Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4⁺ T cells.

ABSTRACT:

Background

Gain-of-function (GOF) mutations in PIK3CD cause a primary immunodeficiency characterized by recurrent respiratory tract infections, susceptibility to herpesvirus infections, and impaired antibody responses. Previous work revealed defects in CD8⁺ T and B cells that contribute to this clinical phenotype, but less is understood about the role of CD4⁺ T cells in disease pathogenesis.

Objective

We sought to dissect the effects of increased phosphoinositide 3-kinase (PI3K) signaling on CD4⁺ T-cell function.

Methods

We performed detailed ex vivo, in vivo, and in vitro phenotypic and functional analyses of patients' CD4⁺ T cells and a novel murine disease model caused by overactive PI3K signaling.

Results

PI3K ove

SUBMITTER: Bier J 

PROVIDER: S-EPMC6612302 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature