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

J Immunol. 2012 Aug 1;189(3):1521-6. doi: 10.4049/jimmunol.1200926. Epub 2012 Jun 22.

Abstract

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 and direct mutagenesis experiments indicate that mutations affecting the DNA-binding domain of STAT1 could also lead to persistent phosphorylation of STAT1. To our knowledge, this study shows for the first time that a DNA-binding domain mutation of c.1153C>T in exon 14 (p.T385M) is the genetic cause of sporadic CMC in two unrelated Japanese patients. The underlying mechanisms involve a gain of STAT1 function due to impaired dephosphorylation as observed in the coiled-coil domain mutations.

Publication types

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

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Asian People
  • Candidiasis, Chronic Mucocutaneous / genetics*
  • Candidiasis, Chronic Mucocutaneous / immunology*
  • Candidiasis, Chronic Mucocutaneous / metabolism
  • Cell Line, Transformed
  • Child
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation / genetics
  • Mutation / immunology*
  • Phosphorylation / genetics
  • Phosphorylation / immunology
  • Protein Structure, Tertiary / genetics
  • STAT1 Transcription Factor / genetics*

Substances

  • DNA-Binding Proteins
  • STAT1 Transcription Factor
  • STAT1 protein, human