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| Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation N Romberg, K Al Moussawi, C Nelson-Williams, AL Stiegler, E Loring, ... Nature genetics 46 (10), 1135-1139, 2014 | 526 | 2014 |
| Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions MJ Ombrello, EF Remmers, G Sun, AF Freeman, S Datta, P Torabi-Parizi, ... New England Journal of Medicine 366 (4), 330-338, 2012 | 443 | 2012 |
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| Germline hypomorphic CARD11 mutations in severe atopic disease CA Ma, JR Stinson, Y Zhang, JK Abbott, MA Weinreich, PJ Hauk, ... Nature genetics 49 (8), 1192-1201, 2017 | 205 | 2017 |
| CVID-associated TACI mutations affect autoreactive B cell selection and activation N Romberg, N Chamberlain, D Saadoun, M Gentile, T Kinnunen, YS Ng, ... The Journal of clinical investigation 123 (10), 4283-4293, 2013 | 177 | 2013 |
| Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease B Dorjbal, JR Stinson, CA Ma, MA Weinreich, B Miraghazadeh, ... Journal of Allergy and Clinical Immunology 143 (4), 1482-1495, 2019 | 139 | 2019 |
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| Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: a working group report of the Primary Immunodeficiency Diseases Committee of … IK Chinn, AY Chan, K Chen, J Chou, MJ Dorsey, J Hajjar, AM Jongco III, ... Journal of Allergy and Clinical Immunology 145 (1), 46-69, 2020 | 90 | 2020 |
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| Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses N Romberg, C Le Coz, S Glauzy, JN Schickel, M Trofa, BE Nolan, ... Journal of Allergy and Clinical Immunology 143 (1), 258-265, 2019 | 73 | 2019 |
| Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome JW Leiding, TP Vogel, VGJ Santarlas, R Mhaskar, MR Smith, A Carisey, ... Journal of allergy and clinical immunology 151 (4), 1081-1095, 2023 | 62 | 2023 |
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| Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients F Pala, H Morbach, MC Castiello, JN Schickel, S Scaramuzza, ... The Journal of clinical investigation 125 (10), 3941-3951, 2015 | 52 | 2015 |
| BTK inhibition limits B-cell–T-cell interaction through modulation of B-cell metabolism: implications for multiple sclerosis therapy R Li, H Tang, JC Burns, BT Hopkins, C Le Coz, B Zhang, IP de Barcelos, ... Acta neuropathologica 143 (4), 505-521, 2022 | 42 | 2022 |
| Constrained chromatin accessibility in PU. 1-mutated agammaglobulinemia patients C Le Coz, DN Nguyen, C Su, BE Nolan, AV Albrecht, S Xhani, D Sun, ... Journal of Experimental Medicine 218 (7), e20201750, 2021 | 41 | 2021 |
Carole Le CozChildren's hospital of Philadelphia在 email.chop.edu 的电子邮件经过验证
