Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.

ABSTRACT:

Background

Mutations in lysosomal trafficking regulator (LYST) cause Chediak-Higashi syndrome (CHS), a rare immunodeficiency with impaired cytotoxic lymphocyte function, mainly that of natural killer (NK) cells. Our understanding of NK cell function deficiency in patients with CHS and how LYST regulates lytic granule exocytosis is very limited.

Objective

We sought to delineate cellular defects associated with LYST mutations responsible for the impaired NK cell function seen in patients with CHS.

Methods

We analyzed NK cells from patients with CHS with missense mutations in the LYST ARM/HEAT (armadillo/huntingtin, elongation factor 3, protein phosphatase 2A, and the yeast kinase TOR1) or BEACH (beige and Chediak-Higashi) domains.

Results

NK cells from patients w

SUBMITTER: Gil-Krzewska A 

PROVIDER: S-EPMC4826811 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature