Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.

@article{Takezaki2012ChronicMC,
  title={Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.},
  author={Shunichiro Takezaki and Masafumi D Yamada and Masahiko Kato and Myoung-ja Park and Kenichi Maruyama and Yasuhiro Yamazaki and Natsuko Chida and Osamu Ohara and Ichiro Kobayashi and Tadashi Ariga},
  journal={Journal of immunology},
  year={2012},
  volume={189 3},
  pages={1521-6}
}
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 in impaired dephosphorylation of STAT1. However, recent crystallographic analysis… CONTINUE READING