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STAT1 Gain-of-Function and Dominant Negative STAT3 Mutations Impair IL-17 and IL-22 Immunity Associated with CMC.

The Journal of investigative dermatology(2017)

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摘要
Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent Candida albicans infections associated with an impaired IL-17 and IL-22 response (Puel et al., 2012). Several monogenetic defects have been identified to cause CMC (Ling et al., 2015; Puel et al., 2012), but the most frequent CMC form is a result of heterozygous autosomal dominant gain-of-function mutations in signal transducer and activator of transcription (STAT) 1 (Liu et al., 2011; Toubiana et al., 2016). There are also syndromic CMC entities, such as autosomal dominant hyper-IgE syndrome (HIES) (Hagl et al., 2016; Schimke et al., 2010).
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