ArticleJournal of clinical immunology2012
Characterization of NLRP3 variants in Japanese cryopyrin-associated periodic syndrome patients.
Article in Journal of clinical immunology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- Lipopolysaccharide stimulation test on cultured PBMCs assists the discrimination of cryopyrin-associated periodic syndrome from systemic juvenile idiopathic arthritis.Scientific reports · 2021Article
- Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies.Rheumatology international · 2021Review
- The Emerging Application of Itaconate: Promising Molecular Targets and Therapeutic Opportunities.Frontiers in chemistry · 2021Review
- Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.Frontiers in immunology · 2020Article
- The Long-Term Efficacy of Cochlear Implantation for Hearing Loss in Muckel-Wells Syndrome.The journal of international advanced otology · 2019Article
- An innate interaction between IL-18 and the propeptide that inactivates its precursor form.Scientific reports · 2019Article
- Early canakinumab therapy for the sensorineural deafness in a family with Muckle-Wells syndrome due to a novel mutation of NLRP3 gene.Clinical rheumatology · 2019Article
- SUMO-mediated regulation of NLRP3 modulates inflammasome activity.Nature communications · 2018Article
- [Progress on the study of NLRP3 inflammasome in autoinflammatory diseases of children].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2017Review
- Targeting the NLRP3 inflammasome in chronic inflammatory diseases: current perspectives.Journal of inflammation research · 2015Review
- Purification, crystallization and preliminary X-ray crystallographic analysis of human IL-18 and its extracellular complexes.Acta crystallographica. Section F, Structural biology communications · 2014Article
- Biomarkers in systemic juvenile idiopathic arthritis: a comparison with biomarkers in cryopyrin-associated periodic syndromes.Current opinion in rheumatology · 2014Review
- Clinical and genetic characterization of Japanese sporadic cases of periodic Fever, aphthous stomatitis, pharyngitis and adenitis syndrome from a single medical center in Japan.Journal of clinical immunology · 2014Article
- In vitro analysis of the functional effects of an NLRP3 G809S variant with the co-existence of MEFV haplotype variants in atypical autoinflammatory syndrome.Journal of clinical immunology · 2013Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The etiology of cryopyrin-associated periodic syndrome (CAPS) is caused by germline gene mutations in NOD-like receptor family, pryin domain containing 3 (NLRP3)/cold-induced autoinflammatory syndrome 1 (CIAS1). CAPS includes diseases with various severities. The aim of this study was to characterize patients according to the disease severity of CAPS. Five Japanese patients with four kinds of gene variations in NLRP3 were found and diagnosed as CAPS or juvenile idiopathic arthritis. Two mutations in NLRP3, Y563N and E688K, found in CAPS patients exhibit significant positive activities in the nuclear factor-κB reporter gene assay. Increased serum interleukin (IL)-18 levels were only observed in severe cases of CAPS. In mild cases of CAPS, the serum IL-18 levels were not increased, although lipopolysaccharide- or hypothermia-enhanced IL-1β and IL-18 production levels by their peripheral blood mononuclear cells were detectable. This series of case reports suggests that a combination of in vitro assays could be a useful tool for the diagnosis and characterization of the disease severity of CAPS.
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