Common Variable Immunodeficiency or Late-Onset Combined Immunodeficiency: A New Hypomorphic JAK3 Patient and Review of the Literature

J Investig Allergol Clin Immunol. 2015;25(3):218-20.
No abstract available

Publication types

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

MeSH terms

  • Age of Onset
  • Child, Preschool
  • Common Variable Immunodeficiency / diagnosis
  • Common Variable Immunodeficiency / enzymology
  • Common Variable Immunodeficiency / genetics*
  • Common Variable Immunodeficiency / immunology
  • DNA Mutational Analysis
  • Fatal Outcome
  • Genetic Predisposition to Disease
  • Humans
  • Immunologic Tests
  • Infant
  • Janus Kinase 3 / genetics*
  • Male
  • Mutation*
  • Phenotype
  • Predictive Value of Tests
  • Risk Factors
  • Severe Combined Immunodeficiency / diagnosis
  • Severe Combined Immunodeficiency / enzymology
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / immunology
  • T-Lymphocytes / enzymology
  • T-Lymphocytes / immunology
  • Time Factors

Substances

  • JAK3 protein, human
  • Janus Kinase 3