ReviewClinical reviews in allergy & immunology2016
Genetics of Hereditary Angioedema Revisited.
Review in Clinical reviews in allergy & immunology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
46 citing papers in PubMed, 3 syntheses or guidelines pooled it, 123 citations in OpenAlex.
- International Guideline on the Diagnosis and Management of Pediatric Patients With Hereditary Angioedema.Allergy · 2026Guideline
- Interventions for the long-term prevention of hereditary angioedema attacks.The Cochrane database of systematic reviews · 2022Pooled it
- Psychology and hereditary angioedema: A systematic review.Allergy and asthma proceedings · 2021Pooled it
- 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
- Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.Journal of clinical immunology · 2026Article
- Management of pregnancy, delivery and breast-feeding in hereditary angioedema: an analysis of 15 pregnancies with conventional treatment approaches and a case of Lanadelumab use.Orphanet journal of rare diseases · 2026Article
- Recurrent self-limiting abdominal pain with bowel wall edema misdiagnosed as gastroenteritis: a case report of C1-inhibitor-deficient hereditary angioedema.Frontiers in medicine · 2026Article
- Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability.Orphanet journal of rare diseases · 2025Article
- Identification of an elusiveFrontiers in allergy · 2025Article
- Article
- Unveiling the Complexities of Hereditary Angioedema.Biomolecules · 2024Review
- Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.PloS one · 2024Article
- The analysis of the effect of the COVID-19 pandemic on patients with hereditary angioedema type I and type II.Scientific reports · 2023Article
- Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.Journal of clinical immunology · 2023Article
- Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses.The Journal of allergy and clinical immunology · 2023Article
- Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.Frontiers in genetics · 2023Article
- Throat microbiota alterations in patients with hereditary angioedema.The World Allergy Organization journal · 2022Article
- Droplet digital PCR for identifying copy number variations in patients with primary immunodeficiency disorders.Clinical and experimental immunology · 2022Article
- The international WAO/EAACI guideline for the management of hereditary angioedema - The 2021 revision and update.The World Allergy Organization journal · 2022Article
- Oral Surgery Procedures in a Patient Affected by Hereditary Angioedema Type I.Case reports in dentistry · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing data have also recently been published indicating that the clinical heterogeneity of hereditary angioedema due to C1 inhibitor deficiency (classified as C1-INH-HAE) could be attributed at least in part, either to the type of SERPING1 mutations or to mutations in genes encoding for enzymes involved in the metabolism and function of bradykinin. Alterations detected in at least one more gene (F12) are nowadays considered responsible for 25 % of cases of hereditary angioedema with normal C1-INH (type III hereditary angioedema (HAE), nlC1-INH-HAE). Interesting data derived from genetic approaches of non-hereditary angioedemas indicate that other immune pathways might be implicated in the pathogenesis of HAE. More than 125 years after the recognition of the hereditary nature of HAE by Osler, the heterogeneity of clinical expressions, the genetics of this disorder, and the genotype-phenotype relationships, still presents a challenge that will be discussed in this review. Large scale, in-depth genetic studies are expected not only to answer these emerging questions but also to further elucidate many of the unmet aspects of angioedema pathogenesis. Uncovering genetic biomarkers affecting the severity of the disease and/or the effectiveness of the various treatment modalities might lead to the prevention of attacks and the optimization of C1-INH-HAE management that is expected to provide a valuable benefit to the sufferers of angioedema.
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Registered trials
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.