Periodic fever (TRAPS) caused by mutations in the TNF alpha receptor 1 (TNFRSF1A) gene of three German patients

TNF-receptor-associated periodic syndrome (TRAPS) is a recently recognized disorder characterized by prolonged attacks of high fever and severe locali zed inflammation. TRAPS is caused by dominant mutations in the 55 kDa TNF r eceptor gene (TNFRSF1A). We here describe three German TRAPS patients of tw o families with Cys30 --> Arg and Thr50 --> Met mutations, respectively. Bo th mutations have already been observed before; in other nonrelated familie s. The Thr50 --> Met amino acid exchange, caused by an ACG-ATG transition, has been reported in two other families of different ethnic background. The possibility that the ACG --> ATG sequence alteration is a mutational hot s pot causing TRAPS is discussed. Furthermore, we describe and discuss the sy mptoms of our patients, possible inducers of febrile attacks, and treatment s which the patients had received when their diagnoses were still unknown.