A biallelic ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis

Patients with inborn errors of IL-17F or IL-17RA display chronic mucocutaneous candidiasis (CMC). We report a biallelic missense mutation (T536I) in the adaptor molecule ACT1 in two siblings with CMC. The mutation, located in the SEFIR domain, abolished the homotypic interaction of ACT1 with IL-17 r...

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Autores principales: Boisson, Bertrand, Wang, Chenhui, Pedergnana, Vincent, Wu, Ling, Cypowyj, Sophie, Rybojad, Michel, Belkadi, Aziz, Picard, Capucine, Abel, Laurent, Fieschi, Claire, Puel, Anne, Li, Xiaoxia, Casanova, Jean-Laurent
Formato: Artigo
Lenguaje:Inglês
Publicado: 2013
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3873857/
https://ncbi.nlm.nih.gov/pubmed/24120361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.immuni.2013.09.002
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