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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http://dx.doi.org/10.1016/j.jaci.2018.09.019 | DOI Listing |
Biomedica
December 2024
Laboratorio de Inmunodeficiencias, Instituto Nacional de Pediatría, Ciudad de México, México.
Introduction: Chronic granulomatous disease is a defect in phagocytosis due to deficiency of gp91phox, p22phox, p47phox, p40phox, and p67phox (classic form of the disease). Recently, EROS and p40phox deficiency were described as responsible for the non-classical form of the disease. The 1,2,3-dihydrorhodamine oxidation technique, with phorbol-12-myristate-13-acetate as a stimulus, is performed to diagnose the classic chronic granulomatous disease.
View Article and Find Full Text PDFBiomedica
December 2024
Laboratorio de Inmunodeficiencias, Instituto Nacional de Pediatría, Ciudad de México, México.
Chronic granulomatous disease is the inborn error of immunity with the highest frequency of invasive aspergillosis. In this context, invasive aspergillosis is frequent in adolescence, with rare cases before one year of age. We present a case of chronic granulomatous disease and invasive aspergillosis in a four-month-old infant.
View Article and Find Full Text PDFBiomedica
December 2024
Departamento de Alergología e Inmunología Clínica, Hospital Infantil de México Federico Gómez, Ciudad de México, México.
Introduction: Chronic granulomatous disease is a congenital immune disorder characterized by increased susceptibility to fungal and bacterial infections and dysregulated inflammation. It is caused by defects in the NADPH oxidase and EROS protein.
Objective: To characterize clinically and genetically four patients with chronic granulomatous disease at the Hospital Infantil de México Federico Gómez.
Ann Hepatol
January 2025
Department of Gastroenterology, Xinhua Hospital of zhejiang Province: The Second Affiliated Hospital of Zhejiang Chinese Medical University, Zhejiang, China. Electronic address:
Non-alcoholic fatty liver disease (NAFLD), now recognized as metabolic dysfunction-associated steatotic liver disease (MASLD), represents a significant and escalating global health challenge. Its prevalence is intricately linked to obesity, insulin resistance, and other components of the metabolic syndrome. As our comprehension of MASLD deepens, it has become evident that this condition extends beyond the liver, embodying a complex, multi-systemic disease with hepatic manifestations that mirror the broader metabolic landscape.
View Article and Find Full Text PDFJ Reprod Infertil
January 2024
Department of Histology and Embryology, Istanbul Medeniyet University, School of Medicine, Istanbul, Turkey.
Background: The newest NOX isoform, NOX5, has been found in mammalian spermatozoa. Many physiological and pathological situations in spermatozoa are mediated by reactive oxygen species (ROS). NOX5 is the main source of ROS in spermatozoa.
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