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International union of immunological societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity C Picard, H Bobby Gaspar, W Al-Herz, A Bousfiha, JL Casanova, ... Journal of clinical immunology 38, 96-128, 2018 | 924 | 2018 |
Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015 C Picard, W Al-Herz, A Bousfiha, JL Casanova, T Chatila, ME Conley, ... Journal of clinical immunology 35, 696-726, 2015 | 858 | 2015 |
Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification A Bousfiha, L Jeddane, C Picard, W Al-Herz, F Ailal, T Chatila, ... Journal of clinical immunology 40, 66-81, 2020 | 728 | 2020 |
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency W Al-Herz, A Bousfiha, JL Casanova, T Chatila, ME Conley, ... Frontiers in immunology 5, 162, 2014 | 689 | 2014 |
Gene therapy for Wiskott-Aldrich syndrome—long-term efficacy and genotoxicity CJ Braun, K Boztug, A Paruzynski, M Witzel, A Schwarzer, M Rothe, ... Science translational medicine 6 (227), 227ra33-227ra33, 2014 | 621 | 2014 |
The 2017 IUIS phenotypic classification for primary immunodeficiencies A Bousfiha, L Jeddane, C Picard, F Ailal, H Bobby Gaspar, W Al-Herz, ... Journal of clinical immunology 38, 129-143, 2018 | 615 | 2018 |
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency W Al-Herz, A Bousfiha, JL Casanova, H Chapel, ME Conley, ... Frontiers in immunology 2, 54, 2011 | 563 | 2011 |
Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy D Kotlarz, R Beier, D Murugan, J Diestelhorst, O Jensen, K Boztug, ... Gastroenterology 143 (2), 347-355, 2012 | 528 | 2012 |
The 2015 IUIS phenotypic classification for primary immunodeficiencies A Bousfiha, L Jeddane, W Al-Herz, F Ailal, JL Casanova, T Chatila, ... Journal of clinical immunology 35, 727-738, 2015 | 304 | 2015 |
DOCK8 deficiency: clinical and immunological phenotype and treatment options-a review of 136 patients SE Aydin, SS Kilic, C Aytekin, A Kumar, O Porras, L Kainulainen, ... Journal of clinical immunology 35, 189-198, 2015 | 292 | 2015 |
BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies BE Marciano, CY Huang, G Joshi, N Rezaei, BC Carvalho, Z Allwood, ... Journal of allergy and clinical immunology 133 (4), 1134-1141, 2014 | 274 | 2014 |
Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia B Boisson, E Laplantine, K Dobbs, A Cobat, N Tarantino, M Hazen, ... Journal of Experimental Medicine 212 (6), 939-951, 2015 | 252 | 2015 |
DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation HH Jabara, DR McDonald, E Janssen, MJ Massaad, N Ramesh, ... Nature immunology 13 (6), 612-620, 2012 | 241 | 2012 |
The 2022 update of IUIS phenotypical classification for human inborn errors of immunity A Bousfiha, A Moundir, SG Tangye, C Picard, L Jeddane, W Al-Herz, ... Journal of clinical immunology 42 (7), 1508-1520, 2022 | 228 | 2022 |
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency HH Jabara, SE Boyden, J Chou, N Ramesh, MJ Massaad, H Benson, ... Nature genetics 48 (1), 74-78, 2016 | 222 | 2016 |
The ever-increasing array of novel inborn errors of immunity: an interim update by the IUIS committee SG Tangye, W Al-Herz, A Bousfiha, C Cunningham-Rundles, JL Franco, ... Journal of clinical immunology 41, 666-679, 2021 | 214 | 2021 |
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency KR Engelhardt, ME Gertz, S Keles, AA Schäffer, EC Sigmund, C Glocker, ... Journal of Allergy and Clinical Immunology 136 (2), 402-412, 2015 | 195 | 2015 |
Inherited DOCK2 deficiency in patients with early-onset invasive infections K Dobbs, C Domínguez Conde, SY Zhang, S Parolini, M Audry, J Chou, ... New England Journal of Medicine 372 (25), 2409-2422, 2015 | 192 | 2015 |
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis SFN Bode, S Ammann, W Al-Herz, M Bataneant, CC Dvorak, S Gehring, ... Haematologica 100 (7), 978, 2015 | 177 | 2015 |