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Case Reports
. 2019 Feb;143(2):782-785.e1.
doi: 10.1016/j.jaci.2018.09.019. Epub 2018 Oct 9.

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

David C Thomas  1 , Louis-Marie Charbonnier  2 , Andrea Schejtman  3 , Hasan Aldhekri  4 , Eve L Coomber  5 , Elizabeth R Dufficy  6 , Anne E Beenken  6 , James C Lee  6 , Simon Clare  5 , Anneliese O Speak  5 , Adrian J Thrasher  3 , Giorgia Santilli  3 , Hamoud Al-Mousa  7 , Fowzan S Alkuraya  8 , Talal A Chatila  2 , Kenneth G C Smith  9
Affiliations
Case Reports

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

David C Thomas et al. J Allergy Clin Immunol. 2019 Feb.

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.

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Conflict of interest statement

Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Figure 1:
Figure 1:. EROS function is conserved in humans.
(A-C) Western blot of (A) EROS (B) gp91phox (C) p22phox, (D) surface gp91phox expression and (E) phagocyte respiratory burst in CRISPR targeted PLB-985 clones (F) surface expression of gp91phox in CRISPR targeted cells +/− overexpression of EROS-GFP. (G) NBT reduction following reconstitution with EROS-GFP lentiviral vector. Representative of 3 independent experiments.
Figure 2:
Figure 2:. Homozygous EROS mutation has deleterious effects.
(A, B): respiratory burst in patient and healthy control neutrophils. (C) homozygous c.127 A to G mutation (D) EROS protein expression in CD3/CD2/CD28 expanded PBMC from patient, sister and a healthy control, control CD4+ T cells pre and post CD3/CD2/CD28 or PBMC from a further healthy control. Representative of 2–3 independent experiments.
See this image and copyright information in PMC

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