160933 crossref_primary_10_1038_s41590_020_0669_6 crossref_primary_10_1038_s41575_018_0054_1 crossref_primary_10_1172_jci_insight_172975 crossref_primary_10_1007_s11882_019_0874_2 crossref_primary_10_1111_cge_14566 crossref_primary_10_1007_s10875_023_01520_9 crossref_primary_10_1016_j_berh_2020_101529 crossref_primary_10_1016_j_lpm_2018_08_015 crossref_primary_10_1016_j_autrev_2018_06_001 crossref_primary_10_1136_annrheumdis_2017_211473 crossref_primary_10_1016_j_chom_2016_07_018 crossref_primary_10_3389_fimmu_2022_870535 crossref_primary_10_3389_fonc_2021_698811 crossref_primary_10_1016_j_jaci_2020_08_017 crossref_primary_10_3389_fimmu_2017_00344 crossref_primary_10_3390_dermatopathology8020026 crossref_primary_10_1073_pnas_1613156113 crossref_primary_10_1007_s00296_017_3839_6 crossref_primary_10_1111_imr_12907 crossref_primary_10_1111_imr_12908 crossref_primary_10_1007_s00393_017_0265_9 crossref_primary_10_1093_intimm_dxy009 crossref_primary_10_1128_mbio_02066_23 crossref_primary_10_1136_annrheumdis_2019_216701 crossref_primary_10_1136_annrheumdis_2018_214102 crossref_primary_10_1007_s40257_019_00440_y crossref_primary_10_15252_emmm_201910547 crossref_primary_10_1093_rheumatology_kead376 |
ContentType | Journal Article |
Copyright | Copyright © 2016, American Association for the Advancement of Science. |
Copyright_xml | – notice: Copyright © 2016, American Association for the Advancement of Science. |
DBID | CGR CUY CVF ECM EIF NPM |
DOI | 10.1126/scitranslmed.aaf1471 |
DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed |
DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) |
DatabaseTitleList | MEDLINE |
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 | no_fulltext_linktorsrc |
Discipline | Medicine |
EISSN | 1946-6242 |
ExternalDocumentID | 27030597 |
Genre | Research Support, Non-U.S. Gov't Journal Article |
GroupedDBID | --- 0R~ 4.4 53G 7~K ABJNI ACGFS AENEX AJGZS AJWWR ALMA_UNASSIGNED_HOLDINGS BKF C45 CGR CUY CVF DU5 EBS ECM EIF EJD EMOBN F5P HZ~ NPM O9- OFXIZ OVD OVIDX P2P RHI TEORI |
ID | FETCH-LOGICAL-c390t-54e88c2f73e3f211f915f8010a9007870808c41f3408a817b462fe2e3abf8c4b2 |
IngestDate | Thu May 23 23:23:46 EDT 2024 |
IsDoiOpenAccess | false |
IsOpenAccess | true |
IsPeerReviewed | true |
IsScholarly | true |
Issue | 332 |
Language | English |
License | Copyright © 2016, American Association for the Advancement of Science. |
LinkModel | OpenURL |
MergedId | FETCHMERGED-LOGICAL-c390t-54e88c2f73e3f211f915f8010a9007870808c41f3408a817b462fe2e3abf8c4b2 |
OpenAccessLink | https://stm.sciencemag.org/content/scitransmed/8/332/332ra45.full.pdf |
PMID | 27030597 |
ParticipantIDs | pubmed_primary_27030597 |
PublicationCentury | 2000 |
PublicationDate | 2016-Mar-30 |
PublicationDateYYYYMMDD | 2016-03-30 |
PublicationDate_xml | – month: 03 year: 2016 text: 2016-Mar-30 day: 30 |
PublicationDecade | 2010 |
PublicationPlace | United States |
PublicationPlace_xml | – name: United States |
PublicationTitle | Science translational medicine |
PublicationTitleAlternate | Sci Transl Med |
PublicationYear | 2016 |
SSID | ssj0068356 |
Score | 2.620964 |
Snippet | Pyrin responds to pathogen signals and loss of cellular homeostasis by forming an inflammasome complex that drives the cleavage and secretion of interleukin-1β... |
SourceID | pubmed |
SourceType | Index Database |
StartPage | 332ra45 |
SubjectTerms | Female HEK293 Cells Hereditary Autoinflammatory Diseases - complications Hereditary Autoinflammatory Diseases - immunology Hereditary Autoinflammatory Diseases - pathology Humans Inflammasomes - metabolism Interleukin-1beta - metabolism Male Mutation - genetics Neutrophils - pathology Pedigree Pyrin - metabolism Skin Diseases - complications Skin Diseases - immunology Skin Diseases - pathology |
Title | Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation |
URI | https://www.ncbi.nlm.nih.gov/pubmed/27030597 |
Volume | 8 |
hasFullText | |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb9QwELa2RUJcEO8CBfnADaWKH2snR4RaFUR7oZV6q2zHRitostpmkeDv8EeZsZ1NtAUEXKIkI1l2vk8Te56EvBKhAR4JW4SmCoUM2haVcmXBuePaiKbUNkb5nqrjc_n-Yn4xm_2YRC2te3vgvv8yr-R_UIV3gCtmyf4DsptB4QXcA75wBYTh-lcYx64VaPI2676DAQHdlImYzKutX_erbokmE_e6QRXcd1h_BKs2YdVkA3exEz362a885gBjywyMgf62WrSxzsbXEbm8hR20QY9_uS-DLXHbR39isAJDJMlHD3PZ2Jg_mE_dOkbXmmuY2OfFJoYn-exXUfju2qBHZHT5mxz9gZGM2ZWVbRVMxeS95HbxSb_WUhWYkjJVwNWEZyJbO5M6haeVSeUmb6r6oTllWi4s88CYwGTq6DJBf3kV4edRt6Vg4D9LtwpwD6IdsqMr7A5yigah9LNXsIFVOSMz52LdmA7Wm85DbJ1d4h7m7B65mw8f9E1i0n0y8-0DcvskQ_eQLAZC0W1CUSQUnRKKjoSimVDU0JFQdEMo2gUaCUVHQj0i50eHZ2-Pi9yLo3CiLvtiLn1VOR608CJwxkLN5gF2N6WpcZep4eBROcmCkGVlKqatVDx47oWxAQSWPya7bdf6PUJB7qzSvpZaSDM3dW2wxBGz3jbMqeYpeZI-0uUyFVy5HD7fs99KnpM7I9_2ya0Ai_YvYLvY25cRsJ-jxnMp |
link.rule.ids | 780 |
linkProvider | National Library of Medicine |
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=Familial+autoinflammation+with+neutrophilic+dermatosis+reveals+a+regulatory+mechanism+of+pyrin+activation&rft.jtitle=Science+translational+medicine&rft.au=Masters%2C+Seth+L&rft.au=Lagou%2C+Vasiliki&rft.au=J%C3%A9ru%2C+Isabelle&rft.au=Baker%2C+Paul+J&rft.date=2016-03-30&rft.eissn=1946-6242&rft.volume=8&rft.issue=332&rft.spage=332ra45&rft_id=info:doi/10.1126%2Fscitranslmed.aaf1471&rft_id=info%3Apmid%2F27030597&rft_id=info%3Apmid%2F27030597&rft.externalDocID=27030597 |