EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.

Accepted version
Repository URI
https://www.repository.cam.ac.uk/handle/1810/285673
Repository DOI
https://doi.org/10.17863/CAM.33025
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Accepted version (36.83 KB)
Type
Article
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Authors
Thomas, David C 
Charbonnier, Louis-Marie 
Schejtman, Andrea 
Aldhekri, Hasan 
Coomber, Eve L 
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Abstract

We demonstrate for the first time that EROS (CYBC1/C17ORF62) regulates abundance of the gp91phox-p22phox heterodimer of the phagocyte NADPH oxidase in human cells and that EROS mutations are a novel cause of chronic granulomatous disease.

Description
Keywords
Animals, Bone Marrow Transplantation, Cells, Cultured, Gene Knockdown Techniques, Granulomatous Disease, Chronic, Humans, Lymphohistiocytosis, Hemophagocytic, Male, Membrane Proteins, Mice, NADPH Oxidases, Oxidation-Reduction, Pedigree, Phagocytes, Reactive Oxygen Species, Respiratory Burst, T-Lymphocytes
Journal Title
J Allergy Clin Immunol
Conference Name
Journal ISSN
0091-6749
1097-6825
Volume Title
143
Publisher
Elsevier BV
Publisher DOI
https://doi.org/10.1016/j.jaci.2018.09.019
Rights
http://www.rioxx.net/licenses/all-rights-reserved
Sponsorship
Wellcome Trust (206617/Z/17/Z)
Medical Research Council (MR/L019027/1)
Wellcome Trust
Collections
Cambridge University Research Outputs