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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Main Authors: | Laura Batlle-Masó, Janire Perurena-Prieto, Laura Viñas-Giménez, Aina Aguiló-Cucurull, Paula Fernández-Álvarez, Johana Gil-Serrano, Mar Guilarte, Roger Colobran |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2025-02-01
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Series: | Frontiers in Immunology |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1550380/full |
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