Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter

J Allergy Clin Immunol. 2016 Mar;137(3):940-2.e4. doi: 10.1016/j.jaci.2015.08.049. Epub 2015 Oct 31.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Binding Sites*
  • Child, Preschool
  • Common Variable Immunodeficiency / diagnosis
  • Common Variable Immunodeficiency / genetics*
  • Common Variable Immunodeficiency / metabolism
  • Humans
  • Interleukin Receptor Common gamma Subunit / genetics*
  • Killer Cells, Natural / metabolism*
  • Lymphopenia / diagnosis
  • Lymphopenia / genetics*
  • Lymphopenia / metabolism
  • Male
  • Mutation*
  • Promoter Regions, Genetic*
  • Protein Binding
  • Proto-Oncogene Proteins c-ets / metabolism

Substances

  • Interleukin Receptor Common gamma Subunit
  • Proto-Oncogene Proteins c-ets