ArticleAnnals of the rheumatic diseases2006
Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene.
Article in Annals of the rheumatic diseases, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 1 of them a synthesis that pooled it.
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64 citing papers in PubMed, 1 synthesis or guideline pooled it, 170 citations in OpenAlex.
- The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist.Arthritis & rheumatology (Hoboken, N.J.) · 2022Pooled it
- Clinical and laboratory manifestations and treatment of children withWorld journal of clinical pediatrics · 2026Article
- Monogenic disorders of the TNF signalling pathway.Nature reviews. Rheumatology · 2026Review
- Clinical heterogeneity of NLRP12-associated autoinflammatory diseases.Genes & diseases · 2023Article
- Autoinflammatory manifestations in adult patients.Clinical and experimental immunology · 2022Article
- Variant in theJournal of clinical medicine · 2022Article
- The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases.Journal of multidisciplinary healthcare · 2022Article
- TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.Scientific reports · 2021Article
- Anakinra and canakinumab for patients with R92Q-associated autoinflammatory syndrome: a multicenter observational study from the AIDA Network.Therapeutic advances in musculoskeletal disease · 2021Article
- The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review.World journal of pediatrics : WJP · 2020Review
- Autoinflammatory Diseases in ChildhoodBalkan medical journal · 2020Article
- Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.International journal of molecular sciences · 2020Review
- Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network.Mediators of inflammation · 2020Article
- Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-Mediators of inflammation · 2020Article
- Vision-threatening bilateral panuveitis and TRAPS in a child: an uncommon association.International ophthalmology · 2019Review
- Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.Mediators of inflammation · 2019Review
- Treating TNF Receptor Associated Periodic Fever Syndrome in End-Stage Renal Failure.Case reports in nephrology · 2019Article
- A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.Clinical reviews in allergy & immunology · 2018Review
- Tumor necrosis factor-associated periodic syndrome in adults.Rheumatology international · 2018Review
- A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.Orphanet journal of rare diseases · 2017Article
4 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTumour necrosis factor receptor-associated periodic syndrome (TRAPS) has been associated with several mutations in the TNF receptor super family 1A (TNFRSF1A), including most cysteine substitutions. However, the nature of two substitutions, P46L and R92Q, remains a topic of discussion. The aim of this study was to assess the actual role of these two sequence variations in a series of patients with TRAPS.
methodsThe main clinical data of 89 patients with TRAPS have been prospectively registered on a standard form. 84 patients or members of families with recurrent episodes of inflammatory symptoms spanning a period of more than 6 months and harbouring a TNFRSF1A mutation were studied. Clinical data have been analysed according to the nature of the mutation-P46L, R92Q or others.
resultsP46L is often seen in patients from Maghreb and is associated with a mild phenotype. P46L appears as a polymorphism with a non-specific role in inflammation. R92Q is associated with a variable phenotype and presents as a low-penetrance mutation. Interpreting these results will require a comparison with clinical signs and genetic background.
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