EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.
Accepted version
Peer-reviewed
Repository URI
Repository DOI
Change log
Authors
Thomas, David C
Charbonnier, Louis-Marie
Schejtman, Andrea
Aldhekri, Hasan
Coomber, Eve L
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
1097-6825
Volume Title
143
Publisher
Elsevier BV
Publisher DOI
Sponsorship
Wellcome Trust (206617/Z/17/Z)
Medical Research Council (MR/L019027/1)
Medical Research Council (MR/L019027/1)
Wellcome Trust