Article
Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment.
The Journal of allergy and clinical immunology - 1 Aug 2018
Ruiz-García Raquel, Vargas-Hernández Alexander, Chinn Ivan K, Angelo Laura S, Cao Tram N, Coban-Akdemir Zeynep, Jhangiani Shalini N, Meng Qingchang, Forbes Lisa R, Muzny Donna M, Allende Luis M, Ehlayel Mohammed S, Gibbs Richard A, Lupski James R, Uzel Gulbu, Orange Jordan S, Mace Emily M
Abstract excerpt
BACKGROUND: Heterozygous gain-of-function mutations in PI3K110δ lead to lymphadenopathy, lymphoid hyperplasia, EBV and cytomegalovirus viremia, and sinopulmonary infections. OBJECTIVE: The known role of natural killer (NK) cell function in the control of EBV and cytomegalovirus prompted us to investigate the functional and phenotypic effects of PI3K110δ mutations on NK cell subsets and cytotoxic function....
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