Reliable genetic diagnosis of <i>NCF1</i> (p47^phox)-deficient chronic granulomatous disease using high-throughput sequencing.

ABSTRACT:

Introduction

Chronic granulomatous disease is caused by mutations in any of the 6 components of the phagocytic NADPH oxidase complex including gp91^phox, p47^phox, p22^phox, p40^phox, p67^phox, or EROS. Functional assays include reactive oxygen species (ROS) production, flow cytometry, and immunoblotting for NADPH proteins. The advent of high-throughput sequencing allows genetic diagnosis for all components except NCF1 (p47^phox) due to two, nearly identical, pseudogenes (NCF1B, NCF1C). The majority of NCF1-CGD patients carry a 2-base deletion caused by crossover between NCF1 and NCF1B or NCF1C. Currently, NCF1 deficiency is diagnosed functionally: a characteristic DHR with low lev

SUBMITTER: Hsu AP 

PROVIDER: S-EPMC12418599 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature