ArticleArthritis research & therapy2013
Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature.
Article in Arthritis research & therapy, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 63 citations in OpenAlex.
- Trial
- Use of anakinra in cryopyrin-associated periodic syndromes: case report and review of literature.Frontiers in immunology · 2025Review
- Autoinflammatory diseases: what is behind them and what is new?Dermatology reports · 2023Article
- Amplification of Inflammation by Lubricin Deficiency Implicated in Incident, Erosive Gout Independent of Hyperuricemia.Arthritis & rheumatology (Hoboken, N.J.) · 2023Article
- Dermatologic Manifestations of Noninflammasome-Mediated Autoinflammatory Diseases.JID innovations : skin science from molecules to population health · 2023Review
- Variant in theJournal of clinical medicine · 2022Article
- Next-Generation Sequencing Analysis of MVK, NLRP3, TNFRSF1A, and PSTPIP1 Genes in Patients without MEFV Gene Variation and Genotype-Phenotype Correlation.European journal of rheumatology · 2022Article
- Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.Clinical rheumatology · 2021Article
- [Pathophysiology of autoinflammatory dermatoses].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2020Review
- The PANoptosome: A Deadly Protein Complex Driving Pyroptosis, Apoptosis, and Necroptosis (PANoptosis).Frontiers in cellular and infection microbiology · 2020Review
- Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review.Clinical reviews in allergy & immunology · 2018Review
- Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.Rheumatology international · 2018Article
- Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.PloS one · 2017Article
- Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience.Frontiers in immunology · 2017Article
- Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.Scientific reports · 2015Article
- Schnitzler's syndrome: lessons from 281 cases.Clinical and translational allergy · 2014Review
- Recurrent Urticaria: A Rare Cryopyrin-Associated Periodic Syndrome - Muckle-Wells Syndrome.Case reports in dermatologyArticle
- Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation.Journal of postgraduate medicineArticle
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
introductionMutations in the NLRP3 gene are associated with the dominantly inherited cryopyrin-associated periodic syndrome (CAPS). The significance of the V198M variant is unclear; it has been reported in association with various CAPS phenotypes and as a variant of uncertain consequence. The aim of this study was to characterize the clinical phenotypes and treatments in individuals with V198M assessed in a single UK center.
methodsDNA samples from 830 subjects with fever syndromes or a family history of CAPS were screened for mutations in the NLRP3 gene with polymerase chain reaction (PCR) and sequencing. A detailed medical history was available in all cases. Inflammatory disease activity was monitored monthly with measurements of serum amyloid A protein (SAA) and C-reactive protein (CRP) in symptomatic individuals.
resultsNLRP3 V198M was identified in 19 subjects. It was found in association with CAPS in five cases, in one patient with Schnitzler syndrome, in three patients who also had a nucleotide alteration in another fever gene, and in three other patients with evidence of an autoinflammatory phenotype. Seven asymptomatic individuals were detected during screening of family members.
conclusionsThe NLRP3 V198M variant shows variable expressivity and reduced penetrance. It may be associated with classical inherited or apparently sporadic CAPS and with atypical autoinflammatory disease of varying severity, intriguingly including Schnitzler syndrome. The factors that influence the pathogenic consequences of this variant remain unknown. However, the remarkable response to interleukin 1 (IL-1) blockade in all but one individual in our series confirms that their clinical features are indeed mediated by IL-1.
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