ArticleClinical and experimental immunology2017
Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.
Article in Clinical and experimental immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Beyond the Index Case: A Practical Framework for Cascade Family Screening in Hereditary Angioedema.Clinical reviews in allergy & immunology · 2026Review
- Integrative transcriptomic and proteomic analysis reveals that SERPING1 inhibits neuronal proliferationWorld journal of psychiatry · 2025Article
- Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.PloS one · 2024Article
- Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses.The Journal of allergy and clinical immunology · 2023Article
- Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.Hereditas · 2022Article
- A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain).Frontiers in immunology · 2022Article
- First Census of Patients with Hereditary Angioedema in the Canary Islands.Journal of clinical medicine · 2021Article
- Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation.Journal of clinical immunology · 2020Article
- Co-occurrence between C1 esterase inhibitor deficiency and autoimmune disease: a systematic literature review.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2020Article
- Hereditary angioedema in Austria: prevalence and regional peculiarities.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2019Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease caused by mutations in the C1 inhibitor gene SERPING1. Phenotype and clinical features of the disease are extremely heterogeneous, varying even within the same family. Compared to HAE cohorts in other countries, the genetic background of the Swiss HAE patients has not yet been elucidated. In the present study we investigated the mutational spectrum of the SERPING1 gene in 19 patients of nine unrelated Swiss families. The families comprise a total of 111 HAE-affected subjects which corresponds to approximately 70% of all HAE-affected patients living in Switzerland. Three of the identified mutations are newly described. Members of family A with a nucleotide duplication as genetic background seem to have a more intense disease manifestation with a higher attack frequency compared to the other families. Newly designed genetic screening tests allow a fast and cost-efficient testing for HAE in other family members.
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