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Eros Mutations: Decreased Nadph Oxidase Function and Chronic Granulomatous Disease

Thomas, DC; Charbonnier, L-M; Schejtman, A; Aldhekri, H; Coomber, EL; Dufficy, ER; Beenken, AE; ... Smith, KGC; + view all (2019) Eros Mutations: Decreased Nadph Oxidase Function and Chronic Granulomatous Disease. Journal of Allergy and Clinical Immunology , 143 (2) , Article e1. 10.1016/j.jaci.2018.09.019. Green open access

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Abstract

The phagocyte respiratory burst is mediated by the phagocyte NADPH oxidase, a multi-protein subunit complex that facilitates production of reactive oxygen species and which is essential for host defence. Monogenic deficiency of individual subunits leads to chronic granulomatous disease (CGD), which is characterized by an inability to make reactive oxygen species, leading to severe opportunistic infections and auto-inflammation. However, not all cases of CGD are due to mutations in previously identified subunits. We recently showed that Eros, a novel and highly conserved ER-resident transmembrane protein, is essential for the phagocyte respiratory burst in mice because it is required for expression of gp91phox-p22phox heterodimer, which are the membrane bound components of the phagocyte NADPH oxidase. Eros has a human orthologue, CYBC1/EROS. We now show that the function of CYBC1/EROS is conserved in human cells and describe a case of CGD secondary to a homozygous CYBC1/EROS mutation that abolishes EROS protein expression. This work demonstrates the fundamental importance of CYBC1/EROS in human immunity and describes a novel cause of CGD.

Type: Article
Title: Eros Mutations: Decreased Nadph Oxidase Function and Chronic Granulomatous Disease
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.jaci.2018.09.019
Publisher version: https://doi.org/10.1016/j.jaci.2018.09.019
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: C17ORF62, CYBC1, Chronic granulomatous disease, EROS, Nox2, gp91phox
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inst for Liver and Digestive Hlth
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10059013
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