Incidental findings related to genes associated to HAE-nC1INH: how to proceed?

In contrast to hereditary angioedema (HAE) due to C1-inhibitor deficiency, the detection of pathogenic variants in genes linked to HAE with normal C1 inhibitor levels (HAE-nC1INH) is required for the diagnosis of the corresponding types of the disease. The mainstreaming of genomic technology and the...

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Principais autores:	Anastasios E. Germenis, Despina Sanoudou
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2025-06-01
Serija:	Frontiers in Immunology
Teme:	hereditary angioedema incidental findings incidental VUS penetrance secondary findings variants of uncertain significance
Online dostop:	https://www.frontiersin.org/articles/10.3389/fimmu.2025.1605727/full
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