IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

Human inborn errors of immunity mediated by the cytokines interleukin-17A and interleukin-17F (IL-17A/F) underlie mucocutaneous candidiasis, whereas inborn errors of interferon-γ (IFN-γ) immunity underlie mycobacterial disease. We report the discovery of bi-allelic RORC loss-of-function mutations in...

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Published in:	Science (American Association for the Advancement of Science) 2015-08, Vol.349 (6248), p.606
Main Authors:	Okada, Satoshi, Markle, Janet G, Deenick, Elissa K, Mele, Federico, Averbuch, Dina, Lagos, Macarena, Alzahrani, Mohammed, Al-Muhsen, Saleh, Halwani, Rabih, Ma, Cindy S, Wong, Natalie, Soudais, Claire, Henderson, Lauren A, Marzouqa, Hiyam, Shamma, Jamal, Gonzalez, Marcela, Martinez-Barricarte, Rubén, Okada, Chizuru, Avery, Danielle T, Latorre, Daniela, Deswarte, Caroline, Jabot-Hanin, Fabienne, Torrado, Egidio, Fountain, Jeffrey, Belkadi, Aziz, Itan, Yuval, Boisson, Bertrand, Migaud, Mélanie, Arlehamn, Cecilia S Lindestam, Sette, Alessandro, Breton, Sylvain, McCluskey, James, Rossjohn, Jamie, de Villartay, Jean-Pierre, Moshous, Despina, Hambleton, Sophie, Latour, Sylvain, Arkwright, Peter D, Picard, Capucine, Lantz, Olivier, Engelhard, Dan, Kobayashi, Masao, Abel, Laurent, Cooper, Andrea M, Notarangelo, Luigi D, Boisson-Dupuis, Stéphanie, Puel, Anne, Sallusto, Federica, Bustamante, Jacinta, Tangye, Stuart G, Casanova, Jean-Laurent
Format:	Article
Language:	English
Subjects:	Alleles Animals Candida albicans - immunology Candidiasis, Chronic Mucocutaneous - complications Candidiasis, Chronic Mucocutaneous - genetics Candidiasis, Chronic Mucocutaneous - immunology Cattle Child Child, Preschool DNA Mutational Analysis Exome - genetics Female Gene Rearrangement, alpha-Chain T-Cell Antigen Receptor Humans Immunity - genetics Interferon-gamma - immunology Interleukin-17 - immunology Mice Mutation Mycobacterium bovis - immunology Mycobacterium bovis - isolation & purification Mycobacterium tuberculosis - immunology Mycobacterium tuberculosis - isolation & purification Nuclear Receptor Subfamily 1, Group F, Member 3 - genetics Pedigree Receptors, Antigen, T-Cell, alpha-beta - genetics Receptors, Antigen, T-Cell, alpha-beta - immunology Receptors, Antigen, T-Cell, gamma-delta - genetics Receptors, Antigen, T-Cell, gamma-delta - immunology Severe Combined Immunodeficiency - genetics T-Lymphocytes - immunology Thymus Gland - abnormalities Thymus Gland - immunology Tuberculosis, Bovine - genetics Tuberculosis, Bovine - immunology Tuberculosis, Pulmonary - genetics Tuberculosis, Pulmonary - immunology
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