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Article

SERPING1 mutations in 59 families with hereditary angioedema.

Molecular immunology - 1 Oct 2011

López-Lera Alberto, Garrido Sofía, Roche Olga, López-Trascasa Margarita

Abstract excerpt

Hereditary angioedema due to C1 Inhibitor (C1Inh) deficiency (HAE types I and II) is a rare, life-threatening disease causing spontaneous edema of the submucosal layers. A cohort of 127 individuals with symptoms of recurrent familial angioedema from 59 non-related families was studied. All the patients included fulfilled the diagnostic and biochemical criteria of HAE, including low C1Inh function and/or...

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Source

Identifiers

PMID: 21864911
DOI: 10.1016/j.molimm.2011.07.010

Genes

SERPING1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

SERPING1 mutations in 59 families with hereditary angioedema.PMID 21864911Read ↗

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

Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.Semantic proximity Read ↗

Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.Semantic proximity Read ↗

Hereditary Angioedema Nationwide Study in Slovenia Reveals Four Novel Mutations in SERPING1 GeneSemantic proximity Read ↗

Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.Semantic proximity Read ↗

Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE CohortSemantic proximity Read ↗

A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency.Semantic proximity Read ↗

The Expanding Spectrum of Mutations in Hereditary Angioedema.Semantic proximity Read ↗

New mutations in C1 esterase inhibitor (SERPING1) in a German family with hereditary angioedema.Semantic proximity Read ↗

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.Semantic proximity Read ↗

Frequent life-threatening laryngeal attacks in two Croatian families with hereditary angioedema due to C1 inhibitor deficiency harbouring a novel frameshift mutation in SERPING1.Semantic proximity Read ↗

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

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