Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant

J Allergy Clin Immunol. 2019 Feb;143(2):797-799.e2. doi: 10.1016/j.jaci.2018.10.005. Epub 2018 Oct 16.

Abstract

This case demonstrates the essential contribution of the p110δ catalytic 21 domain in adaptive immunity function in a patient with expression of a kinase-dead p110δ mutant.

Publication types

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

MeSH terms

  • Adaptive Immunity
  • Antibody Formation
  • Cells, Cultured
  • Child
  • Class I Phosphatidylinositol 3-Kinases / genetics*
  • Consanguinity
  • Exome Sequencing
  • Fatal Outcome
  • Humans
  • Male
  • Mutation / genetics*
  • Pakistan
  • Pedigree
  • Primary Immunodeficiency Diseases / genetics*
  • Sepsis / genetics*
  • Signal Transduction
  • T-Lymphocytes / metabolism*

Substances

  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CD protein, human