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- W1567356897 abstract "Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by impairment of intracellular microbicidal activity of phagocytes. Mutations in one of four known nicotinamide adenine dinucleotide phosphate (NADPH) -oxidase components preclude generation of superoxide and related antimicrobial oxidants, leading to the phenotype of CGD. Defects in gp91-phox, encoded by CYBB gene, lead to X-linked CGD and have been reported to be responsible for approximately 65% of all CGD cases. The autosomal gene in CGD are CYBA, encoding p22-phox, NCF2, encoding p67-phox, NCF1, encoding p47-phox, and NCF4, encoding p40-phox (figure 1) (1,2). The mutation in these genes, respectively, abolishes the activity of the oxidase and leads to autosomal recessive chronic granulomatous disease (AR-CGD) which is approximately 35% of all CGD cases (table 1)." @default.
- W1567356897 created "2016-06-24" @default.
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- W1567356897 date "2012-10-12" @default.
- W1567356897 modified "2023-10-05" @default.
- W1567356897 title "Missense Mutation in AR-CGD" @default.
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- W1567356897 doi "https://doi.org/10.5772/35758" @default.
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