Article
Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease.
International journal of immunogenetics - 1 Dec 2017
Badalzadeh M, Tajik S, Fazlollahi M R, Houshmand M, Fattahi F, Alizadeh Z, Movahedi M, Adab Z, Khotaei G T, Hamidieh A A, Heidarnazhad H, Pourpak Z
Abstract excerpt
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by defect in one of the components of nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase enzyme. The enzyme is at least composed of membrane-bound subunits gp91-phox and p22-phox (also named cytochrome b558 ), and cytosolic ones p40-phox, p47-phox and p67-phox. A defect in the enzyme activity leads to impaired intracellular...
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