IKZF1 Loss-of-Function Variant Causes Autoimmunity and Severe Familial Antiphospholipid Syndrome
Saved in:
| Published in | Journal of clinical immunology Vol. 39; no. 4; pp. 353 - 357 |
|---|---|
| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Springer US
01.05.2019
Springer Nature B.V Springer Verlag |
| Subjects | |
| Online Access | Get full text |
Cover
Loading…
| Author | Korganow, Anne-Sophie Guffroy, Aurélien Dieudonné, Yannick Vollmer, Olivier Carapito, Raphael |
|---|---|
| Author_xml | – sequence: 1 givenname: Yannick surname: Dieudonné fullname: Dieudonné, Yannick organization: CNRS UPR 3572, Immunopathology and Therapeutic Chemistry, Laboratory of Excellence Medalis, Institute of Molecular and Cellular Biology (IBMC), Department of Clinical Immunology and Internal Medicine, National Reference Center for Autoimmune Diseases, Hôpitaux Universitaires de Strasbourg, UFR Médecine, Université de Strasbourg – sequence: 2 givenname: Aurélien orcidid: 0000-0003-0615-5305 surname: Guffroy fullname: Guffroy, Aurélien organization: CNRS UPR 3572, Immunopathology and Therapeutic Chemistry, Laboratory of Excellence Medalis, Institute of Molecular and Cellular Biology (IBMC), Department of Clinical Immunology and Internal Medicine, National Reference Center for Autoimmune Diseases, Hôpitaux Universitaires de Strasbourg, UFR Médecine, Université de Strasbourg – sequence: 3 givenname: Olivier surname: Vollmer fullname: Vollmer, Olivier organization: Department of Clinical Immunology and Internal Medicine, National Reference Center for Autoimmune Diseases, Hôpitaux Universitaires de Strasbourg – sequence: 4 givenname: Raphael surname: Carapito fullname: Carapito, Raphael organization: UFR Médecine, Université de Strasbourg, Laboratoire d’ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, Service d’Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil – sequence: 5 givenname: Anne-Sophie surname: Korganow fullname: Korganow, Anne-Sophie email: korganow@unistra.fr organization: CNRS UPR 3572, Immunopathology and Therapeutic Chemistry, Laboratory of Excellence Medalis, Institute of Molecular and Cellular Biology (IBMC), Department of Clinical Immunology and Internal Medicine, National Reference Center for Autoimmune Diseases, Hôpitaux Universitaires de Strasbourg, UFR Médecine, Université de Strasbourg |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/31089937$$D View this record in MEDLINE/PubMed https://hal.science/hal-03406545$$DView record in HAL |
| BookMark | eNp9kctu1DAUhi1URKeFF2CBIrGhi8DxLU6WoxFDK0ZiwWXBxpxxHOoqsQc7qTRvj9OUInXRhXWso-8_t_-MnPjgLSGvKbynAOpDolArWQJtSoBK8JI9IysqVf7Ihp2QFTBFy4YKdkrOUroBAF4x-YKc8qxsGq5W5NfV559bWuxCSmXoyu3kzeiCL35gdOjHYoNTsqlYT2NwwzB5Nx4L9G3x1d7aaIstDq532BdrP7rDdUj59e7gMnD0bQyDfUmed9gn--o-npPv24_fNpfl7sunq816Vxqh5FjWWANnYHhnUDSguEHoWmOlFRzQckmxsaZr9tKaSgnZ8Mqodt8h47QCyvg5uVjqXmOvD9ENGI86oNOX652ec8AFVFLIW5rZdwt7iOHPZNOoB5eM7Xv0NkxJM5ZHoYLWIqNvH6E3YYo-b5IpJpSglM_Um3tq2g-2fej_784ZYAtgYr50tN0DQkHPZurFTJ3N1Hdm6nml-pHIuBFne8aIrn9ayhdpyn38bxv_j_2E6i9IvLFV |
| CitedBy_id | crossref_primary_10_1093_rheumatology_keaa492 crossref_primary_10_1016_j_revmed_2023_08_004 crossref_primary_10_1182_blood_2020007292 crossref_primary_10_1016_j_iac_2020_04_004 crossref_primary_10_1016_j_coi_2021_06_010 crossref_primary_10_3389_fmolb_2021_788440 crossref_primary_10_3389_fonc_2024_1383419 crossref_primary_10_1101_mcs_a006015 crossref_primary_10_1097_BOR_0000000000001008 crossref_primary_10_1038_s41435_024_00255_w crossref_primary_10_1080_1744666X_2021_1901582 crossref_primary_10_1093_cei_uxac109 crossref_primary_10_3390_pathogens13030259 crossref_primary_10_1016_j_autrev_2021_102798 crossref_primary_10_1172_JCI178692 crossref_primary_10_1007_s10875_020_00936_x |
| Cites_doi | 10.1016/j.jaci.2016.09.029 10.3389/fimmu.2019.00568 10.1016/j.jaci.2016.12.978 10.1074/jbc.M115.704239 10.1016/j.jaci.2018.04.008 10.1016/j.jaci.2017.08.019 10.1172/JCI98164 10.1016/j.clim.2018.09.006 10.1016/j.jaci.2017.04.041 10.1038/ejhg.2012.277 10.1002/1521-4141(200203)32:3<720::AID-IMMU720>3.0.CO;2-P 10.1002/eji.200637026 10.1111/jth.14192 10.1038/nature06866 10.1177/0961203310367918 10.1056/NEJMoa1512234 |
| ContentType | Journal Article |
| Copyright | Springer Science+Business Media, LLC, part of Springer Nature 2019 Journal of Clinical Immunology is a copyright of Springer, (2019). All Rights Reserved. Distributed under a Creative Commons Attribution 4.0 International License |
| Copyright_xml | – notice: Springer Science+Business Media, LLC, part of Springer Nature 2019 – notice: Journal of Clinical Immunology is a copyright of Springer, (2019). All Rights Reserved. – notice: Distributed under a Creative Commons Attribution 4.0 International License |
| DBID | AAYXX CITATION NPM 3V. 7T5 7X7 7XB 88E 8AO 8C1 8FE 8FH 8FI 8FJ 8FK ABUWG AFKRA AZQEC BBNVY BENPR BHPHI CCPQU DWQXO FYUFA GHDGH GNUQQ H94 HCIFZ K9. LK8 M0S M1P M7P PHGZM PHGZT PJZUB PKEHL PPXIY PQEST PQGLB PQQKQ PQUKI PRINS 7X8 1XC |
| DOI | 10.1007/s10875-019-00643-2 |
| DatabaseName | CrossRef PubMed ProQuest Central (Corporate) Immunology Abstracts Health & Medical Collection (ProQuest) ProQuest Central (purchase pre-March 2016) Medical Database (Alumni Edition) ProQuest Pharma Collection Public Health Database ProQuest SciTech Collection ProQuest Natural Science Collection Hospital Premium Collection Hospital Premium Collection (Alumni Edition) ProQuest Central (Alumni) (purchase pre-March 2016) ProQuest Central (Alumni) ProQuest Central UK/Ireland ProQuest Central Essentials Biological Science Collection ProQuest Central Database Suite (ProQuest) Natural Science Collection ProQuest One ProQuest Central Korea Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Central Student AIDS and Cancer Research Abstracts SciTech Premium Collection ProQuest Health & Medical Complete (Alumni) Biological Sciences ProQuest Health & Medical Collection Medical Database Biological Science Database ProQuest Central Premium ProQuest One Academic (New) ProQuest Health & Medical Research Collection ProQuest One Academic Middle East (New) ProQuest One Health & Nursing ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Applied & Life Sciences ProQuest One Academic ProQuest One Academic UKI Edition ProQuest Central China MEDLINE - Academic Hyper Article en Ligne (HAL) |
| DatabaseTitle | CrossRef PubMed ProQuest Central Student ProQuest One Academic Middle East (New) ProQuest Central Essentials ProQuest Health & Medical Complete (Alumni) ProQuest Central (Alumni Edition) SciTech Premium Collection ProQuest One Community College ProQuest One Health & Nursing ProQuest Natural Science Collection ProQuest Pharma Collection ProQuest Central China ProQuest Central ProQuest One Applied & Life Sciences ProQuest Health & Medical Research Collection Health Research Premium Collection Health and Medicine Complete (Alumni Edition) Natural Science Collection ProQuest Central Korea Health & Medical Research Collection Biological Science Collection AIDS and Cancer Research Abstracts ProQuest Central (New) ProQuest Medical Library (Alumni) ProQuest Public Health ProQuest Biological Science Collection ProQuest One Academic Eastern Edition ProQuest Hospital Collection Health Research Premium Collection (Alumni) Biological Science Database ProQuest SciTech Collection ProQuest Hospital Collection (Alumni) ProQuest Health & Medical Complete ProQuest Medical Library ProQuest One Academic UKI Edition Immunology Abstracts ProQuest One Academic ProQuest One Academic (New) ProQuest Central (Alumni) MEDLINE - Academic |
| 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: BENPR name: ProQuest Central url: https://www.proquest.com/central sourceTypes: Aggregation Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 1573-2592 |
| EndPage | 357 |
| ExternalDocumentID | oai_HAL_hal_03406545v1 31089937 10_1007_s10875_019_00643_2 |
| Genre | Letter Research Support, Non-U.S. Gov't Correspondence |
| GroupedDBID | --- -4W -56 -5G -BR -EM -~C .86 .VR 06C 06D 0R~ 0VY 199 1N0 203 29K 29~ 2J2 2JN 2JY 2KG 2KM 2LR 2~H 30V 4.4 406 408 409 40D 40E 5GY 5RE 5VS 67N 67Z 6NX 78A 7X7 88E 8AO 8C1 8FE 8FH 8FI 8FJ 8TC 8UJ 95- 95. 95~ 96X AAAVM AABHQ AACDK AAHNG AAIAL AAJBT AAJKR AAJSJ AANZL AARTL AASML AATNV AATVU AAUYE AAWCG AAYIU AAYQN AAYZH ABAKF ABBBX ABBXA ABDZT ABECU ABFTV ABHLI ABHQN ABJNI ABJOX ABKCH ABKTR ABMNI ABMQK ABNWP ABPLI ABQBU ABSXP ABTEG ABTHY ABTKH ABTMW ABUWG ABWNU ABXPI ACAOD ACDTI ACGFS ACHSB ACHVE ACHXU ACKNC ACMDZ ACMLO ACOKC ACOMO ACPIV ACPRK ACULB ACZOJ ADBBV ADHHG ADHIR ADIMF ADINQ ADKNI ADKPE ADRFC ADTPH ADURQ ADYFF ADZKW AEFQL AEGAL AEGNC AEJHL AEJRE AEMSY AENEX AEOHA AEPYU AESKC AETLH AEVLU AEXYK AFBBN AFKRA AFLOW AFQWF AFWTZ AFZKB AGAYW AGDGC AGMZJ AGQEE AGQMX AGRTI AGWIL AGWZB AGYKE AHAVH AHBYD AHKAY AHMBA AHSBF AHYZX AIAKS AIGIU AIIXL AILAN AITGF AJRNO AJZVZ AKMHD ALIPV ALMA_UNASSIGNED_HOLDINGS ALWAN AMKLP AMXSW AMYLF AMYQR AOCGG ARMRJ ASPBG AVWKF AXYYD AZFZN B-. BA0 BBNVY BDATZ BENPR BGNMA BHPHI BPHCQ BSONS BVXVI C6C CCPQU CS3 CSCUP D-I DDRTE DL5 DNIVK DPUIP EBD EBLON EBS EIOEI EJD EMOBN EPAXT ESBYG F5P FEDTE FERAY FFXSO FIGPU FINBP FNLPD FRRFC FSGXE FWDCC FYUFA G-Y G-Z GGCAI GGRSB GJIRD GNWQR GQ6 GQ7 GQ8 GXS HCIFZ HF~ HG5 HG6 HMCUK HMJXF HQYDN HRMNR HVGLF I09 IHE IJ- IKXTQ ITM IWAJR IXC IZIGR IZQ I~X I~Z J-C J0Z JBSCW JCJTX JZLTJ KDC KOV KPH L7B LAK LK8 LLZTM M1P M4Y M7P MA- N9A NB0 NPVJJ NQJWS NU0 O93 O9G O9I O9J OAM P19 P2P PF0 PQQKQ PROAC PSQYO PT4 PT5 Q2X QOK QOR QOS R89 R9I RHV RNS ROL RPX RRX RSV S16 S27 S3A S3B SAP SBL SDH SDM SHX SISQX SJYHP SNE SNPRN SNX SOHCF SOJ SPISZ SRMVM SSLCW SSXJD STPWE SV3 SZN T13 TSG TSK TSV TUC U2A U9L UG4 UKHRP UOJIU UTJUX VC2 VVN W23 W48 WJK WK8 YLTOR Z45 Z7U Z82 Z87 Z8O Z8V Z91 ZMTXR ZOVNA ~EX ~KM -Y2 .GJ 1SB 2.D 28- 2P1 2VQ 3SX 53G 5QI AANXM AAPKM AARHV AAYTO AAYXX ABBRH ABDBE ABEEZ ABFSG ABQSL ACBXY ACSTC ADHKG ADYPR AEBTG AEFIE AEKMD AEZWR AFDZB AFEXP AFFNX AFGCZ AFGXO AFHIU AFOHR AGGDS AGJBK AGQPQ AHPBZ AHWEU AIXLP AJBLW ATHPR AYFIA BBWZM CAG CITATION COF EN4 H13 HZ~ KOW N2Q NDZJH O9- OVD PHGZM PHGZT R4E RNI RZC RZE RZK S1Z S26 S28 SBY SCLPG T16 TEORI UZXMN VFIZW WK6 Y6R ZGI NPM 3V. 7T5 7XB 8FK AZQEC DWQXO GNUQQ H94 K9. PJZUB PKEHL PPXIY PQEST PQGLB PQUKI PRINS 7X8 1XC |
| ID | FETCH-LOGICAL-c475t-8a80320c3fca49073ca0fdce5e430ae351a9ecf9b5ec6745936c7dbfa23160123 |
| IEDL.DBID | U2A |
| ISSN | 0271-9142 1573-2592 |
| IngestDate | Thu Jul 10 08:55:53 EDT 2025 Fri Jul 11 05:57:01 EDT 2025 Fri Jul 25 19:42:53 EDT 2025 Thu Apr 03 06:53:29 EDT 2025 Thu Apr 24 22:53:12 EDT 2025 Tue Jul 01 03:13:23 EDT 2025 Fri Feb 21 02:34:24 EST 2025 |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 4 |
| Keywords | b-cells ikaros |
| Language | English |
| License | Distributed under a Creative Commons Attribution 4.0 International License: http://creativecommons.org/licenses/by/4.0 |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c475t-8a80320c3fca49073ca0fdce5e430ae351a9ecf9b5ec6745936c7dbfa23160123 |
| Notes | SourceType-Scholarly Journals-1 ObjectType-Correspondence-1 content type line 14 ObjectType-Case Study-2 ObjectType-Correspondence-3 content type line 23 ObjectType-Article-4 ObjectType-Report-1 |
| ORCID | 0000-0003-0615-5305 0000-0002-7036-442X 0000-0002-1664-6311 |
| PMID | 31089937 |
| PQID | 2224741134 |
| PQPubID | 37573 |
| PageCount | 5 |
| ParticipantIDs | hal_primary_oai_HAL_hal_03406545v1 proquest_miscellaneous_2232014184 proquest_journals_2224741134 pubmed_primary_31089937 crossref_primary_10_1007_s10875_019_00643_2 crossref_citationtrail_10_1007_s10875_019_00643_2 springer_journals_10_1007_s10875_019_00643_2 |
| ProviderPackageCode | CITATION AAYXX |
| PublicationCentury | 2000 |
| PublicationDate | 2019-05-01 |
| PublicationDateYYYYMMDD | 2019-05-01 |
| PublicationDate_xml | – month: 05 year: 2019 text: 2019-05-01 day: 01 |
| PublicationDecade | 2010 |
| PublicationPlace | New York |
| PublicationPlace_xml | – name: New York – name: Netherlands |
| PublicationSubtitle | International Journal of Inborn Errors of Immunity and Related Diseases |
| PublicationTitle | Journal of clinical immunology |
| PublicationTitleAbbrev | J Clin Immunol |
| PublicationTitleAlternate | J Clin Immunol |
| PublicationYear | 2019 |
| Publisher | Springer US Springer Nature B.V Springer Verlag |
| Publisher_xml | – name: Springer US – name: Springer Nature B.V – name: Springer Verlag |
| References | Wang, Ahlford, Järvinen, Nordmark, Eloranta, Gunnarsson (CR15) 2013; 21 Turpin, Furudoi, Parrens, Blanco, Viallard, Duluc (CR8) 2018; 197 Hoshino, Okada, Yoshida, Nishida, Okuno, Ueno, Yamashita, Okano, Tsumura, Nishimura, Sakata, Kobayashi, Nakamura, Kamizono, Mitsui-Sekinaka, Ichimura, Ohga, Nakazawa, Takagi, Imai, Shiraishi, Chiba, Tanaka, Miyano, Ogawa, Kojima, Nonoyama, Morio, Kanegane (CR6) 2017; 140 Wojcik, Griffiths, Staggs, Hagman, Winandy (CR12) 2007; 37 Macias-Garcia, Heizmann, Sellars, Marchal, Dali, Pasquali, Muller, Kastner, Chan (CR11) 2016; 291 Mullighan, Miller, Radtke, Phillips, Dalton, Ma, White, Hughes, le Beau, Pui, Relling, Shurtleff, Downing (CR1) 2008; 453 Unger, Seidl, van Schouwenburg, Rakhmanov, Bulashevska, Frede, Grimbacher, Pfeiffer, Schrenk, Munoz, Hanitsch, Stumpf, Kaiser, Hausmann, Kollert, Goldacker, van der Burg, Keller, Warnatz (CR13) 2018; 141 Boutboul, Kuehn, Van de Wyngaert, Niemela, Callebaut, Stoddard (CR3) 2018; 128 Kirstetter, Thomas, Dierich, Kastner, Chan (CR10) 2002; 32 Eskandarian, Fliegauf, Bulashevska, Proietti, Hague, Smulski, Schubert, Warnatz, Grimbacher (CR7) 2019; 10 Bogaert, Kuehn, Bonroy, Calvo, Dehoorne, Vanlander, de Bruyne, Cytlak, Bigley, de Baets, de Baere, Rosenzweig, Haerynck, Dullaers (CR4) 2018; 141 He, Liu, Cheng, Gao, Pan, Han, Quan, Sun, Zheng, Zuo, Xu, Sheng, Yao, Hu, Li, Yu, Yin, Zhang, Cui, Yang (CR14) 2010; 19 Legault, Schunemann, Hillis, Yeung, Akl, Carrier, Cervera, Crowther, Dentali, Erkan, Espinosa, Khamashta, Meerpohl, Moffat, O'Brien, Pengo, Rand, Rodriguez Pinto, Thom, Iorio (CR16) 2018; 16 Fischer, Provot, Jais, Alcais, Mahlaoui, Adoue, Aladjidi, Amoura, Arlet, Armari-Alla, Bader-Meunier, Barlogis, Bayart, Beaurain, Bertrand, Bienvenu, Blanche, Bodet, Bonnotte, Borie, Boutard, Briandet, Brion, Brito, Brouard, Catherinot, Chandesris, Cohen-Beaussant, Coignard-Biehler, Costes, Couderc, Couillault, Courteille, Curlier, de Saint Basile, Demeocq, de Vergnes, Devoldere, Deville, Donadieu, Dore, Dulieu, Durieu, Edan, Entz Werle, Fieschi, Fouyssac, Frange, Gajdos, Galicier, Gandemer, Gardembas, Gaud, Grosbois, Guillerm, Hachulla, Hamidou, Héritier, Hermine, Hoarau, Hoen, Hot, Humbert, Jaccard, Jacquot, Jais, Jaussaud, Jeandel, Jeziorski, Kebaili, Korganow, Labrune, Lambotte, Lanternier, Larroche, le Quellec, le Moigne, le Moing, Lebranchu, Lecuit, Lefevre, Lemal, le Moine, Li Thiao te, Lortholary, Lutz, Magerus-Chatinet, Malphettes, Marie-Cardine, Martin Silva, Masseau, Massot, Mazingue, Merlin, Michel, Millot, Minckes, Monlibert, Monpoux, Moshous, Mouthon, Munzer, Neven, Nove-Josserand, Oksenhendler, Ouachée-Chardin, Pagnier, Pasquali, Pasquet, Pellier, Perel, Perlat, Picard, Piguet, Plantaz, Quartier, Rieux-Laucat, Roblot, Roger, Rohrlich, Royer, Salle, Sarrot-Reynauld, Servettaz, Stephan, Schleinitz, Suarez, Swiader, Taque, Thomas, Tournilhac, Thumerelle, Vannier, Viallard (CR9) 2017; 140 Kuehn, Boisson, Cunningham-Rundles, Reichenbach, Stray-Pedersen, Gelfand, Maffucci, Pierce, Abbott, Voelkerding, South, Augustine, Bush, Dolen, Wray, Itan, Cobat, Sorte, Ganesan, Prader, Martins, Lawrence, Orange, Calvo, Niemela, Casanova, Fleisher, Hill, Kumánovics, Conley, Rosenzweig (CR2) 2016; 374 Van Nieuwenhove, Garcia-Perez, Helsen, Rodriguez, van Schouwenburg, Dooley (CR5) 2018; 142 A Fischer (643_CR9) 2017; 140 D Boutboul (643_CR3) 2018; 128 E Van Nieuwenhove (643_CR5) 2018; 142 Z Eskandarian (643_CR7) 2019; 10 D Turpin (643_CR8) 2018; 197 A Macias-Garcia (643_CR11) 2016; 291 K Legault (643_CR16) 2018; 16 H Wojcik (643_CR12) 2007; 37 CG Mullighan (643_CR1) 2008; 453 P Kirstetter (643_CR10) 2002; 32 DJ Bogaert (643_CR4) 2018; 141 C Wang (643_CR15) 2013; 21 A Hoshino (643_CR6) 2017; 140 HS Kuehn (643_CR2) 2016; 374 S Unger (643_CR13) 2018; 141 C-F He (643_CR14) 2010; 19 |
| References_xml | – volume: 140 start-page: 223 year: 2017 end-page: 231 ident: CR6 article-title: Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2016.09.029 – volume: 10 start-page: 568 year: 2019 ident: CR7 article-title: Assessing the functional relevance of variants in the IKAROS family zinc finger protein 1 (IKZF1) in a cohort of patients with primary immunodeficiency publication-title: Front Immunol doi: 10.3389/fimmu.2019.00568 – volume: 140 start-page: 1388 year: 2017 end-page: 1393 ident: CR9 article-title: Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2016.12.978 – volume: 291 start-page: 9073 year: 2016 end-page: 9086 ident: CR11 article-title: Ikaros is a negative regulator of B1 cell development and function publication-title: J Biol Chem doi: 10.1074/jbc.M115.704239 – volume: 142 start-page: 699 year: 2018 end-page: 702 ident: CR5 article-title: A kindred with mutant IKAROS and autoimmunity publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2018.04.008 – volume: 141 start-page: 432 year: 2018 end-page: 435 ident: CR4 article-title: A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2017.08.019 – volume: 128 start-page: 3071 year: 2018 end-page: 3087 ident: CR3 article-title: Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency publication-title: J Clin Invest doi: 10.1172/JCI98164 – volume: 197 start-page: 130 year: 2018 end-page: 138 ident: CR8 article-title: Increase of follicular helper T cells skewed toward a Th1 profile in CVID patients with non-infectious clinical complications publication-title: Clin Immunol doi: 10.1016/j.clim.2018.09.006 – volume: 141 start-page: 730 year: 2018 end-page: 740 ident: CR13 article-title: The T H 1 phenotype of follicular helper T cells indicates an IFN-γ–associated immune dysregulation in patients with CD21low common variable immunodeficiency publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2017.04.041 – volume: 21 start-page: 994 year: 2013 end-page: 999 ident: CR15 article-title: Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations publication-title: Eur J Hum Genet doi: 10.1038/ejhg.2012.277 – volume: 32 start-page: 720 year: 2002 end-page: 730 ident: CR10 article-title: Ikaros is critical for B cell differentiation and function publication-title: Eur J Immunol doi: 10.1002/1521-4141(200203)32:3<720::AID-IMMU720>3.0.CO;2-P – volume: 37 start-page: 1022 year: 2007 end-page: 1032 ident: CR12 article-title: Expression of a non-DNA-binding Ikaros isoform exclusively in B cells leads to autoimmunity but not leukemogenesis publication-title: Eur J Immunol doi: 10.1002/eji.200637026 – volume: 16 start-page: 1656 year: 2018 end-page: 1664 ident: CR16 article-title: McMaster RARE-Bestpractices clinical practice guideline on diagnosis and management of the catastrophic antiphospholipid syndrome publication-title: J Thromb Haemost JTH doi: 10.1111/jth.14192 – volume: 453 start-page: 110 year: 2008 end-page: 114 ident: CR1 article-title: BCR–ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros publication-title: Nature. doi: 10.1038/nature06866 – volume: 19 start-page: 1181 year: 2010 end-page: 1186 ident: CR14 article-title: TNIP1, SLC15A4, ETS1, RasGRP3 and IKZF1 are associated with clinical features of systemic lupus erythematosus in a Chinese Han population publication-title: Lupus. doi: 10.1177/0961203310367918 – volume: 374 start-page: 1032 year: 2016 end-page: 1043 ident: CR2 article-title: Loss of B cells in patients with heterozygous mutations in IKAROS publication-title: N Engl J Med doi: 10.1056/NEJMoa1512234 – volume: 37 start-page: 1022 year: 2007 ident: 643_CR12 publication-title: Eur J Immunol doi: 10.1002/eji.200637026 – volume: 453 start-page: 110 year: 2008 ident: 643_CR1 publication-title: Nature. doi: 10.1038/nature06866 – volume: 291 start-page: 9073 year: 2016 ident: 643_CR11 publication-title: J Biol Chem doi: 10.1074/jbc.M115.704239 – volume: 10 start-page: 568 year: 2019 ident: 643_CR7 publication-title: Front Immunol doi: 10.3389/fimmu.2019.00568 – volume: 16 start-page: 1656 year: 2018 ident: 643_CR16 publication-title: J Thromb Haemost JTH doi: 10.1111/jth.14192 – volume: 197 start-page: 130 year: 2018 ident: 643_CR8 publication-title: Clin Immunol doi: 10.1016/j.clim.2018.09.006 – volume: 374 start-page: 1032 year: 2016 ident: 643_CR2 publication-title: N Engl J Med doi: 10.1056/NEJMoa1512234 – volume: 141 start-page: 432 year: 2018 ident: 643_CR4 publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2017.08.019 – volume: 19 start-page: 1181 year: 2010 ident: 643_CR14 publication-title: Lupus. doi: 10.1177/0961203310367918 – volume: 142 start-page: 699 year: 2018 ident: 643_CR5 publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2018.04.008 – volume: 21 start-page: 994 year: 2013 ident: 643_CR15 publication-title: Eur J Hum Genet doi: 10.1038/ejhg.2012.277 – volume: 128 start-page: 3071 year: 2018 ident: 643_CR3 publication-title: J Clin Invest doi: 10.1172/JCI98164 – volume: 141 start-page: 730 year: 2018 ident: 643_CR13 publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2017.04.041 – volume: 140 start-page: 1388 year: 2017 ident: 643_CR9 publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2016.12.978 – volume: 32 start-page: 720 year: 2002 ident: 643_CR10 publication-title: Eur J Immunol doi: 10.1002/1521-4141(200203)32:3<720::AID-IMMU720>3.0.CO;2-P – volume: 140 start-page: 223 year: 2017 ident: 643_CR6 publication-title: J Allergy Clin Immunol doi: 10.1016/j.jaci.2016.09.029 |
| SSID | ssj0003625 |
| Score | 2.3365748 |
| SourceID | hal proquest pubmed crossref springer |
| SourceType | Open Access Repository Aggregation Database Index Database Enrichment Source Publisher |
| StartPage | 353 |
| SubjectTerms | Antiphospholipid syndrome Biomedical and Life Sciences Biomedicine Human health and pathology Immunology Infectious Diseases Internal Medicine Letter to the Editor Life Sciences Medical Microbiology |
| SummonAdditionalLinks | – databaseName: Health & Medical Collection (ProQuest) dbid: 7X7 link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV1LT9xADLaASqgX1BZa0tJqirjBqHlMXqdqhbraUuDCQ6te0tmJIyKhZGmylfrva8_OZoVQOeSSTDKR7RnbY_szwBFDtPloExzSUCpUkcxypWWG5AIhRj4mXOB8cZlMbtTZNJ66A7fOpVWu9kS7UZet4TPyL6THFGm_IFJf5w-Su0ZxdNW10NiEFwxdxild6XRwuHhztimMYRrQolahK5pxpXNkqZMjnUurlWX4SDFt3nFa5FOb80m81Kqh8SvYcfajGC0Z_ho2sHkD2xcuQr4Lv77_-DkOxDlNIdtKjkltMenFLfnERERxqhcddmK06Nvalob0f4VuSnGFJNMobB-Mmido-np-13Z03dfzmgY4aIM9uBl_uz6dSNdFQRqVxr3MdMZN0k1UGa3IFY6M9qvSYEx88TVGcaBzNFU-i9EkqeIOfyYtZ5Umyy9hi-stbDVtg_sgAswYhlLnHK6PldZhGedILm6SZHlVogfBioSFcRDj3OnivliDIzPZCyJ7YclehB4cD-_MlwAbz44-JM4MAxkbezI6L_ieHykulI3_BB4crBhXuBXZFWv58eDz8JjWEgdIdIPtgscQoQJFTq8H75YMH6YiMzhjW86Dk5UErD_-_x9-__y_fICXoZVBFsUD2Op_L_AjWTn97JMV5X8sv_Mz priority: 102 providerName: ProQuest |
| Title | IKZF1 Loss-of-Function Variant Causes Autoimmunity and Severe Familial Antiphospholipid Syndrome |
| URI | https://link.springer.com/article/10.1007/s10875-019-00643-2 https://www.ncbi.nlm.nih.gov/pubmed/31089937 https://www.proquest.com/docview/2224741134 https://www.proquest.com/docview/2232014184 https://hal.science/hal-03406545 |
| Volume | 39 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV3da9RAEB9sC-KLtH7GtkcU33QhH7v5eIzhrqf9QNST05e4l0xooCSHyQn-987sJWmlKviQBDaT3TAzu_sbZmcG4CWnaHPQHHAIPSFR-iKKpRYRkgmE6DsYcIDz-UUwX8h3S7Xsg8La4bT74JI0K_WNYDfC1mT6xsLso4IW3j3Ftjtp8cJLxvWXlmRzcNELXZrK0utDZf7cx2_b0c4lH4a8jTRveUnN5jPbh_s9arSTrZgP4A7WD-Duee8Xfwjf3p5-nbn2GQ0hmlLMaLNihtufyRIm1tmp3rTY2smmayoTENL9tHVd2B-RNBltU_2i4gHqrlpfNi1dV9W6IoI-ocEjWMymn9K56GsniFyGqhORjrg0eu6XuZZkAPu5dsoiR0XScDT6ytUx5mW8UpgHoeS6fnlYrEpNeC9gnPUYduumxqdguxhx8kkds5NeSa29QsVIhm0QRHFZoAXuwMIs7xOLc32Lq-w6JTKzPSO2Z4btmWfBq_Gb9Tatxj-pX5BkRkLOiD1PzjJuc3zJ4bHqh2vB0SC4rJ-HbUboRxJmoh-34Pn4mmYQu0V0jc2GaYhRriRT14InW4GPQxH4jRjBWfB60IDrzv_-w8_-j_wQ7nlGJ1k1j2C3-77BY8I63WoCO-EypHuUuhPYS06-nE7p-WZ68f4DtaZBOjHK_wtuBfXz |
| linkProvider | Springer Nature |
| linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwtR3LbtNAcNSmEvSCeNdQYEFwghV-rF8HhEJplJCHELRVxcVs1mPVUmUH7ID6U3wjM46dCFX01oMPtte7q5nZeXheAC-5RJuNTYBD6EqFypNRrLSMkEwgRM_GgBOcp7NgeKw-nfqnW_Cny4XhsMqOJzaMOi0N_yN_S3JMkfRzPPV-8UNy1yj2rnYtNFZkMcaL32SyVe9GHwm_r1x3cHh0MJRtVwFpVOjXMtIRNw03Xma0ItPQM9rOUoM-7dPW6PmOjtFk8dxHE4SKO96ZMJ1nmjShgDUQmncbdpRHNz3Y-XA4-_xlzftJHDRBk27oEBtRbpum0ybrkW1ApnssGz1Auv-Iwu0zDsS8rOVe8tA2gm9wG261Gqvor0jsDmxhcRduTFuf_D34Php_GzhiQkvIMpMDEpSMbHFCVjihTRzoZYWV6C_rMm-SUeoLoYtUfEU6RSiazhs5L1DU-eKsrOg6zxc5DWiLKdyH42uB8APoFWWBeyAcjLjwpY45QMBXWrupHyMZ1UEQxVmKFjgdCBPTFjXn3hrnyaYcM4M9IbAnDdgT14LX628Wq5IeV45-QZhZD-Rq3MP-JOFntqc4Ndf_5Viw3yEuaXlAlWwo1oLn69d0etklowsslzyGAOUoMrMteLhC-HopUrwj1h4teNNRwGby_2_40dV7eQY3h0fTSTIZzcaPYddt6JHJch969c8lPiEdq54_bQlbEBFd81n6C380Mec |
| linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwtV1Lb9NAEB61Raq4IN4YCiwITrCqH-vXAaGoxUpIWiFBUcTFbNZj1VJlp7UD6l_j1zHj2I5QRW895JJMvKt57MznnQfAG27RZmOb4BC6UqHyZBQrLSMkCITo2RhwgfPRcTA-UZ_n_nwL_vS1MJxW2Z-J7UGdVYbfke-TH1Pk_RxP7eddWsSXw-Tj8lzyBCm-ae3HaaxVZIqXvwm-1R8mhyTrt66bfPp2MJbdhAFpVOg3MtIRDxA3Xm60IpjoGW3nmUGf9mxr9HxHx2jyeOGjCULF0-9MmC1yTVFRwNEIPXcbboVEyDYWzgewx46hTZ90Q4cOFOV2BTtd2R6hBALxsWwjAun-4xS3Tzkl82q8e-WutnWByV2408WuYrRWtnuwheV92D3qbucfwM_J9EfiiBktIatcJuQyWeziO-FxEqA40KsaazFaNVXRlqU0l0KXmfiKZE8o2hkcBS9QNsXytKrpc1YsCyLo2io8hJMb4e8j2CmrEp-AcDDiFpg65lQBX2ntZn6MBK-DIIrzDC1wehampmtvzlM2ztJNY2Zme0psT1u2p64F74b_LNfNPa6lfk2SGQi5L_d4NEv5O9tTXKTr_3Is2OsFl3anQZ1udNeCV8PPZMd8OaNLrFZMQ4xyFAFuCx6vBT4sRSF4xHGkBe97Ddg8_P8bfnr9Xl7CLllQOpscT5_BbbdVR9bKPdhpLlb4nIKtZvGi1WpBGnTDZvQXs9o0tw |
| 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=IKZF1+Loss-of-Function+Variant+Causes+Autoimmunity+and+Severe+Familial+Antiphospholipid+Syndrome&rft.jtitle=Journal+of+clinical+immunology&rft.au=Dieudonn%C3%A9%2C+Yannick&rft.au=Guffroy%2C+Aurelien&rft.au=Vollmer%2C+Olivier&rft.au=Carapito%2C+Rapha%C3%ABl&rft.date=2019-05-01&rft.pub=Springer+Verlag&rft.issn=0271-9142&rft.eissn=1573-2592&rft.volume=39&rft.issue=4&rft.spage=353&rft.epage=357&rft_id=info:doi/10.1007%2Fs10875-019-00643-2&rft.externalDBID=HAS_PDF_LINK&rft.externalDocID=oai_HAL_hal_03406545v1 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0271-9142&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0271-9142&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0271-9142&client=summon |