Associated Papers
Unmasking Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS): Diagnostic pitfalls of de novo mutations.
Zhu YY et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2025
Genotype and transcript processing of the tumour necrosis factor receptor TNFRSF1A in epithelial cells: implications for survival in cystic fibrosis.
Uden A et al.
Ebiomedicine, 2025
Case Report: A New TNFRSF1A Gene Mutation in a Turkish Family With TNF Receptor-Associated Periodic Syndrome (TRAPS).
Öğüt TS et al.
International Journal of Rheumatic Diseases, 2025
Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.
Rozevska M et al.
Frontiers in Immunology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Renal involvement in monogenic autoinflammatory diseases: A narrative review.
La Bella S et al.
Nephrology (carlton, Vic.), 2023
A rare onset in tumour necrosis factor receptor-associated periodic syndrome: recurrent macrophage activation syndrome triggered by COVID-19 infection.
Çağlayan Ş et al.
Rheumatology (oxford, England), 2022
Phenotype and cytokine profile in a TRAPS Syndrome family with TNFRSF1A p.(Thr79Met): Association with sacro-iliitis.
Dingulu G et al.
Joint Bone Spine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
TRAPS mutations in Tnfrsf1a decrease the responsiveness to TNFα via reduced cell surface expression of TNFR1.
Akagi T et al.
Frontiers in Immunology, 2022
Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review.
Delaleu J et al.
Rheumatology (oxford, England), 2021
In the limelight: AA amyloidosis exposes TNF receptor-1 associated periodic syndrome.
Cavalli G et al.
Rheumatology (oxford, England), 2021
[Periodic fever syndrome associated with mutations in the TNF type 1 receptor gene: A differential diagnosis of familial Mediterranean fever that should not be overlooked in patients of Mediterranean origin].
Bourguiba R et al.
La Revue De Medecine Interne, 2021
The genomic landscape of pediatric rheumatology disorders in the Middle East.
Fathalla BM et al.
Human Mutation, 2021
TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.
Rittore C et al.
Scientific Reports, 2021
Identification of Critical Transcriptomic Signaling Pathways in Patients with H Syndrome and Rosai-Dorfman Disease.
Lara-Reyna S et al.
Journal of Clinical Immunology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Molecular and clinical spectrum of four pedigrees of TRAPS in Greece: results from a national referral center.
Nezos A et al.
Rheumatology (oxford, England), 2020
Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.
Cudrici C et al.
International Journal of Molecular Sciences, 2020
Phenotypic variability in two patients with tumor necrosis factor receptor associated periodic fever syndrome emphasizes a rare manifestation: Immunoglobulin A nephropathy.
Balci S et al.
European Journal of Medical Genetics, 2020
Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor-Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network.
Gaggiano C et al.
Mediators of Inflammation, 2020
Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.
Wang W et al.
Frontiers in Immunology, 2020
Clinical Significance of Serum Soluble TNF Receptor I/II Ratio for the Differential Diagnosis of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome From Other Autoinflammatory Diseases.
Yasumura J et al.
Frontiers in Immunology, 2020
Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome.
Tsuji S et al.
Clinical and Experimental Immunology, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Treating TNF Receptor Associated Periodic Fever Syndrome in End-Stage Renal Failure.
Coutinho J et al.
Case Reports in Nephrology, 2019
Recurrent fever and arthralgia as the presentation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Chinese girl: a case report and review of the literature.
Chen Y et al.
Clinical Rheumatology, 2018
A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan.
Yasumura J et al.
Modern Rheumatology, 2016
The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway.
Greco E et al.
Arthritis Research & Therapy, 2015
The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.
Lachmann HJ et al.
Annals of the Rheumatic Diseases, 2014
A novel TNFRSF1A splice mutation associated with increased nuclear factor kappaB (NF-kappaB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS).
Churchman SM et al.
Annals of the Rheumatic Diseases, 2008
"Periodic fever" without fever: two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis.
Kallinich T et al.
Annals of the Rheumatic Diseases, 2006
The tumour necrosis factor receptor-associated periodic syndrome: current concepts.
Stojanov S et al.
Expert Reviews in Molecular Medicine, 2005
[Pathogenesis of amyloidosis in periodic disease].
Aĭvazian AA et al.
Klinicheskaia Meditsina, 1982