A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosis

J Allergy Clin Immunol. 2019 Aug;144(2):611-613.e3. doi: 10.1016/j.jaci.2019.05.008. Epub 2019 May 15.

Abstract

A novel STAT2 variant causing complete STAT2 protein abrogation presents with hemophagocytic lymphohistiocytosis (HLH). This is the first report of HLH in association with STAT2 deficiency.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Genetic Diseases, Inborn* / genetics
  • Genetic Diseases, Inborn* / immunology
  • Genetic Diseases, Inborn* / pathology
  • Homozygote*
  • Humans
  • Lymphohistiocytosis, Hemophagocytic* / genetics
  • Lymphohistiocytosis, Hemophagocytic* / immunology
  • Lymphohistiocytosis, Hemophagocytic* / pathology
  • Male
  • Mutation
  • STAT2 Transcription Factor* / genetics
  • STAT2 Transcription Factor* / immunology

Substances

  • STAT2 Transcription Factor
  • STAT2 protein, human