Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.

ABSTRACT:

Background

Although most individuals effectively control herpesvirus infections, some suffer from severe and/or recurrent infections. A subset of these patients possess defects in natural killer (NK) cells, lymphocytes that recognize and lyse herpesvirus-infected cells; however, the genetic etiology is rarely diagnosed. PLCG2 encodes a signaling protein in NK-cell and B-cell signaling. Dominant-negative or gain-of-function variants in PLCG2 cause cold urticaria, antibody deficiency, and autoinflammation. However, loss-of-function variants and haploinsufficiency have not been reported to date.

Objectives

The investigators aimed to identify the genetic cause of NK-cell immunodeficiency in 2 families and herein describe the functional consequences of 2 novel loss-of-function va

SUBMITTER: Alinger JB 

PROVIDER: S-EPMC11389843 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature