Article
Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families.
Journal of clinical immunology - 1 Aug 2012
Stasia Marie José, van Leeuwen Karin, de Boer Martin, Martel Cecile, Mollin Michele, Thuret Isabelle, Michel Gerard, Hanson Celine, Augustine Nancy H, Coutton Charles, Satre Véronique, Wittwer Carl T, Hill Harry, Roos Dirk
Abstract excerpt
Chronic granulomatous disease (CGD) is a rare congenital disorder in which phagocytes cannot generate superoxide (O(2)(-)) and other microbicidal oxidants due to mutations in one of the five components of the O(2)(-)-generating NADPH oxidase complex. The most common form is caused by mutations in CYBB on the X chromosome, encoding gp91phox, the enzymatic subunit of the phagocyte NADPH oxidase. Here, we report two...
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