EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease
Authors list
David C Thomas Louis-Marie Charbonnier Andrea Schejtman Hasan Aldhekri Eve L Coomber Elizabeth R Dufficy Anne E Beenken James Lee Simon Clare Anneliese O Speak Adrian J Thrasher Giorgia Santilli Hamoud Al-Mousa Fowzan S Alkuraya Talal A Chatila Kenneth GC SmithAbstract
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.
Journal details
Volume 143
Issue number 2
Pages 782-785.e1
Available online
Publication date
Full text links
Publisher website (DOI) 10.1016/j.jaci.2018.09.019
Europe PubMed Central 30312704
Pubmed 30312704
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