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Severe X-linked chronic granulomatous disease in two unrelated females

✍ Scribed by Sylvie Chollet-Martin; Anne Lopez; Catherine Gaud; Dominique Henry; Bertrand Stos; Jamel El Benna; Gaëlle Chedevile; Dominique Gendrel; Marie-Anne Gougerot-Pocidalo; Bernard Grandchamp; Bénédicte Gérard

Book ID
106121057
Publisher
Springer
Year
2006
Tongue
English
Weight
185 KB
Volume
166
Category
Article
ISSN
0340-6997

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Characterization of 11 novel mutations i
Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene)
✍ Bénédicte Gérard; Jamel El Benna; Françoise Alcain; Marie-Anne Gougerot-Pocidalo 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 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.