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Article

SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE

31 Mar 2022

Abstract excerpt

Hereditary angioedema with C1 Inhibitor deficiency (C1-INH-HAE) is caused by a constellation of variants of theSERPING1gene (n= 809; 1,494 pedigrees), accounting for 86.8% of HAE families, showing a pronounced mutagenic liability ofSERPING1and pertaining to 5.6%de novovariants. C1-INH is the major control serpin of the kallikrein–kinin system (KKS). In addition, C1-INH controls complement C1 and plasminogen...

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Share to Blood Coagulation and Thrombosis Mechanisms
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Identifiers

PMID: 35958943
DOI: 10.3389/falgy.2022.835503

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