EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 30312704.
- Also identified by DOI 10.1016/j.jaci.2018.09.019 and PMC identifier 6490677.
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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.
Medical subject headings
- Granulomatous Disease, Chronic
- Lymphohistiocytosis, Hemophagocytic
- Membrane Proteins
- NADPH Oxidases
- Phagocytes
- T-Lymphocytes