Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections

Clin Immunol. 2016 Dec:173:117-120. doi: 10.1016/j.clim.2016.09.011. Epub 2016 Sep 28.

Abstract

Antibody deficiencies can be caused by a variety of defects that interfere with B-cell development, maturation, and/or function. Using whole-exome sequencing we found a PIK3R1 mutation in a patient with hypogammaglobulinemia and a narrow clinical phenotype of respiratory infections. Early diagnosis is crucial; careful analysis of B and T-cells followed by genetic analyses may help to distinguish activated PI3K-delta syndrome (APDS) from other, less severe, predominantly antibody deficiencies.

Keywords: APDS; Antibody deficiency; Immunophenotyping; PIK3R1; Whole-exome sequencing.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Agammaglobulinemia / genetics*
  • Agammaglobulinemia / immunology
  • B-Lymphocytes / immunology
  • Child
  • Class Ia Phosphatidylinositol 3-Kinase
  • Female
  • Humans
  • Mutation
  • Phenotype
  • Phosphatidylinositol 3-Kinases / genetics*
  • Respiratory Tract Infections / genetics*
  • Respiratory Tract Infections / immunology
  • T-Lymphocytes / immunology

Substances

  • PIK3R1 protein, human
  • Class Ia Phosphatidylinositol 3-Kinase