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Features include: Systemic lupus erythematosus.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 1 | Systemic lupus erythematosus |
SERPING1 function has not been fully characterized.
C1 inhibitor deficiency is associated with mutations in the SERPING1 gene on chromosome 11.
Genetic testing for SERPING1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for C1 inhibitor deficiency has been reported in the published literature.
2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy. Pipeline includes 1 PHASE2, 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.
96 publications have been identified in PubMed for C1 inhibitor deficiency. Research spans Clinical Trial Publication (28%), Epidemiology / Natural History (22%), and Case Report / Case Series (16%).
Research Type | Count | % of Total |
|---|---|---|
Clinical study results | 27 |
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Common questions about C1 inhibitor deficiency
Disease patterns and progression | 21 | 22% |
Patient case studies | 15 | 16% |
Research summaries | 14 | 15% |
Testing and diagnosis research | 9 | 9% |
Laboratory research | 8 | 8% |
New treatment approaches | 2 | 2% |
Magerl M (2026). [PMID: 41788693](https://pubmed.ncbi.nlm.nih.gov/41788693/). *Allergologie select*. [Epidemiology / Natural History]
Betschel SD (2026). [PMID: 41566486](https://pubmed.ncbi.nlm.nih.gov/41566486/). *Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology*. [Clinical Trial Publication]
Hollers E (2026). [PMID: 41783625](https://pubmed.ncbi.nlm.nih.gov/41783625/). *The World Allergy Organization journal*. [Epidemiology / Natural History]
Banerji A (2026). [PMID: 41794053](https://pubmed.ncbi.nlm.nih.gov/41794053/). *The Journal of allergy and clinical immunology*. [Clinical Trial Publication]
Farkas H (2026). [PMID: 41618059](https://pubmed.ncbi.nlm.nih.gov/41618059/). *Allergy*. [Review / Meta-Analysis]
Watt M (2026). [PMID: 41715164](https://pubmed.ncbi.nlm.nih.gov/41715164/). *Orphanet journal of rare diseases*. [Case Report / Case Series]
Ranucci L (2026). [PMID: 41853272](https://pubmed.ncbi.nlm.nih.gov/41853272/). *Frontiers in immunology*. [Basic Science / Preclinical]
De Agrela-Mendes I (2026). [PMID: 41335147](https://pubmed.ncbi.nlm.nih.gov/41335147/). *Journal of investigational allergology & clinical immunology*. [Clinical Trial Publication]
de Jong GM (2026). [PMID: 41670049](https://pubmed.ncbi.nlm.nih.gov/41670049/). *Journal of investigational allergology & clinical immunology*. [Case Report / Case Series]
Batlle-Masó L (2026). [PMID: 41896320](https://pubmed.ncbi.nlm.nih.gov/41896320/). *J Clin Immunol*. [Diagnostic / Biomarker]
AI-curated news mentioning C1 inhibitor deficiency
Updated May 15, 2026
A new study analyzes heart rate variability in patients with hereditary angioedema due to C1 inhibitor deficiency using Holter monitoring. This research could enhance understanding of cardiovascular implications in this rare disease.