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

Front Immunol. 2019 Feb 14:10:77. doi: 10.3389/fimmu.2019.00077. eCollection 2019.

Abstract

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: APDS2; PI3K; PI3K3R1; immunodeficiency; toxoplasmosis.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Adult
  • Antibodies, Protozoan / blood
  • Child
  • Class I Phosphatidylinositol 3-Kinases / genetics*
  • Class Ia Phosphatidylinositol 3-Kinase / genetics*
  • Female
  • Humans
  • Immunity, Maternally-Acquired
  • Immunologic Deficiency Syndromes / diagnosis
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / immunology*
  • Infant
  • Lymphadenopathy
  • Mothers
  • Mutation / genetics*
  • Phenotype
  • Toxoplasma / physiology*
  • Toxoplasmosis, Congenital / diagnosis
  • Toxoplasmosis, Congenital / genetics
  • Toxoplasmosis, Congenital / immunology*

Substances

  • Antibodies, Protozoan
  • PIK3R1 protein, human
  • Class I Phosphatidylinositol 3-Kinases
  • Class Ia Phosphatidylinositol 3-Kinase
  • PIK3CD protein, human