TNFRSF1A-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS) and renal amyloidosis.
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.
Dodé
Catherine
C
Department of Biochemical Genetics, Cochin Hospital, Paris. catherine.dode@cch.ap-hop-paris.fr
Cuisset
Laurence
L
Delpech
Marc
M
Grateau
Gilles
G
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
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