Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
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Author / Creator
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. and Casanova, Jean-Laurent
Publisher
Washington: American Association for the Advancement of Science
Journal title
Language
English
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Publication information
Publisher
Washington: American Association for the Advancement of Science
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More information
Scope and Contents
Contents
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 differen...
Alternative Titles
Full title
Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4668938
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4668938
Other Identifiers
ISSN
0036-8075
E-ISSN
1095-9203
DOI
10.1126/science.aaa4282
