Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding

J Allergy Clin Immunol. 2014 Nov;134(5):1209-13.e6. doi: 10.1016/j.jaci.2014.05.044. Epub 2014 Jul 18.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Candidiasis, Chronic Mucocutaneous / genetics*
  • Candidiasis, Chronic Mucocutaneous / pathology
  • Dental Enamel / abnormalities*
  • Humans
  • Male
  • Mutation*
  • STAT1 Transcription Factor / genetics*
  • Tooth Abnormalities / genetics*
  • Tooth Abnormalities / pathology

Substances

  • STAT1 Transcription Factor
  • STAT1 protein, human