ReviewClinical reviews in allergy & immunology2021
Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene.
Review in Clinical reviews in allergy & immunology, 2021. 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 24 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed.
- 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
- Elevated serum zonulin is associated with high attack frequency in hereditary angioedema: providing insight into the gut-angioedema axis.Orphanet journal of rare diseases · 2026Article
- Clinical features of hereditary angioedema involving the gastrointestinal tract: A retrospective analysis.The World Allergy Organization journal · 2026Article
- DNA Methylation, SERPING1 Expression, and Immune-related Traits in Osteoporosis: A Mendelian Randomization Study And SupportiveEndocrine, metabolic & immune disorders drug targets · 2026Article
- Therapeutic Advances in Hereditary Angioedema: A Focus on Present and Future Options.Advances in therapy · 2025Review
- Recurrent angioedema manifestation and treatment response in two patients from different families caring the myoferlin gene mutation: case series.Orphanet journal of rare diseases · 2025Article
- Disease control and disease activity in hereditary angioedema: two sides of the same coin?Frontiers in immunology · 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
- Misdiagnosed Hereditary Angioedema with Recurrent Abdominal Pain: A NovelJournal of asthma and allergy · 2025Article
- Lethal COVID-19 associates with RAAS-induced inflammation for multiple organ damage including mediastinal lymph nodes.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Factor XII Structure-Function Relationships.Seminars in thrombosis and hemostasis · 2024Review
- Pathophysiological dynamics in the contact, coagulation, and complement systems during sepsis: Potential targets for nafamostat mesilate.Journal of intensive medicine · 2024Review
- The effect of estrogen-containing birth control pills on the constituents of bradykinin expression in plasma.The journal of allergy and clinical immunology. Global · 2024Article
- Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency.The journal of allergy and clinical immunology. Global · 2024Article
- A mechanism for hereditary angioedema caused by a methionine-379-to-lysine substitution in kininogens.Blood · 2024Article
- Article
- Current challenges and future opportunities in patient-focused management of hereditary angioedema: A narrative review.Clinical and translational allergy · 2023Review
- Pediatric Angioedema without Wheals: How to Guide the Diagnosis.Life (Basel, Switzerland) · 2023Article
- Managing Diagnosis, Treatment, and Burden of Disease in Hereditary Angioedema Patients with Normal C1-Esterase Inhibitor.Journal of asthma and allergy · 2023Review
Corrections and comments
- Erratum issued
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary Angioedema (HAE) is an autosomal dominant disorder characterized clinically by recurrent episodes of swelling involving subcutaneous tissues, gastrointestinal tract, and oro-pharyngeal area. Gene mutations are the most common genetic cause of HAE and observed in more than 90% of patients. More than 700 mutation variants have been described so far. Patients with angioedema who have no mutations in the gene for C1-INH and normal levels and activity of this inhibitor are labelled: normal C1 inhibitor HAE. These include genetic mutations in factor 12 gene, plasminogen gene, angiopoietin gene, kininogen 1, and myoferlin genes. The clinical manifestations of patients with these mutations are similar to with patients with C1-INH gene mutations. However, a later age of onset, oro-pharyngeal involvement, and higher female preponderance have been reported in these rare subtypes of hereditary angioedema. With the advent and increased accessibility of whole-exome sequencing, it is expected that new genetic defects and novel pathophysiological pathways will be identified in families with HAE of unknown cause or normal C1-INH angioedema. This review covers some of the recent advances in the field of HAE. The review focuses on pathophysiology of HAE beyond the well-known C1-INH deficiency phenotypes, including various biomarkers that can serve the diagnosis and management of these rare disorders.
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