RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency

J Allergy Clin Immunol. 2015 May;135(5):1380-4.e1-5. doi: 10.1016/j.jaci.2014.10.039. Epub 2014 Dec 12.

Abstract

We report the first patients with a homozygous loss of function mutation in the RAC2 gene, presenting with clinical features of common variable immunodeficiency. In addition, the patients suffered from glomerulonephritis, coagulopathy, multiple hormone deficiencies potentially on the autoimmune basis and abnormalities of neutrophil granules.

Publication types

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

MeSH terms

  • Child
  • Common Variable Immunodeficiency / diagnosis*
  • Common Variable Immunodeficiency / genetics*
  • DNA Mutational Analysis
  • Female
  • Genotype
  • Humans
  • Infant
  • Male
  • Mutation*
  • Neutrophils / ultrastructure
  • Pedigree
  • Siblings
  • rac GTP-Binding Proteins / genetics*
  • rac GTP-Binding Proteins / metabolism

Substances

  • rac2 GTP-binding protein
  • rac GTP-Binding Proteins