ArticleRheumatology international2018
Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.
Article in Rheumatology international, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 25 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
- Pathogenic and genetic landscape of Still's disease across ages, with new insights into age-related IL-18 patterns.Arthritis research & therapy · 2026Review
- Still's Disease and Autoinflammation: Positioning an Inflammatory Syndrome on the Autoinflammation-Autoimmunity Spectrum.Current rheumatology reports · 2026Review
- Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.Arthritis & rheumatology (Hoboken, N.J.) · 2025Article
- Review
- Recent advances and evolving concepts in Still's disease.Nature reviews. Rheumatology · 2024Review
- Molecular genetics in adult-onset Still's disease: next-generation sequencing in 24 patients and literature review.Frontiers in immunology · 2024Observational
- Low-density granulocytes in systemic autoimmunity and autoinflammation.Immunological reviews · 2023Review
- Dermatologic Manifestations of Noninflammasome-Mediated Autoinflammatory Diseases.JID innovations : skin science from molecules to population health · 2023Review
- Diagnosis and treatment of adult-onset Still's disease: a concise summary of the German society of rheumatology S2 guideline.Zeitschrift fur Rheumatologie · 2023Review
- Activation mechanisms of monocytes/macrophages in adult-onset Still disease.Frontiers in immunology · 2022Review
- Adult-onset Still's disease: A disease at the crossroad of innate immunity and autoimmunity.Frontiers in medicine · 2022Review
- Autoinflammation and autoimmunity across rheumatic and musculoskeletal diseases.Nature reviews. Rheumatology · 2021Review
- Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups.BMC medical genetics · 2020Article
- Familial Mediterranean Fever and COVID-19: Friends or Foes?Frontiers in immunology · 2020Review
- BothAnnals of the rheumatic diseases · 2020Article
- Periodic fever syndromes: beyond the single gene paradigm.Pediatric rheumatology online journal · 2019Review
- Review
- Molecular genetic analysis for periodic fever syndromes: a supplemental role for the diagnosis of adult-onset Still's disease.Clinical rheumatology · 2018Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveAdult onset Still's disease (AOSD) is a severe, autoimmune disease that can be challenging to treat with conventional therapeutics and biologicals in a considerable number of cases. Therefore, there is a high need to understand its pathogenesis better. As major clinical symptoms overlap between AOSD and hereditary periodic fever syndromes (HPFS), we analysed four known HPFS genes in AOSD.
methodsWe performed Sanger sequencing and quantitative analysis of all coding regions of MEFV, TNFRSF1A, MVK and NLRP3 in 40 AOSD patients. All rare coding variants (n = 6) were evaluated for several aspects to classify them as benign to pathogenic variants. Statistical analysis was performed to analyse whether variants classified as (likely) pathogenic were associated with AOSD.
resultsWe identified three rare variants in MEFV, one previously not described. Association to the three likely pathogenic MEFV variants was significant (p
conclusionOur results indicate TNFRSF1A as a relevant gene in AOSD, especially in patients with a more challenging course of disease, while causal variants remain to be identified in the majority of patients.
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