De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency

De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency

Hereditary angioedema (HAE) is a rare genetic disease, characterized by transient and self-limiting episodes of subcutaneous or submucosal swelling that spontaneously resolve within two to five days. The most common form of HAE, HAE-C1-INH, is caused by deleterious mutations in the SERPING1 gene, en...

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Bibliographic Details
Main Authors: Laura Batlle-Masó, Janire Perurena-Prieto, Laura Viñas-Giménez, Aina Aguiló-Cucurull, Paula Fernández-Álvarez, Johana Gil-Serrano, Mar Guilarte, Roger Colobran
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-02-01
Series:Frontiers in Immunology
Subjects:
hereditary angioedema
C1 inhibitor deficiency
SERPING1
somatic variant
gonosomal mosaicism
genetic counseling
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1550380/full
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https://www.frontiersin.org/articles/10.3389/fimmu.2025.1550380/full

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