A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation

Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency characterized by persistent or recurrent skin and mucosal surface infections with Candida species. Different gene mutations leading to CMC have been identified. These include various heterozygous gain-of-function (GOF) mutations i...

詳細記述

保存先:
書誌詳細
出版年:Front Immunol
主要な著者: Meesilpavikkai, Kornvalee, Dik, Willem A., Schrijver, Benjamin, Nagtzaam, Nicole M. A., van Rijswijk, Angelique, Driessen, Gertjan J., van der Spek, Peter J., van Hagen, P. Martin, Dalm, Virgil A. S. H.
フォーマット: Artigo
言語:Inglês
出版事項: Frontiers Media S.A. 2017
主題:
Immunology
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5346540/
https://ncbi.nlm.nih.gov/pubmed/28348565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2017.00274
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