IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.
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ABSTRACT:
SUBMITTER: Okada S
PROVIDER: S-EPMC4668938 | biostudies-literature | 2015 Aug
REPOSITORIES: biostudies-literature
Publications
IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.
Okada Satoshi S Markle Janet G JG Deenick Elissa K EK Mele Federico F Averbuch Dina D Lagos Macarena M Alzahrani Mohammed M Al-Muhsen Saleh S Halwani Rabih R Ma Cindy S CS Wong Natalie N Soudais Claire C Henderson Lauren A LA Marzouqa Hiyam H Shamma Jamal J Gonzalez Marcela M Martinez-Barricarte Rubén R Okada Chizuru C Avery Danielle T DT Latorre Daniela D Deswarte Caroline C Jabot-Hanin Fabienne F Torrado Egidio E Fountain Jeffrey J Belkadi Aziz A Itan Yuval Y Boisson Bertrand B Migaud Mélanie M Arlehamn Cecilia S Lindestam CSL Sette Alessandro A Breton Sylvain S McCluskey James J Rossjohn Jamie J de Villartay Jean-Pierre JP Moshous Despina D Hambleton Sophie S Latour Sylvain S Arkwright Peter D PD Picard Capucine C Lantz Olivier O Engelhard Dan D Kobayashi Masao M Abel Laurent L Cooper Andrea M AM Notarangelo Luigi D LD Boisson-Dupuis Stéphanie S Puel Anne A Sallusto Federica F Bustamante Jacinta J Tangye Stuart G SG Casanova Jean-Laurent JL
Science (New York, N.Y.) 20150709 6248
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 lack of functional RORγ and RORγT isoforms resulted in the absence of IL-17A/F-produci ...[more]
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