Article
A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections.
Microbial pathogenesis - 1 Nov 2016
Khan Taj Ali, Kalsoom Kalsoom, Iqbal Asif, Asif Huma, Rahman Hazir, Farooq Syed Omar, Naveed Hassan, Nasir Umar, Amin Muhammad Usman, Hussain Mubashir, Tipu Hamid Nawaz, Florea Andrei
Abstract excerpt
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations in the five structural genes (CYBB, CYBA, NCF1, NCF2, and NCF4) that typically results in a decrease in function or inability to generate a respiratory burst, leading to defective killing of pathogens, including fungi and intracellular bacteria. Mutations in CYBB, encoding the gp91phox (also known as NOX2) result in X-linked CGD...
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