ArticlePloS one2015
Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Prevalence and Incidence of Hereditary Angioedema: A Systematic Literature Review.International archives of allergy and immunology · 2026Pooled it
- Article
- The 2025 WAO Guidelines for the classification, diagnosis, and treatment of hereditary angioedema, with consideration of worldwide disparities.The World Allergy Organization journal · 2026Article
- Hereditary angioedema care across selected health systems in the Balkan Peninsula area: policy gaps, practice variation, and actionable recommendations.Frontiers in allergy · 2026Review
- 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
- Unveiling the Complexities of Hereditary Angioedema.Biomolecules · 2024Review
- Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.Journal of clinical immunology · 2023Article
- National survey on clinical and genetic characteristics of patients with hereditary angioedema in Latvia.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2023Article
- Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology.Advances in therapy · 2023Review
- A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain).Frontiers in immunology · 2022Article
- Review
- Clinical Characteristics and Management of Angioedema Attacks in Polish Adult Patients with Hereditary Angioedema Due to C1-Inhibitor Deficiency.Journal of clinical medicine · 2021Article
- In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency.Clinical reviews in allergy & immunology · 2021Article
- Biomarkers in Hereditary Angioedema.Clinical reviews in allergy & immunology · 2021Review
- Leveraging Genetics for Hereditary Angioedema: A Road Map to Precision Medicine.Clinical reviews in allergy & immunology · 2021Review
- Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 gene.Clinical and molecular allergy : CMA · 2021Article
- Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.Clinical and experimental immunology · 2017Article
- Signatures of Altered Gene Expression in Dorsal Root Ganglia of a Fabry Disease Mouse Model.Frontiers in molecular neuroscience · 2017Article
- Angioedema Phenotypes: Disease Expression and Classification.Clinical reviews in allergy & immunology · 2016Review
- Genetics of Hereditary Angioedema Revisited.Clinical reviews in allergy & immunology · 2016Review
Corrections and comments
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Authors and funding
7 authors at 2 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 autosomal dominant disease characterized by recurrent life-threatening oedemas and/or abdominal pain and caused by mutations affecting the C1 inhibitor gene, SERPING1. We sought to investigate the spectrum of SERPING1 mutations in Serbia and the possible genotype-phenotype association. C1-INH-HAE was diagnosed on the basis of clinical and laboratory criteria in 40 patients from 27 families; four were asymptomatic. Mutational analysis of the SERPING1 gene was performed by sequencing and multiplex ligation-dependent probe amplification. Disease-causing mutations in SERPING1 were identified in all patients. In C1-INH-HAE type I, we identified 19 different mutations, including 6 missense mutations, 6 nonsense mutations, 2 small deletions, 1 small insertion, 2 splicing defects and 2 large deletions. Two of the mutations (c.300C>T and c.1184_1185insTA) are reported here for the first time. All C1-INH-HAE type II patients from three families harboured the same substitution (c.1396C>T). Based on the type of mutation identified in the SERPING1 gene, patients were divided into two groups: group 1 (nonsense, frameshift, large deletions/insertions, splicing defect, and mutations at Arg444) or group 2 (missense, excluding mutations at Arg444). Significant differences were found in the clinical severity score (P = 0.005), prevalence of laryngeal (P = 0.040) and facial (P = 0.013) oedema, and long-term prophylaxis (P = 0.023) between the groups with different types of mutations. Because our population consisted of related subjects, differences in the severity score between mutation groups were further confirmed using the generalized estimating equation (P = 0.038). Our study identified 20 different disease-causing mutations, including two novel mutations, in all C1-INH-HAE patients, highlighting the heterogeneity of mutations in the SERPING1 gene. Furthermore, it appears that mutations with a clear effect on C1-INH function might be responsible for a more severe disease phenotype.
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