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=Volume 10 - 2019

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=Phosphoinositide 3-kinase (PI3K) plays an integral role in lymphocyte function. Mutations in PIK3CD and PIK3R1, encoding the PI3K p110 and p85 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 T. gondii infection in activated PI3K syndrome (APDS) and in other forms of primary immunodeficiency.