Associated Papers
First Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency.
Bhattarai D et al.
Journal of Clinical Immunology, 2024
HSCT in two brothers with CGD arising from mutations in CYBC1 corrects the defect in neutrophil function.
Perez-Heras I et al.
Clinical Immunology (orlando, Fla.), 2021
Colitis susceptibility in mice with reactive oxygen species deficiency is mediated by mucus barrier and immune defense defects.
Aviello G et al.
Mucosal Immunology, 2019
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
Arnadottir GA et al.
Nature Communications, 2018
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