Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients.

ABSTRACT:

Background

Chronic Granulomatous Disease (CGD) is a primary immunodeficiency that causes susceptibility to recurrent fungal and bacterial infections. The CYBB gene encodes gp91^phox component of the Phagocytic Nicotinamide adenine dinucleotide phosphate (NADPH) oxidase and specifically, X-linked CGD is caused by mutations in the CYBB gene, located on the X chromosome. The aim of the study was to characterize functional and genetic mutations in X-linked CGD.

Methods

Functional analysis was conducted on the whole blood of seventeen male individuals who were suspected to have X-linked chronic granulomatous disease (CGD). Flow cytometry was employed to assess the capacity of NADPH oxidase, measuring both H₂O₂ production and gp91^phox pro

SUBMITTER: Gul I 

PROVIDER: S-EPMC10399011 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature