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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التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	Laura Batlle-Masó, Janire Perurena-Prieto, Laura Viñas-Giménez, Aina Aguiló-Cucurull, Paula Fernández-Álvarez, Johana Gil-Serrano, Mar Guilarte, Roger Colobran
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	Frontiers Media S.A. 2025-02-01
سلاسل:	Frontiers in Immunology
الموضوعات:	hereditary angioedema C1 inhibitor deficiency SERPING1 somatic variant gonosomal mosaicism genetic counseling
الوصول للمادة أونلاين:	https://www.frontiersin.org/articles/10.3389/fimmu.2025.1550380/full
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!