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Chronic Granulomatous Disease (CGD)

Clinical Features and Laboratory Testing


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Molecular Pathogenesis

Slide 8

January 2010

The molecular pathogenesis of CGD includes mutations in 4 of the genes that encode the NADPH oxidase complex.

Of these, the CYBB gene encoding the gp91phox is an X-linked gene and therefore, these mutations are inherited in an X-linked manner. Mutations in this gene account for the majority of the CGD cases (65-70%). Mutations in the p47phox, p67phox and p22phox are all inherited in an autosomal recessive manner and the accounts for 25%, 5% and 5% cases respectively.

The pathogenesis of CGD spans the spectrum of possible mutations including missense, nonsense, deletions, frameshift, splice site, intronic and regulatory variations.

Molecular Pathogenesis


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