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Article

The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency.

Gene - 15 Aug 2024

Rupar Nina, Šelb Julij, Košnik Mitja, Zidarn Mihaela, Andrejević Slađana, Čulav Ljerka, Grivčeva-Panovska Vesna, Korošec Peter, Rijavec Matija

Abstract excerpt

Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH) is a rare genetic disorder caused by pathogenic variants in the SERPING1 gene and characterised by swelling and a highly variable clinical phenotype. We aimed to identify novel modifying genetic factors predisposing to the clinical symptoms. We performed whole exome sequencing (WES) and comprehensive bioinformatic analysis in symptomatic and...

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Identifiers

PMID: 38679185
DOI: 10.1016/j.gene.2024.148496

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