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An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease

✍ Scribed by Deborah Noack; Paul G. Heyworth; Peter E. Newburger; Andrew R. Cross


Book ID
117617832
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
685 KB
Volume
1537
Category
Article
ISSN
0925-4439

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The most frequent form of chronic granulomatous disease (CGD) is caused by inactivation of the CYBB gene, which encodes the gp91-phox subunit of phagocyte NADPH oxidase. This defect prevents phagocytes from producing reactive oxygen species and thus from eradicating bacterial and fungal infections.