Role of DOCK8 in cytokine storm syndromes.

ABSTRACT:

Background

Cytokine storm syndromes (CSSs), including hemophagocytic lymphohistiocytosis (HLH), are increasingly recognized as hyperinflammatory states leading to multiorgan failure and death. Familial HLH in infancy results from homozygous genetic defects in perforin-mediated cytolysis by CD8 T lymphocytes and natural killer (NK) cells. Later-onset CSSs are often associated with heterozygous defects in familial HLH genes, but genetic etiologies for most are unknown. We identified rare dedicator of cytokinesis 8 (DOCK8) variants in patients with CSS.

Objective

We sought to explore the role of CSS patient-derived DOCK8 mutations on cytolytic activity in NK cells and to further study effects of DOCK8 deficiency in murine models of CSSs.

Methods

DOCK8 cDNAs from 2 unrela

SUBMITTER: Zhang M 

PROVIDER: S-EPMC11875994 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature