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Article

Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.

Journal of clinical immunology - 1 Nov 2023

Batlle-Masó Laura, Rivière Jacques G, Franco-Jarava Clara, Martín-Nalda Andrea, Garcia-Prat Marina, Parra-Martínez Alba, Aguiló-Cucurull Aina, Castells Neus, Martinez-Gallo Mónica, Soler-Palacín Pere, Colobran Roger

Abstract excerpt

Chronic granulomatous disease (CGD) is a prototypical inborn error of immunity affecting phagocytes, in which these cells are unable to produce reactive oxygen species. CGD is caused by defects in genes encoding subunits of the NADPH oxidase enzyme complex (CYBA, CYBB, CYBC1, NCF1, NCF2, NCF4); inflammatory responses are dysregulated, and patients are highly susceptible to recurrent severe bacterial and fungal...

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PMID: 37597073
DOI: 10.1007/s10875-023-01556-x

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