Article
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.
Journal of immunology (Baltimore, Md. : 1950) - 1 Aug 2012
Takezaki Shunichiro, Yamada Masafumi, Kato Masahiko, Park Myoung-Ja, Maruyama Kenichi, Yamazaki Yasuhiro, Chida Natsuko, Ohara Osamu, Kobayashi Ichiro, Ariga Tadashi
Abstract excerpt
Chronic mucocutaneous candidiasis (CMC) is a heterogeneous group of primary immunodeficiency diseases characterized by chronic and recurrent Candida infections of the skin, nails, and oropharynx. Gain-of-function mutations in STAT1 were very recently shown to be responsible for autosomal-dominant or sporadic cases of CMC. The reported mutations have been exclusively localized in the coiled-coil domain, resulting...
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