title: TNFRSF1A-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS) and renal amyloidosis.
abstract: TNFRSF1A-associated periodic syndrome (TRAPS) and Muckle-Wells syndrome (MWS) are two rare autosomal-dominant inherited periodic fever syndromes found in various populations. The genes involved in these syndromes are respectively TNFRSF1A (TNF receptor 1) and CIAS1 (a gene containing both pyrin and NBS domains). Missense mutations found in these genes are probably responsible for an improvement in function. Renal AA amyloidosis can also be observed.
authors.affiliation: Department of Biochemical Genetics, Cochin Hospital, Paris. catherine.dode@cch.ap-hop-paris.fr
authors.forename: Catherine
authors.initials: C
authors.lastname: Dodé
authors.forename: Laurence
authors.initials: L
authors.lastname: Cuisset
authors.forename: Marc
authors.initials: M
authors.lastname: Delpech
authors.forename: Gilles
authors.initials: G
authors.lastname: Grateau
mesh_terms: D000686:Amyloidosis / Q000235:genetics*; D015703:Antigens, CD / Q000235:genetics*; D001798:Blood Proteins / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D005334:Fever / Q000235:genetics*; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D020125:Mutation, Missense; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics*; D047888:Receptors, Tumor Necrosis Factor, Type I; D013577:Syndrome
chemical_list: D015703:Antigens, CD; D001798:Blood Proteins; D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D018124:Receptors, Tumor Necrosis Factor; D047888:Receptors, Tumor Necrosis Factor, Type I