Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment
R Ruiz-García, A Vargas-Hernández, IK Chinn… - Journal of Allergy and …, 2018 - Elsevier
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.
Methods Mutations in patients were identified by using whole-exome or targeted …
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.
Methods Mutations in patients were identified by using whole-exome or targeted …