A novel mutation in the CIAS1/NLRP3 gene associated with an unexpected phenotype of cryopyrin-associated periodic syndromes.
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Summary
The rapid response toIL-1 inhibition suggests that the disease of this patient is driven by IL-1 and supports the conclusion that this novel mutation is pathogenic and may be associated with a new CAPS phenotype.
- Type
- article
- Published
- 2014-10-17
- Cited by
- 14
- References
- 11
- OpenAlex
- https://openalex.org/W64481087
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:24296777
Keywords
Medicine, Anakinra, MEFV, Mutation, Phenotype
References
- Long-term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: a case series.
- Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)‐1 and an emerging role for cytokines beyond IL‐1
- The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.
- Familial Mediterranean fever and related periodic fever syndromes/autoinflammatory diseases
- Gene polymorphisms in the NALP3 inflammasome are associated with interleukin-1 production and severe inflammation: relation to common inflammatory diseases?
- Current Status of Understanding the Pathogenesis and Management of Patients With NOMID/CINCA
- Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes
- Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review
Cited by
- Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients
- Cytokines and chemokines: At the crossroads of cell signalling and inflammatory disease.
- Idiopathic Pericarditis—an Autoinflammatory Disease?
- Standards and legacies: Pragmatic constraints on a uniform gene nomenclature
- Anakinra for corticosteroid-dependent and colchicine-resistant pericarditis: The IRAP (International Registry of Anakinra for Pericarditis) study
- Contemporary diagnosis and treatment of recurrent pericarditis
- The NLRP3 Inflammasome: Role and Therapeutic Potential in Pain Treatment
- Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies
- Autoimmune and Autoinflammatory Pericarditis: Definitions and New Treatments
- Recent advances in pericarditis.
- Immunomodulating Therapies in Acute Myocarditis and Recurrent/Acute Pericarditis
- Interleukin-1 Blockers in Recurrent and Acute Pericarditis: State of the Art and Future Directions
- Recurrent pericarditis and interleukin (IL)-1 inhibitors.
- Cryopyrin-Associated Periodic Syndromes (CAPS)
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