A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency

J Allergy Clin Immunol. 2019 Apr;143(4):1649-1653.e3. doi: 10.1016/j.jaci.2019.01.001. Epub 2019 Jan 14.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology*
  • Male
  • Mutation, Missense
  • Pedigree
  • RAC2 GTP-Binding Protein
  • rac GTP-Binding Proteins / genetics*

Substances

  • rac GTP-Binding Proteins