ArticleFrontiers in allergy2022
Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema.
Article in Frontiers in allergy, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 8 citations in OpenAlex.
- Family Tree Mapping of Genetic and Phenotypic Codes of Hereditary Angioedema.Medicina (Kaunas, Lithuania) · 2026Article
- A novel SERPING1 splice-site variant (c.1029 + 2T > A) causing hereditary angioedema type I: functional characterization and clinical analysis.Orphanet journal of rare diseases · 2026Article
- Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability.Orphanet journal of rare diseases · 2025Article
- Hereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patients.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2024Article
- Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants inThe World Allergy Organization journal · 2024Article
- Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.Journal of clinical immunology · 2023Article
- [Hereditary angioedema due to C1-inhibitor deficiency, a national disease management programme].Wiener klinische Wochenschrift · 2023Article
- Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema.Clinical and translational allergy · 2023Article
- Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses.The Journal of allergy and clinical immunology · 2023Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency (C1-INH-HAE) is a rare autosomal dominant disorder, characterized by recurrent, unpredictable edematous symptoms involving subcutaneous, and/or submucosal tissue. C1-INH-HAE may be caused by more than 700 different mutations in the gene encoding C1-INH ( Methods: Concentrations of C1-INH, C4, C1q, and anti-C1-INH antibodies, as well as functional C1-INH activity were determined in subjects suffering from edematous symptoms and admitted to the Hungarian Angioedema Center of Reference and Excellence. In those patients, who were diagnosed with C1-INH-HAE based on the complement measurements, Results: Altogether 197 individuals with C1-INH deficiency belonging to 68 families were identified. By applying Sanger sequencing or copy number determination of Conclusions: Sequencing and copy number determination of
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