ArticleNature communications2020
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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.
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Who cites it
22 citing papers in PubMed, 50 citations in OpenAlex.
- 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
- Cold-Induced Urticarias with Familial Background: Clinical Spectrum, Pathogenesis, and Diagnostic Challenges.Diagnostics (Basel, Switzerland) · 2025Review
- A brief comparison of human factor XII-AlaResearch and practice in thrombosis and haemostasis · 2025Article
- Crystal structure of coagulation factor XII N-terminal domains 1-5.Acta crystallographica. Section D, Structural biology · 2025Article
- Patterns of C1-Inhibitor Plasma Levels and Kinin-Kallikrein System Activation in Relation to COVID-19 Severity.Life (Basel, Switzerland) · 2024Article
- Factor XII Structure-Function Relationships.Seminars in thrombosis and hemostasis · 2024Review
- New insights into chronic inducible urticaria.Current allergy and asthma reports · 2024Review
- Recent advances in the discovery and development of drugs targeting the kallikrein-kinin system.Journal of translational medicine · 2024Review
- A Fully Self-Powered Wearable Leg Movement Sensing System for Human Health Monitoring.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- Genetic Variants Leading to Urticaria and Angioedema and Associated Biomarkers.The journal of allergy and clinical immunology. In practice · 2023Article
- Blood Coagulation and Beyond: Position Paper from the Fourth Maastricht Consensus Conference on Thrombosis.Thrombosis and haemostasis · 2023Article
- Editorial: Kinin 2022 Meeting, Annecy, France.Journal of clinical medicine · 2023Article
- Mechanisms involved in hereditary angioedema with normal C1-inhibitor activity.Frontiers in physiology · 2023Review
- IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting.Nature reviews. Rheumatology · 2022Review
- Model for surface-dependent factor XII activation: the roles of factor XII heavy chain domains.Blood advances · 2022Article
- Illustrated State-of-the-Art Capsules of the ISTH 2020 Congress.Research and practice in thrombosis and haemostasis · 2021Review
- Blood Clotting and the Pathogenesis of Types I and II Hereditary Angioedema.Clinical reviews in allergy & immunology · 2021Review
- Review
- Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach.The Journal of allergy and clinical immunology · 2020Review
- A Pathophysiological Perspective on the SARS-CoV-2 Coagulopathy.HemaSphere · 2020Review
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary autoinflammatory diseases are caused by gene mutations of the innate immune pathway, e.g. nucleotide receptor protein 3 (NLRP3). Here, we report a four-generation family with cold-induced urticarial rash, arthralgia, chills, headache and malaise associated with an autosomal-dominant inheritance. Genetic studies identify a substitution mutation in gene F12 (T859A, resulting in p.W268R) which encodes coagulation factor XII (FXII). Functional analysis reveals enhanced autocatalytic cleavage of the mutated protein and spontaneous FXII activation in patient plasma and in supernatant of transfected HEK293 cells expressing recombinant W268R-mutated proteins. Furthermore, we observe reduced plasma prekallikrein, cleaved high molecular weight kininogen and elevated plasma bradykinin. Neutrophils are identified as a local source of FXII. Interleukin-1β (IL-1β) is upregulated in lesional skin and mononuclear donor cells exposed to recombinant mutant proteins. Treatment with icatibant (bradykinin-B2-antagonist) or anakinra (interleukin-1-antagonist) reduces disease activity in patients. In conclusion, our findings provide a link between contact system activation and cytokine-mediated inflammation.
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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.