A novel STAT1 mutation associated with disseminated mycobacterial disease

J Clin Immunol. 2012 Aug;32(4):681-689. doi: 10.1007/s10875-012-9659-2. Epub 2012 Feb 29.

Abstract

STAT1 is a key component of Interferon (IFN)-γ and IFN-α signaling and mediates protection against mycobacteria, fungal, viral infections, and cancer. Dominant negative inhibitory as well as gain of function heterozygous STAT1 mutations demonstrate that IFN-γ driven cellular responses need to be tightly regulated to control infections. We describe an autosomal dominant mutation in the SH2 domain of STAT1 that disrupts protein phosphorylation, c.1961T>A (M654K). The mutant allele does not permit STAT1 phosphorylation, and impairs STAT1 phosphorylation of the wild type allele. Protein dimerization is preserved but DNA binding activity, IFN-γ driven GAS-luciferase activity, and expression of IFN-γ target genes are reduced. IFN-α driven ISRE response, but not IFN-α driven GAS response, are preserved when cells are co-transfected with wild type and the mutant STAT1 constructs. M654K exerts a dominant negative effect on IFN-γ related immunity and is recessive for IFN-α induced immune function.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • B-Lymphocytes
  • Cell Line
  • Child, Preschool
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism
  • Humans
  • Interferon-alpha / genetics
  • Interferon-alpha / metabolism
  • Interferon-gamma / genetics
  • Interferon-gamma / metabolism
  • Male
  • Mutation
  • Mycobacterium Infections, Nontuberculous / genetics*
  • Mycobacterium Infections, Nontuberculous / microbiology
  • Mycobacterium avium Complex / pathogenicity*
  • Phosphorylation
  • Protein Multimerization
  • STAT1 Transcription Factor / genetics*
  • STAT1 Transcription Factor / metabolism
  • Signal Transduction / genetics

Substances

  • DNA-Binding Proteins
  • Interferon-alpha
  • STAT1 Transcription Factor
  • STAT1 protein, human
  • Interferon-gamma