Article

A novel mutation in EROS (<i>CYBC1</i>) causes Chronic Granulomatous Disease

2023-04-25

Abstract excerpt

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...

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Literature Corpus work: 2c78fe51-9bd5-54a7-936f-ad43d4981e37
DOI: 10.1101/2023.04.21.23286144

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