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

Anita Chandra, Fang Zhang, Kimberly C Gilmour, David Webster, Vincent Plagnol, Dinakantha S Kumararatne, Siobhan O Burns, Sergey Nejentsev, Adrian J Thrasher

Research output: Contribution to journalArticleAcademicpeer-review

13 Citations (Scopus)
Original languageEnglish
Pages (from-to)940-2.e4
JournalJournal of allergy and clinical immunology
Issue number3
Publication statusPublished - Mar 2016
Externally publishedYes


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

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