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

David C Thomas; Louis-Marie Charbonnier; Andrea Schejtman; Hasan Aldhekri; Eve L Coomber; Elizabeth R Dufficy; Anne E Beenken; James C Lee; Simon Clare; Anneliese O Speak; Adrian J Thrasher; Giorgia Santilli; Hamoud Al-Mousa; Fowzan S Alkuraya; Talal A Chatila; Kenneth G C Smith

doi:10.1016/j.jaci.2018.09.019

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

J Allergy Clin Immunol. 2019 Feb;143(2):782-785.e1. doi: 10.1016/j.jaci.2018.09.019. Epub 2018 Oct 9.

Authors

David C Thomas¹, Louis-Marie Charbonnier², Andrea Schejtman³, Hasan Aldhekri⁴, Eve L Coomber⁵, Elizabeth R Dufficy⁶, Anne E Beenken⁶, James C Lee⁶, Simon Clare⁵, Anneliese O Speak⁵, Adrian J Thrasher³, Giorgia Santilli³, Hamoud Al-Mousa⁷, Fowzan S Alkuraya⁸, Talal A Chatila², Kenneth G C Smith⁹

Affiliations

¹ Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom. Electronic address: tdct2@cam.ac.uk.
² Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
³ Molecular Immunology Unit, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
⁴ Department of Paediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
⁵ Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, United Kingdom.
⁶ Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom.
⁷ Department of Paediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
⁸ Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia; Saudi Human Genome Programme, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
⁹ Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom. Electronic address: kgcs2@cam.ac.uk.

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.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Animals
Bone Marrow Transplantation
Cells, Cultured
Gene Knockdown Techniques
Granulomatous Disease, Chronic / genetics*
Granulomatous Disease, Chronic / metabolism
Humans
Lymphohistiocytosis, Hemophagocytic / diagnosis*
Male
Membrane Proteins / genetics*
Mice
NADPH Oxidases / metabolism*
Oxidation-Reduction
Pedigree
Phagocytes / physiology*
Reactive Oxygen Species / metabolism
Respiratory Burst
T-Lymphocytes / immunology*

Substances

CYBC1 protein, human
Eros protein, mouse
Membrane Proteins
Reactive Oxygen Species
NADPH Oxidases

Abstract

Publication types

MeSH terms

Substances

Grants and funding