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Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function, and EBV immunity

Abstract

Germline gain-of function (GOF) mutations in PIK3CD, encoding the catalytic p110δ subunit of phosphatidylinositol-3 kinase, result in hyperactivation of the PI3K-AKT-mTOR pathway and underlie a novel inborn error of immunity. Affected individuals exhibit perturbed humoral and cellular immunity, manifesting as recurrent infections, autoimmunity, hepatosplenomegaly, uncontrolled EBV and/or CMV infection, and an increased incidence of B-cell lymphoproliferation and/or lymphoma. Mechanisms underlying disease pathogenesis remain unknown.

Type Journal
Authors ESJ Edwards, J Bier, T Cole, M Wong, P Hsu, LJ Berglund, K Boztug, E Gostick, DA Price, M OaSullivan, I Meyts, S Choo, P Gray, SM Holland, EK Deenick, G Uzel, SG Tangye.
Responsible Garvan Author Prof Stuart Tangye
Publisher Name JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Published Date 2019-01-01
Published Volume 143
Published Issue 1
Published Pages 276-291
Status Published in-print
DOI https://doi.org/10.1016/j.jaci.2018.04.030
URL link to publisher's version https://www.ncbi.nlm.nih.gov/pubmed/29800648