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X-Linked Chronic Granulomatous Disease: Mutations in the CYBB Gene Encoding the gp91-phox Component of Respiratory-Burst Oxidase

✍ Scribed by Julie Rae; Peter E. Newburger; Mary C. Dinauer; Deborah Noack; Penelope J. Hopkins; Ryoko Kuruto; John T. Curnutte

Book ID
117852424
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
345 KB
Volume
62
Category
Article
ISSN
0002-9297

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πŸ“œ SIMILAR VOLUMES

Characterization of 11 novel mutations i
Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene)
✍ BΓ©nΓ©dicte GΓ©rard; Jamel El Benna; FranΓ§oise Alcain; Marie-Anne Gougerot-Pocidalo πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 19 KB

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.

Identification and functional characteri
Identification and functional characterization of two novel mutations in the Ξ±-helical loop (residues 484–503) of CYBB/gp91phox resulting in the rare X91+ variant of chronic granulomatous disease
✍ Bernadette Boog; Alex Quach; Maurizio Costabile; Joanne Smart; Patrick Quinn; Ha πŸ“‚ Article πŸ“… 2012 πŸ› John Wiley and Sons 🌐 English βš– 270 KB

Chronic granulomatous disease (CGD) is mainly caused by mutations in X-linked CYBB that encodes gp91. We have identified two novel mutations in CYBB resulting in the rare X91 + -CGD variant, c.1500T>G (p.Asp500Glu) in two male siblings and c.1463C>A (p.Ala488Asp) in an unrelated male. Zymosan and/or