Genetic Defects in Phosphoinositide 3-Kinase δ Influence CD8⁺ T Cell Survival, Differentiation, and Function.

ABSTRACT: Activated phosphoinositide 3-kinase delta syndrome (APDS), also known as p110 delta-activating mutation causing senescent T cells, lymphadenopathy and immunodeficiency (PASLI), is an autosomal dominant primary human immunodeficiency (PID) caused by heterozygous gain-of-function mutations in PIK3CD, which encodes the p110δ catalytic subunit of PI3K. This recently described PID is characterized by diverse and heterogeneous clinical manifestations that include recurrent respiratory infections, lymphoproliferation, progressive lymphopenia, and defective antibody responses. A major clinical manifestation observed in the NIH cohort of patients with PIK3CD mutations is chronic Epstein-Barr virus (EBV) and/or cytomegalovirus viremia. Despite uncontrolled EBV infection, many APDS/PASL

SUBMITTER: Cannons JL 

PROVIDER: S-EPMC6082933 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature