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

Edwards, ESJ; Bier, J; Cole, TS; Wong, M; Hsu, P; Berglund, LJ; Boztug, K; Lau, A; Gostick, E; Price, DA; O'Sullivan, M; Meyts, I; Choo, S; Gray, P; Holland, SM; Deenick, EK; Uzel, G; Tangye, SG

Tangye, SG (reprint author), Garvan Inst Med Res, Div Immunol, 384 Victoria St, Darlinghurst, NSW 2010, Australia.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2019; 143 (1): 276

Abstract

Background: Germline gain-of function (GOF) mutations in PIK3CD, encoding the catalytic p110 delta subunit of phosphoinositide 3-kinase (PI3K), result......

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