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- W4366998902 abstract "Abstract Chronic Granulomatous Disease (CGD) is an inborn error of immunity characterised by opportunistic infection and sterile granulomatous inflammation. CGD is caused by a failure of reactive oxygen species (ROS) production by the phagocyte NADPH oxidase. Mutations in the genes encoding phagocyte NADPH oxidase subunits cause CGD. We and others have described a novel form of CGD (CGD5) secondary to lack of EROS ( CYBC1 ), a highly selective chaperone for gp91 phox . EROS-deficient cells express minimal levels of gp91 phox and its binding partner p22 phox , but EROS also controls the expression of other proteins such as P2×7. The full nature of CGD5 is currently unknown. We describe a homozygous frameshift mutation in CYBC1 leading to CGD. Individuals who are heterozygous for this mutation are found in South Asian populations (allele frequency = 0.00006545), thus it is not a private mutation. Therefore, it is likely to be the underlying cause of other cases of CGD." @default.
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- W4366998902 date "2023-04-25" @default.
- W4366998902 modified "2023-10-16" @default.
- W4366998902 title "A novel mutation in EROS (<i>CYBC1</i>) causes Chronic Granulomatous Disease" @default.
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- W4366998902 doi "https://doi.org/10.1101/2023.04.21.23286144" @default.
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