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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 |
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 |
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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 |
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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 | 594 | 2007 |
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 |
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 | 570 | 2017 |
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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 | 503 | 2006 |