periodic fever, familial, autosomal dominant

(redirected from TNF receptor-associated periodic syndrome)

periodic fever, familial, autosomal dominant

A hereditary periodic fever syndrome (OMIM:142680) characterised by recurrent fever, abdominal pain, localised tender skin lesions and myalgia. The main complication is amyloidosis, which occurs in 25% of cases.
 
Molecular pathology
Caused by defects of TNFRSF1A, which encodes a major receptor for TNF-alpha that activates NF-kappaB, mediates apoptosis and regulates inflammation.
References in periodicals archive ?
Role of tumour necrosis factor (TNF)-[alfa] and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis.
Montalban, "Role of tumour necrosis factor (TNF)-[alpha] and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis," Clinical and Experimental Immunology, vol.
Their research in human and mouse cells suggests that blocking these molecules could reduce inflammation in TNF receptor-associated periodic syndrome (TRAPS) and possibly other inflammatory diseases.