A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity

J Allergy Clin Immunol. 2011 Dec;128(6):1360-1363.e4. doi: 10.1016/j.jaci.2011.07.001. Epub 2011 Aug 9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • B-Lymphocytes / immunology
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Humans
  • Immunity, Humoral / genetics*
  • Immunity, Humoral / immunology
  • Immunologic Memory / genetics*
  • Immunologic Memory / immunology
  • Interleukin Receptor Common gamma Subunit / genetics*
  • Interleukin Receptor Common gamma Subunit / immunology
  • Lymphocyte Activation / genetics*
  • Lymphocyte Activation / immunology
  • Lymphocyte Count
  • Male
  • Mutation*
  • Pedigree
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / immunology
  • T-Lymphocytes / immunology

Substances

  • IL2RG protein, human
  • Interleukin Receptor Common gamma Subunit