Article
IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.
Science (New York, N.Y.) - 7 Aug 2015
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
Abstract excerpt
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 seven individuals from three kindreds of different ethnic origins with both candidiasis and mycobacteriosis. The...
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