Novel STAT1 gain-of-function mutation and suppurative infections

Pediatr Allergy Immunol. 2016 Mar;27(2):220-3. doi: 10.1111/pai.12496. Epub 2015 Dec 15.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • CD4-Positive T-Lymphocytes / physiology*
  • Candidiasis, Chronic Mucocutaneous / drug therapy
  • Candidiasis, Chronic Mucocutaneous / genetics*
  • Cells, Cultured
  • Child
  • DNA Mutational Analysis
  • Fluconazole / therapeutic use
  • Herpesviridae Infections / drug therapy
  • Herpesviridae Infections / genetics*
  • Humans
  • Interferon-gamma / metabolism
  • Lymphocyte Activation / genetics
  • Male
  • Mutation / genetics*
  • Pedigree
  • STAT1 Transcription Factor / genetics*

Substances

  • STAT1 Transcription Factor
  • STAT1 protein, human
  • Interferon-gamma
  • Fluconazole