Frontiers in Immunology (Feb 2019)

Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies

  • Djuro Karanovic,
  • Ian C. Michelow,
  • Anthony R. Hayward,
  • Suk See DeRavin,
  • Ottavia M. Delmonte,
  • Michael E. Grigg,
  • Adam Kerry Dobbs,
  • Julie E. Niemela,
  • Jennifer Stoddard,
  • Zaid Alhinai,
  • Natasha Rybak,
  • Nancy Hernandez,
  • Stefania Pittaluga,
  • Sergio D. Rosenzweig,
  • Gulbu Uzel,
  • Luigi D. Notarangelo

DOI
https://doi.org/10.3389/fimmu.2019.00077
Journal volume & issue
Vol. 10

Abstract

Read online

Phosphoinositide 3-kinase (PI3K) plays an integral role in lymphocyte function. Mutations in PIK3CD and PIK3R1, encoding the PI3K p110δ and p85α subunits, respectively, cause increased PI3K activity and result in immunodeficiency with immune dysregulation. We describe here the first cases of disseminated and congenital toxoplasmosis in a mother and child who share a pathogenic mutation in PIK3R1 and review the mechanisms underlying susceptibility to severe Toxoplasma gondii infection in activated PI3Kδ syndrome (APDS) and in other forms of primary immunodeficiency.

Keywords