A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature

J Allergy Clin Immunol Pract. 2016 Jul-Aug;4(4):777-9. doi: 10.1016/j.jaip.2016.02.015. Epub 2016 Apr 23.
No abstract available

Publication types

  • Case Reports
  • Review

MeSH terms

  • Homozygote*
  • Humans
  • Infant
  • Inflammation / genetics*
  • Inflammation / therapy*
  • Loss of Function Mutation / genetics*
  • Male
  • STAT1 Transcription Factor / genetics*
  • Stem Cell Transplantation*

Substances

  • STAT1 Transcription Factor
  • STAT1 protein, human