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Front. Immunol. | doi: 10.3389/fimmu.2019.00077

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

Djuro Karanovic1,  Ian C. Michelow2,  Anthony Hayward2, 3, Suk See DeRavin1,  Ottavia M. Delmonte1,  Michael E. Grigg4,  Kerry Dobbs1,  Julie E. Niemela5,  Jennifer Stoddard5,  Zaid Alhinai2, Natasha Ryback6, Nancy Hernandez2, 3, Stefania Pittaluga7,  Sergio D. Rosenzweig5, Gulbu Uzel1 and  Luigi D. Notarangelo1*
  • 1National Institute of Allergy and Infectious Diseases, National Institutes of Health, Laboratory of Clinical Immunology and Microbiology (NIAID), United States
  • 2Department of Pediatrics, Brown University, United States
  • 3Department of Pediatrics, Brown University, United States
  • 4Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases (NIH), United States
  • 5Department of Laboratory Medicine, NIH Clinical Center (CC), United States
  • 6Division of Infectious Diseases, Department of Medicine, Alpert Medical School, Brown University, United States
  • 7Center for Cancer Research (NCI), United States

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.

Keywords: Immunodeficiency - primary, Toxoplasmosis disease, APDS2, PIK3R1, PI3-kinase

Received: 18 Sep 2018; Accepted: 11 Jan 2019.

Edited by:

Sergey Nejentsev, University of Cambridge, United Kingdom

Reviewed by:

Pérsio Roxo-Junior, University of São Paulo, Brazil
Michel J. Massaad, American University of Beirut Medical Center, Lebanon  

Copyright: © 2019 Karanovic, Michelow, Hayward, DeRavin, Delmonte, Grigg, Dobbs, Niemela, Stoddard, Alhinai, Ryback, Hernandez, Pittaluga, Rosenzweig, Uzel and Notarangelo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Prof. Luigi D. Notarangelo, Laboratory of Clinical Immunology and Microbiology (NIAID), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, 02115, MA, United States,