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

Okada, Satoshi; Markle, Janet; K. Deenick, Elissa; Mele, Federico; Averbuch, Diana; Lagos, Macarena; Alzahrani, Mohammed; Al‐Muhsen, Saleh; Halwani, Rabih; Cindy, S.; Wong, Natalie; Soudais, Claire; A. Henderson, Lauren; Marzouqa, Hiyam; Shamma, Jamal; González, Marcela; Martínez‐Barricarte, Rubén; Okada, Chizuru; T. Avery, Danielle; Latorre, Daniela; Deswarte, Caroline; Jabot‐Hanin, Fabienne; Torrado, Egídio; J. Fountain, Jeffrey; Belkadi, Aziz; Itan, Yuval; Boisson, Bertrand; Migaud, Mélanie; S. Lindestam Arlehamn, Cecilia; Sette, Alessandro; Breton, Sylvain; McCluskey, James; Rossjohn, Jamie; de Villartay, Jean‐Pierre; Moshous, Despina; Hambleton, Sophie; Latour, Sylvain; D. Arkwright, Peter; Pïcard, Capucine; Lantz, Olivier; Engelhard, Dan; Kobayashi, Masao; Abel, Laurent; M. Cooper, Andrea; D. Notarangelo, Luigi; Boisson‐Dupuis, Stéphanie; Puel, Anne; Sallusto, Federica; Bustamante, Jacinta; G. Tangye, Stuart; Casanova, Jean‐Laurent

doi:10.1126/science.aaa4282

Public

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

Published in Science • Jul 9, 2015

Authors:

Satoshi Okada

Janet Markle

Elissa K. Deenick

Abstract

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...

Subject

RAR-related orphan receptor gamma

Immune system

Immunity

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