Ontology highlight
ABSTRACT:
SUBMITTER: Watkins CE
PROVIDER: S-EPMC3267648 | biostudies-literature | 2011 Nov
REPOSITORIES: biostudies-literature
Clinical and molecular allergy : CMA 20111123
Chronic Granulomatous Disease (CGD), a disorder of the NADPH oxidase system, results in phagocyte functional defects and subsequent infections with bacterial and fungal pathogens (such as Aspergillus species and Candida albicans). Deletions and missense, frameshift, or nonsense mutations in the gp91phox gene (also termed CYBB), located in the Xp21.1 region of the X chromosome, are associated with the most common form of CGD. When larger X-chromosomal deletions occur, including the XK gene deleti ...[more]