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Article

Clinical and molecular findings of chronic granulomatous disease in Oman: family studies.

Clinical genetics - 1 Feb 2015

Al-Zadjali S, Al-Tamemi S, Elnour I, AlKindi S, Lapoumeroulie C, Al-Maamari S, Pathare A, Dennison D, Krishnamoorthy R

Abstract excerpt

Chronic granulomatous disease (CGD), a rare inherited disorder of the innate immune system, results from mutations in any one of the five genes encoding the subunits of the nicotinamide adenine dinucleotide phosphate-oxidase (NADPH) oxidase enzyme, and is characterized by recurrent life-threatening bacterial and fungal infections. Molecular analysis of 14 Omani CGD patients from 10 families, diagnosed to have CGD...

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Identifiers

PMID: 24446915
DOI: 10.1111/cge.12351

Genes

CYBB
NCF1

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

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