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Hereditary Angioedema (HAE) is a rare autosomal dominant genetic disease frequently caused by mutations in the C1 inhibitor gene SERPING1, resulting in dysregulated kallikrein–kinin system (KKS) and overproduction of bradykinin. Despite a constellation of pathogenic mutations identified in SERPING1 and 5 others genes in the KKS pathway, genetic diagnosis of some patients with unknown HAE causing mutations but clear HAE clinical presentations are elusive.
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