Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1

PURPOSE: Loss and gain of function (GOF) mutations in human signal transducer and activator of transcription 1 (STAT1) lead to distinct phenotypes. Although recurrent infections are common to both types of STAT1 mutations, GOF mutations are distinguished by chronic mucocutaneous candidiasis and auto...

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Detalhes bibliográficos
Publicado no:J Clin Immunol
Main Authors: Baris, Safa, Alroqi, Fayhan, Kiykim, Ayca, Karakoc-Aydiner, Elif, Ogulur, Ismail, Ozen, Ahmet, Charbonnier, Louis-Marie, Bakιr, Mustafa, Boztug, Kaan, Chatila, Talal A., Barlan, Isil B.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5556363/
https://ncbi.nlm.nih.gov/pubmed/27379765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-016-0312-3
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