Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea

Blood. 2017 Feb 2;129(5):650-653. doi: 10.1182/blood-2016-09-737817. Epub 2016 Dec 12.
No abstract available

Publication types

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

MeSH terms

  • Age of Onset
  • Child, Preschool
  • Dermatitis / genetics
  • Dermatitis / immunology
  • Diarrhea / genetics
  • Eosinophilia / blood
  • Eosinophilia / genetics*
  • Eosinophilia / immunology
  • Female
  • Humans
  • Mutation*
  • Polymorphism, Single Nucleotide
  • STAT5 Transcription Factor / genetics*
  • STAT5 Transcription Factor / immunology
  • Syndrome
  • T-Lymphocytes / immunology
  • Urticaria / genetics*
  • Urticaria / immunology
  • Urticaria / pathology

Substances

  • STAT5 Transcription Factor
  • STAT5B protein, human