A novel germline gain-of-function variant in PIK3CD

Clin Immunol. 2017 Aug:181:29-31. doi: 10.1016/j.clim.2017.05.020. Epub 2017 May 31.
No abstract available

Keywords: Activated phosphoinositide 3-kinase δ syndrome; PI3Kδ; PIK3CD; Primary immunodeficiency.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Class I Phosphatidylinositol 3-Kinases / genetics*
  • Female
  • Gain of Function Mutation
  • Germ-Line Mutation
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Middle Aged

Substances

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