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Article

A novel mutation in EROS (CYBC1) causes chronic granulomatous disease.

Clinical immunology (Orlando, Fla.) - 1 Oct 2023

Mortimer Paige M, Nichols Esme, Thomas Joe, Shanbhag Rachna, Singh Neha, Coomber Eve L, Malik Talat H, Pickering Matthew C, Randzavola Lyra, Rae William, Bhattad Sagar, Thomas David C

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...

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Identifiers

PMID: 37673227
DOI: 10.1016/j.clim.2023.109761

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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