| Literature DB >> 12832748 |
Catherine Dodé1, Laurence Cuisset, Marc Delpech, Gilles Grateau.
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.Entities:
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Year: 2003 PMID: 12832748
Source DB: PubMed Journal: J Nephrol ISSN: 1121-8428 Impact factor: 3.902