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Article

Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients.

Italian journal of pediatrics - 2 Aug 2023

Gul Irum, Khan Taj Ali, Akbar Noor Ul, Gul Naila, Ali Rehman, Khan Shahid Niaz

Abstract excerpt

BACKGROUND: Chronic Granulomatous Disease (CGD) is a primary immunodeficiency that causes susceptibility to recurrent fungal and bacterial infections. The CYBB gene encodes gp91phox component of the Phagocytic Nicotinamide adenine dinucleotide phosphate (NADPH) oxidase and specifically, X-linked CGD is caused by mutations in the CYBB gene, located on the X chromosome. The aim of the study was to characterize...

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Identifiers

PMID: 37533075
DOI: 10.1186/s13052-023-01496-7
PMCID: PMC10399011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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