Inflammatory bowel disease and mutations affecting the interleukin-10 receptor EO Glocker, D Kotlarz, K Boztug, EM Gertz, AA Schäffer, F Noyan, M Perro, ... New England Journal of Medicine 361 (21), 2033-2045, 2009 | 1709 | 2009 |
STAT3 Mutations in the Hyper-IgE Syndrome SM Holland, FR DeLeo, HZ Elloumi, AP Hsu, G Uzel, N Brodsky, ... New England Journal of Medicine 357 (16), 1608-1619, 2007 | 1428 | 2007 |
Common variable immunodeficiency disorders: division into distinct clinical phenotypes H Chapel, M Lucas, M Lee, J Bjorkander, D Webster, B Grimbacher, ... Blood, The Journal of the American Society of Hematology 112 (2), 277-286, 2008 | 992 | 2008 |
B-cell biology and development K Pieper, B Grimbacher, H Eibel Journal of Allergy and Clinical Immunology 131 (4), 959-971, 2013 | 976 | 2013 |
Hyper-IgE syndrome with recurrent infections—an autosomal dominant multisystem disorder B Grimbacher, SM Holland, JI Gallin, F Greenberg, SC Hill, HL Malech, ... New England Journal of Medicine 340 (9), 692-702, 1999 | 971 | 1999 |
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency B Grimbacher, A Hutloff, M Schlesier, E Glocker, K Warnatz, R Dräger, ... Nature immunology 4 (3), 261-268, 2003 | 901 | 2003 |
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations D Schubert, C Bode, R Kenefeck, TZ Hou, JB Wing, A Kennedy, ... Nature medicine 20 (12), 1410-1416, 2014 | 896 | 2014 |
A Homozygous CARD9 Mutation in a Family with Susceptibility to Fungal Infections EO Glocker, A Hennigs, M Nabavi, AA Schäffer, C Woellner, U Salzer, ... New England Journal of Medicine 361 (18), 1727-1735, 2009 | 896 | 2009 |
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans U Salzer, HM Chapel, ADB Webster, Q Pan-Hammarström, ... Nature genetics 37 (8), 820-828, 2005 | 803 | 2005 |
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3 CS Ma, GYJ Chew, N Simpson, A Priyadarshi, M Wong, B Grimbacher, ... The Journal of experimental medicine 205 (7), 1551-1557, 2008 | 786 | 2008 |
Clinical picture and treatment of 2212 patients with common variable immunodeficiency B Gathmann, N Mahlaoui, L Gérard, E Oksenhendler, K Warnatz, ... Journal of Allergy and Clinical Immunology 134 (1), 116-126. e11, 2014 | 670 | 2014 |
An Antibody-Deficiency Syndrome Due to Mutations in the CD19 Gene MC Van Zelm, I Reisli, M Van Der Burg, D Castaño, CJM Van Noesel, ... New England Journal of Medicine 354 (18), 1901-1912, 2006 | 650 | 2006 |
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome KR Engelhardt, S McGhee, S Winkler, A Sassi, C Woellner, ... Journal of Allergy and Clinical Immunology 124 (6), 1289-1302. e4, 2009 | 597 | 2009 |
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease) C Klein, M Grudzien, G Appaswamy, M Germeshausen, I Sandrock, ... Nature genetics 39 (1), 86-92, 2007 | 596 | 2007 |
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: a large patient cohort study TI Coulter, A Chandra, CM Bacon, J Babar, J Curtis, N Screaton, ... Journal of Allergy and Clinical Immunology 139 (2), 597-606. e4, 2017 | 576 | 2017 |
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity G Lopez-Herrera, G Tampella, Q Pan-Hammarström, P Herholz, ... The American Journal of Human Genetics 90 (6), 986-1001, 2012 | 575 | 2012 |
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 | 546 | 2012 |
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype J Toubiana, S Okada, J Hiller, M Oleastro, M Lagos Gomez, ... Blood, The Journal of the American Society of Hematology 127 (25), 3154-3164, 2016 | 524 | 2016 |
The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity MG Seidel, G Kindle, B Gathmann, I Quinti, M Buckland, J van Montfrans, ... The Journal of Allergy and Clinical Immunology: In Practice 7 (6), 1763-1770, 2019 | 522 | 2019 |
ICOS deficiency is associated with a severe reduction of CXCR5+ CD4 germinal center Th cells L Bossaller, J Burger, R Draeger, B Grimbacher, R Knoth, A Plebani, ... The Journal of Immunology 177 (7), 4927-4932, 2006 | 504 | 2006 |