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

TITLE=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

JOURNAL=Frontiers in Immunology

VOLUME=10

YEAR=2019

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2019.00077

DOI=10.3389/fimmu.2019.00077

ISSN=1664-3224

ABSTRACT=<p>Phosphoinositide 3-kinase (PI3K) plays an integral role in lymphocyte function. Mutations in <italic>PIK3CD</italic> and <italic>PIK3R1</italic>, 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 <italic>PIK3R1</italic> and review the mechanisms underlying susceptibility to severe <italic>Toxoplasma gondii</italic> infection in activated PI3Kδ syndrome (APDS) and in other forms of primary immunodeficiency.</p>