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
EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.
Thomas DC et al.
The Journal of Allergy and Clinical Immunology, 2019
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
Arnadottir GA et al.
Nature Communications, 2018
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
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