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TNF receptor associated periodic syndromeTNF receptor associated periodic syndrome (also known as TRAPS or familial Hibernian fever) is a periodic fever syndrome associated with mutations in a receptor for the molecule tumor necrosis factor (TNF) that is inheritable in an autosomal dominant manner. Individuals with TRAPS have episodic symptoms such as recurrent high fevers, rash, abdominal pain, and joint/muscle aches. Additional recommended knowledgeThe main source of TNF is 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. Individuals with TRAPS have a mutation in the tumor necrosis factor receptor-1 (TNFR1) gene. The mechanisms by which mutations in TNFR1 lead to the TRAPS phenotype are still under investigation. Several medications have been studied for the treatment of TRAPS including etanercept, infliximab[1], and tacrolimus[2]. However, no single drug has been shown to treat all cases of TRAPS. TRAPS was first described in 1982 in a boy of Scottish-Irish origin. At that time, it was named familial Hibernian fever. References
Online 'Mendelian Inheritance in Man' (OMIM) 142680 |
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "TNF_receptor_associated_periodic_syndrome". A list of authors is available in Wikipedia. |