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Article

Type II hereditary angioedema with an apparently de novo SERPING1 mutation in China: A case report and family screening.

Medicine - 16 Jan 2026

Guan Zepu, Cai Liting, Li Yang, She Xinyan, Ye Buning, Wang Xiaohua

Abstract excerpt

RATIONALE: Type II hereditary angioedema (HAE) is a rare and underrecognized condition. Early diagnosis and family screening are essential to prevent life-threatening attacks. PATIENT CONCERNS: A 36-year-old woman presented with recurrent facial swelling and dysphagia unresponsive to standard treatments. DIAGNOSES: Laboratory analysis revealed decreased C4 and low functional C1 inhibitor (C1-INH) activity with...

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Share to Angioedemas, Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Complement C1 Inhibitor Protein

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Source

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Identifiers

PMID: 41560114
DOI: 10.1097/MD.0000000000047283
PMCID: PMC12826165

Genes

SERPING1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Type II hereditary angioedema with an apparently de novo SERPING1 mutation in China: A case report and family screening.PMID 41560114Read ↗

Case Report: Identification of a novel mutation, c.1067T > A, in the SERPING1 gene in a Chinese male with type 1 hereditary angioedemaSemantic proximity Read ↗

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

Novel SERPING1 Genetic Variant in Two Family Members with Hereditary Angioedema.Semantic proximity Read ↗

Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene.Semantic proximity Read ↗

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

Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations).Semantic proximity Read ↗

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

The Genetics of Hereditary Angioedema: A ReviewSemantic proximity Read ↗

Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India.Semantic proximity Read ↗

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

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