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

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...

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Veröffentlicht in:	Journal of clinical immunology 2023-11, Vol.43 (8), p.1953-1963
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedical and Life Sciences Biomedicine boys Chromosome deletion Chromosomes Chronic granulomatous disease Comparative Genomic Hybridization Copy number copy number variation CYBB protein Diagnosis DNA Copy Number Variations DNA microarrays exons family Female fungi Gene deletion gene expression Genetic screening girls Granulomatous Disease, Chronic - diagnosis Granulomatous Disease, Chronic - genetics heterozygosity Humans Hybridization immunity Immunology Infectious Diseases Inflammation Internal Medicine Male Medical Microbiology microarray technology Mosaicism mRNA Mutation - genetics NAD(P)H oxidase NAD(P)H oxidase (H2O2-forming) Original Article Phagocytes Reactive oxygen species RNA, Messenger X chromosome X chromosomes X-chromosome inactivation
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