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.

Phosphoinositide 3-kinase (PI3K) plays an integral role in lymphocyte function. Mutations in and , 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 and review the mechanisms underlying susceptibility to severe infection in activated PI3Kδ syndrome (APDS) and in other forms of primary immunodeficiency.