Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma

J Allergy Clin Immunol. 2016 Mar;137(3):948-51.e5. doi: 10.1016/j.jaci.2015.09.017. Epub 2015 Nov 3.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • B-Lymphocytes / immunology
  • B-Lymphocytes / metabolism
  • Biopsy
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Gene Expression
  • Granuloma / diagnosis*
  • Humans
  • Immunophenotyping
  • Janus Kinase 3 / genetics*
  • Janus Kinase 3 / metabolism
  • Mutation*
  • Severe Combined Immunodeficiency / diagnosis
  • Severe Combined Immunodeficiency / genetics*
  • Skin Diseases / diagnosis*
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism

Substances

  • Janus Kinase 3