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

ESJ Edwards, J Bier, TS Cole, M Wong, P Hsu… - Journal of Allergy and …, 2019 - Elsevier
Background Germline gain-of function (GOF) mutations in PIK3CD, encoding the catalytic
p110δ subunit of phosphoinositide 3-kinase (PI3K), result in hyperactivation of the PI3K–
AKT–mechanistic target of rapamycin pathway and underlie a novel inborn error of
immunity. Affected subjects exhibit perturbed humoral and cellular immunity, manifesting as
recurrent infections, autoimmunity, hepatosplenomegaly, uncontrolled EBV and/or
cytomegalovirus infection, and increased incidence of B-cell lymphoproliferation, lymphoma …