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

17 Jun 2025

Abstract excerpt

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 increasing use of next generation sequencing have increased the possibility of an unintentional detection of...

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PMID: 40599776
DOI: 10.3389/fimmu.2025.1605727

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