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Article

First Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency.

Journal of clinical immunology - 19 Jun 2024

Bhattarai Dharmagat, Banday Aaqib Zaffar, Tenzin Phub, Nisar Rahila, Patra Pratap Kumar

Abstract excerpt

Chronic granulomatous disease (CGD) primarily results from inherited defects in components of the nicotinamide adenine dinucleotide phosphate oxidase enzyme complex. These include gene defects in cytochrome B-245/558 subunit α/β and neutrophil cytosolic factors 1, 2, and 4. Recently, homozygous loss-of-function variants in cytochrome B-245 chaperone 1 gene (CYBC1) have been discovered to cause CGD (CYBC1-CGD)....

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Identifiers

PMID: 38896305
DOI: 10.1007/s10875-024-01752-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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