ArticleJournal of clinical immunology2023
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.
Article in Journal of clinical immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 11 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
- Concurrent hereditary angioedema type I and common variable immunodeficiency presenting as suspected antibiotic hypersensitivity: Case report and literature discussion.The World Allergy Organization journal · 2026Article
- The 2025 WAO Guidelines for the classification, diagnosis, and treatment of hereditary angioedema, with consideration of worldwide disparities.The World Allergy Organization journal · 2026Article
- Epidemiological and clinical characteristics of hereditary angioedema in the Baltic states.Frontiers in immunology · 2026Article
- Diagnostic delay,Frontiers in allergy · 2026Article
- Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability.Orphanet journal of rare diseases · 2025Article
- Early diagnosis of hereditary angioedema in children: genetic testing should be prioritized.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2025Article
- Identification of an elusiveFrontiers in allergy · 2025Article
- Implementation of genetic diagnosis and personalized management of hereditary angioedema in a Chinese regional center: a community case study of three families.Frontiers in allergy · 2025Article
- Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants inThe World Allergy Organization journal · 2024Article
- Functional Characterization of Two Novel Intron 4Biomedicines · 2023Article
- Pathogenic variant inBMJ case reports · 2023Article
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Authors and funding
24 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 systematic screening of SERPING1 defects in a cohort of 207 Czech patients from 85 families with C1-INH-HAE. Our workflow involved a combined strategy of sequencing extended to UTR and deep intronic regions, advanced in silico prediction tools, and mRNA-based functional assays. This approach allowed us to detect a causal variant in all families except one and to identify a total of 56 different variants, including 5 novel variants that are likely to be causal. We further investigated the functional impact of two splicing variants, namely c.550 + 3A > C and c.686-7C > G using minigene assays and RT-PCR mRNA analysis. Notably, our cohort showed a considerably higher proportion of detected splicing variants compared to other central European populations and the LOVD database. Moreover, our findings revealed a significant association between HAE type 1 missense variants and a delayed HAE onset when compared to null variants. We also observed a significant correlation between the presence of the SERPING1 variant c.-21 T > C in the trans position to causal variants and the frequency of attacks per year, disease onset, as well as Clinical severity score. Overall, our study provides new insights into the genetic landscape of C1-INH-HAE in the Czech population, including the identification of novel variants and a better understanding of genotype-phenotype correlations. Our findings also highlight the importance of comprehensive screening strategies and functional analyses in improving the C1-INH-HAE diagnosis and management.
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