Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare and life-
threatening condition characterized by recurrent localized edema. We conducted a …

Purpose Hereditary angioedema (HAE) is a rare autosomal dominant life-threatening
disease characterized by low levels of C1 inhibitor (type I HAE) or normal levels of …

Background: In about 5% of patients with hereditary angioedema due to C1-inhibitor
deficiency (C1-INH-HAE) no mutation in the SERPING1 gene is detected. Methods: C1-INH …

SERPING1 genotyping of subjects suspicious for hereditary angioedema due to C1-INH
deficiency (C1-INH-HAE) is important for clinical practice as well as for research reasons …

Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) type I and II is a rare
and life-threatening disease caused by SERPING1 gene mutations. Previous genetic …

Background Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency (C1-INH-
HAE) is a rare autosomal dominant disorder, characterized by recurrent, unpredictable …

Mutations in the C1 inhibitor (C1INH) encoding gene, SERPING1, are associated with
hereditary angioedema (HAE) which manifests as recurrent submucosal and subcutaneous …

Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1INH) is a rare autosomal-
dominant disease caused by mutations in SERPING1 gene. The main clinical feature of …

Existing evidence indicates that modifier genes could change the phenotypic outcome of the
causal SERPING1 variant and thus explain the expression variability of hereditary …

Background The pathogenesis of hereditary angioedema (HAE) type I and type II is linked to
defective C1 esterase inhibitor (C1-INH) encoded by the SERPING1 gene. There are …