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Article

Restriction of C1-inhibitor activity in hereditary angioedema by dominant-negative effects of disease-associated SERPING1 gene variants

8 Jun 2023

Abstract excerpt

BACKGROUND: Patients with hereditary angioedema experience recurrent, sometimes life-threatening, attacks of edema. It is a rare genetic disorder characterized by genetic and clinical heterogenicity. Most cases are caused by genetic variants in the SERPING1 gene leading to plasma deficiency of the encoded protein C1 inhibitor (C1INH). More than 500 different hereditary angioedema-causing variants have been...

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Coagulation, Bradykinin, Polyphosphates, and Angioedema
Complement system in diseases
Hemophilia Treatment and Research

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37301409
DOI: 10.1016/j.jaci.2023.04.023

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Restriction of C1-inhibitor activity in hereditary angioedema by dominant-negative effects of disease-associated SERPING1 gene variantsPMID 37301409Read ↗

Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedemaSemantic proximity Read ↗

A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.Semantic proximity Read ↗

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SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAESemantic proximity Read ↗

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