TNF receptor associated periodic syndrome is autosomal dominant, and about 70 mutations of the TNFRSF1A gene have been linked to this condition.[8] Its cytogenetic location is at 12p13.31.[9]
Mechanism
Macrophage
The main source of TNF (tumor necrosis factor) are cells in the immune system called macrophages which produce it in response to infection and other stimuli. TNF helps activate other immune cells and plays a major role in initiation of inflammation.[10]
Individuals with TRAPS have a mutation in the tumor necrosis factor receptor-1 (TNFR1) gene;[11] the mechanisms by which mutations in TNFR1 lead to the TRAPS phenotype are still unknown. Impaired shedding of the TNF receptor is one of the possible defects, most mutations affect the extracellular domain of the receptor, some also the cleavage site.[medical citation needed]
Diagnosis
The diagnosis of TRAPS may show an increased IgD level in a possibly affected individual, other methods to ascertain a definite finding is via the following:[3][4]
In terms of treatment for TNF receptor associated periodic syndrome, corticosteroids can be administered for the reduction of the severity of this condition, NSAIDS may be used for fever.[1]
Research
Several medications have been studied for the treatment of TNF receptor associated periodic syndrome including etanercept, and infliximab,[12]
^Liaison, Janet Austin, Office of Communications and Public (21 April 2017). "Autoinflammatory Diseases". www.niams.nih.gov. Retrieved 22 June 2017.((cite web)): CS1 maint: multiple names: authors list (link)
^Delaleu J, Deshayes S, Rodrigues F, Savey L, Rivière E, Silva NM, Aouba A, Amselem S, Rabant M, Grateau G, Giurgea I, Georgin-Lavialle S (December 2021). "Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review". Rheumatology (Oxford). 60 (12): 5775–5784. doi:10.1093/rheumatology/keab252. PMID33715002.
