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Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives
- Source :
- International Journal of Molecular Sciences, International Journal of Molecular Sciences, Vol 21, Iss 3263, p 3263 (2020)
- Publication Year :
- 2020
-
Abstract
- Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory syndrome characterized by prolonged and recurrent episodes of fever, abdominal and/or chest pain, arthralgia, myalgia, and erythematous rash. TRAPS is associated with heterozygous variants in the TNFRSF1A gene, which encodes the TNFR1 (tumor necrosis factor receptor 1) receptor. Disease-causing variants are found exclusively in the extracellular domain of TNFR1 and affect receptor structure and binding to the TNF ligand. The precise mechanism of the disease is still unclear, but it is thought that intracellular accumulation of misfolded mutant protein leads to endoplasmic reticulum stress and enhanced inflammatory responses through constitutive activation of various immune pathways. Other possible mechanisms contributing to the disease pathogenesis include defective receptor shedding, TNF-induced cell death, production of reactive oxygen species, and autophagy impairment. Patients’ leucocytes are hyperresponsive to stimulation and produce elevated levels of proinflammatory cytokines. Systemic autoimmune (AA) amyloidosis is an important cause of morbidity and mortality in TRAPS. Over the last two decades, new therapies have changed the progression and outcome of the disease. In this review, we summarize clinical data from 209 patients with validated pathogenic variants reported in the literature and discuss TRAPS diagnosis, pathogenesis, and treatment options.
- Subjects :
- 0301 basic medicine
Review
lcsh:Chemistry
Pathogenesis
TNF inhibitors
0302 clinical medicine
AA amyloidosis
misfolding disease
Molecular Targeted Therapy
Receptor
lcsh:QH301-705.5
Spectroscopy
IL-1inhibitors
Disease Management
General Medicine
Computer Science Applications
Phenotype
Molecular Diagnostic Techniques
TNF receptor associated periodic syndrome
Receptors, Tumor Necrosis Factor, Type I
Tumor necrosis factor alpha
Disease Susceptibility
tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
Fever
Catalysis
Proinflammatory cytokine
Inorganic Chemistry
03 medical and health sciences
medicine
Humans
Genetic Predisposition to Disease
Physical and Theoretical Chemistry
Molecular Biology
030203 arthritis & rheumatology
business.industry
Organic Chemistry
Hereditary Autoinflammatory Diseases
Genetic Variation
medicine.disease
Autoinflammatory Syndrome
TNFR1
030104 developmental biology
lcsh:Biology (General)
lcsh:QD1-999
Immunology
autoinflammatory disorders
Tumor necrosis factor receptor 1
business
Biomarkers
Subjects
Details
- ISSN :
- 14220067
- Volume :
- 21
- Issue :
- 9
- Database :
- OpenAIRE
- Journal :
- International journal of molecular sciences
- Accession number :
- edsair.doi.dedup.....b61988dc32b0185442795324ccf6e69f