| Reprogramming human T cell function and specificity with non-viral genome targeting TL Roth, C Puig-Saus, R Yu, E Shifrut, J Carnevale, PJ Li, J Hiatt, J Saco, ... Nature 559 (7714), 405-409, 2018 | 803 | 2018 |
| Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States A Kwan, RS Abraham, R Currier, A Brower, K Andruszewski, JK Abbott, ... Jama 312 (7), 729-738, 2014 | 739 | 2014 |
| 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 | 524 | 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 |
| Multisystem inflammatory syndrome in children and COVID-19 are distinct presentations of SARS–CoV-2 C Diorio, SE Henrickson, LA Vella, KO McNerney, J Chase, ... The Journal of clinical investigation 130 (11), 5967-5975, 2020 | 436 | 2020 |
| Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition SW Canna, C Girard, L Malle, A de Jesus, N Romberg, J Kelsen, ... Journal of Allergy and Clinical Immunology 139 (5), 1698-1701, 2017 | 348 | 2017 |
| 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 | 202 | 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 | 176 | 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 | 138 | 2019 |
| Germinal center responses to SARS-CoV-2 mRNA vaccines in healthy and immunocompromised individuals K Lederer, E Bettini, K Parvathaneni, MM Painter, D Agarwal, ... Cell 185 (6), 1008-1024. e15, 2022 | 132 | 2022 |
| NLRC4 inflammasomopathies N Romberg, TP Vogel, SW Canna Current opinion in allergy and clinical immunology 17 (6), 398-404, 2017 | 122 | 2017 |
| Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival N Romberg, H Morbach, MG Lawrence, S Kim, I Kang, SM Holland, ... Journal of Allergy and Clinical Immunology 131 (6), 1691-1693, 2013 | 95 | 2013 |
| 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 | 87 | 2020 |
| AIRE expression controls the peripheral selection of autoreactive B cells J Sng, B Ayoglu, JW Chen, JN Schickel, EMN Ferre, S Glauzy, ... Science immunology 4 (34), eaav6778, 2019 | 86 | 2019 |
| 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 | 58 | 2023 |
| Mapping effector genes at lupus GWAS loci using promoter Capture-C in follicular helper T cells C Su, ME Johnson, A Torres, RM Thomas, E Manduchi, P Sharma, ... Nature communications 11 (1), 3294, 2020 | 58 | 2020 |
| 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 |
| 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 |
| Prevalence and clinical challenges among adult primary immunodeficiency patients with RAG deficiency D Lawless, CB Geier, JR Farmer, HA Lango, D Thwaites, F Atschekzei, ... The Journal of allergy and clinical immunology 141 (6), 2303, 2018 | 40 | 2018 |
Carole Le CozChildren's hospital of Philadelphia在 email.chop.edu 的电子邮件经过验证
