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Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency

1 Feb 2024

Abstract excerpt

Background: Hereditary angioedema (HAE) is a potentially life-threatening disorder characterized by recurrent episodes of subcutaneous or submucosal swelling. HAE with normal C1 inhibitor (HAE-nC1-INH) is an underdiagnosed condition. Although the association with genetic variants has been identified for some families, the genetic causes in many patients with HAE-nC1-INH remain unknown. The role of genes...

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Identifiers

PMID: 38445235
DOI: 10.1016/j.jacig.2024.100223

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