ArticleThe journal of allergy and clinical immunology. Global2024
Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency.
Article in The journal of allergy and clinical immunology. Global, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 35 citations in OpenAlex.
- Lanadelumab for prevention of attacks of non-histaminergic normal C1 inhibitor angioedema: results from the randomized, double-blind CASPIAN Study and CASPIAN open-label extension.Frontiers in immunology · 2025Trial
- Garadacimab for the long-term prophylaxis of hereditary angioedema.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2026Review
- Therapeutic Targeting of the Bradykinin B2 Receptor in Immunological and Vascular Diseases: Insights from Kinin Biology to Clinical Outcomes.Clinical reviews in allergy & immunology · 2026Review
- The 2025 WAO Guidelines for the classification, diagnosis, and treatment of hereditary angioedema, with consideration of worldwide disparities.The World Allergy Organization journal · 2026Article
- The International/Canadian hereditary angioedema guideline.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2026Review
- Endothelial barrier disorder in hereditary angioedema: molecular mechanisms and therapeutic implications.Frontiers in immunology · 2026Review
- Chronic Spontaneous Urticaria with Biochemical C1 Inhibitor Deficiency: A Case Report of Suspected Overlap with Hereditary Angioedema.Clinical, cosmetic and investigational dermatology · 2026Article
- Diagnostic delay,Frontiers in allergy · 2026Article
- Associations of hereditary angioedema attacks with intestinal permeability and inflammatory cytokines.Frontiers in immunology · 2026Article
- Eosinophilic inflammation in hereditary angioedema: a single-center real-world retrospective chart review study.Frontiers in immunology · 2026Article
- Epidemiological and clinical characteristics of hereditary angioedema in the Baltic states.Frontiers in immunology · 2026Article
- Transmission of F12-related hereditary angioedema through a sperm donor.Frontiers in immunology · 2026Article
- Boolean Networks with Classic and New Updating Modes Applied to Genetic Regulation in Some Familial Diseases.International journal of molecular sciences · 2025Article
- Treatment of Hereditary Angioedema With Plasma-Derived C1 Inhibitor: A Review.Clinical and translational allergy · 2025Review
- Therapeutic Advances in Hereditary Angioedema: A Focus on Present and Future Options.Advances in therapy · 2025Review
- Status quo and future developments in the diagnosis and treatment of hereditary angioedema.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2025Review
- Expanding the Genetic and Clinical Spectrum of Hereditary Angioedema with Normal C1 Inhibitor: Novel Variants and Treatment Insights.Journal of clinical immunology · 2025Article
- Global frequency, diagnosis, and treatment of hereditary angioedema with normal C1 inhibitor.The journal of allergy and clinical immunology. Global · 2025Article
- Hereditary angioedema diagnosis: Reflecting on the past, envisioning the future.The World Allergy Organization journal · 2025Review
- Urticaria unveiled in hereditary angioedema with carboxypeptidase N mutation.The journal of allergy and clinical immunology. Global · 2025Article
Corrections and comments
- Erratum issuedCorrigendum.2024
Authors and funding
11 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Hereditary angioedema (HAE) is a potentially life-threatening disorder characterized by recurrent episodes of subcutaneous or submucosal swelling. HAE with normal C1 inhibitor (HAE-nC1-INH) is an underdiagnosed condition. Although the association with genetic variants has been identified for some families, the genetic causes in many patients with HAE-nC1-INH remain unknown. The role of genes associated with bradykinin catabolism is not fully understood. Objective: We sought to investigate the biological parameters and the genes related to kallikrein-kinin system in families with a clinical phenotype of HAE-nC1-INH and presenting with a carboxypeptidase N (CPN) deficiency. Methods: This study includes 4 families presenting with HAE-nC1-INH and CPN deficiency. Patients' clinical records were examined, biological parameters of kallikrein-kinin system were measured, and genetics was analyzed by next-generation sequencing and Sanger sequencing. Predictive algorithms (Human Splicing Finder, Sorting Intolerant From Tolerant, Polymorphism Phenotyping v2, MutationTaster, and ClinPred) were used to classify variants as affecting splicing, as benign to deleterious, or as disease-causing. Results: Patients presented with angioedema and urticaria, mainly on face/lips, but also with abdominal pain or laryngeal symptoms. Affected patients displayed low CPN activity-30% to 50% of median value in plasma. We identified 3 variants of the Conclusions:
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.