ArticleClinical and experimental immunology2015
Increased prevalence of MEFV exon 10 variants in Japanese patients with adult-onset Still's disease.
Article in Clinical and experimental immunology, 2015. 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, 32 citations in OpenAlex.
- Identification of genetic variants associated with monogenic autoinflammatory diseases in patients with Still's disease using next-generation sequencing.Immunologic research · 2026Article
- Still's Disease and Autoinflammation: Positioning an Inflammatory Syndrome on the Autoinflammation-Autoimmunity Spectrum.Current rheumatology reports · 2026Review
- Molecular genetics in adult-onset Still's disease: next-generation sequencing in 24 patients and literature review.Frontiers in immunology · 2024Observational
- Adult-onset Still's Disease Diagnosed during Puerperium with Liver Dysfunction in Pregnancy and Liver Failure of the Infant.Internal medicine (Tokyo, Japan) · 2023Article
- The Expanding Spectrum of Autoinflammatory Diseases.Internal medicine (Tokyo, Japan) · 2023Article
- Adult-onset Still's disease: A disease at the crossroad of innate immunity and autoimmunity.Frontiers in medicine · 2022Review
- The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis.Orphanet journal of rare diseases · 2021Article
- Current research status of HLA in immune-related diseases.Immunity, inflammation and disease · 2021Review
- The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis.Pediatric rheumatology online journal · 2020Article
- Autoinflammatory Pathogenesis and Targeted Therapy for Adult-Onset Still's Disease.Clinical reviews in allergy & immunology · 2020Review
- Genetic Association and Expression Correlation between Colony-Stimulating Factor 1 Gene Encoding M-CSF and Adult-Onset Still's Disease.Journal of immunology research · 2020Article
- Familial Mediterranean Fever and COVID-19: Friends or Foes?Frontiers in immunology · 2020Review
- Pathogenesis, disease course, and prognosis of adult-onset Still's disease: an update and review.Chinese medical journal · 2019Review
- An adult case of atypical familial Mediterranean fever (pyrin-associated autoinflammatory disease) similar to adult-onset Still's disease.Clinical case reports · 2019Article
- MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Which Is Near to Mediterranean Sea.Genetics research international · 2019Article
- A case of adult onset Still's disease with mutations of the MEFV gene who is partially responsive to colchicine.Medicine · 2018Article
- Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.Rheumatology international · 2018Article
- Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still's disease.Arthritis research & therapy · 2017Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autoinflammatory diseases include a large spectrum of monogenic diseases, e.g. familial Mediterranean fever (FMF), as well as complex genetic trait diseases, e.g. adult-onset Still's disease (AOSD). In populations where FMF is common, an increased MEFV mutation rate is found in patients with rheumatic diseases. The aim of this study was to examine MEFV mutations in Japanese patients with AOSD. Genomic DNA was isolated from 49 AOSD patients and 105 healthy controls, and exons 1, 2, 3 and 10 of the MEFV gene genotyped by direct sequencing. MEFV mutation frequencies in AOSD patients were compared with controls. We found no significant difference in overall allele frequencies of MEFV variants between AOSD patients and controls. However, MEFV exon 10 variants (M694I and G632S) were significantly higher in AOSD patients than controls (6.1 versus 0%). In addition, there was no significant difference between MEFV variant carriers and non-carriers with clinical manifestations, but the monocyclic clinical course of the AOSD disease phenotype was observed less frequently in patients without MEFV variants. AOSD patients had significantly higher frequencies of MEFV exon 10 mutations, suggesting that low-frequency variants of MEFV gene may be one of the susceptibility factors of AOSD.
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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.