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TNF-Receptor Associated Periodic Syndrom (TRAPS) (also known as Periodic Fever) is inherited as an autosomal dominant condition and has been found to be due to mutations in the TNF alpha receptor 1 gene. See abstract below or follow link to PubMed (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_u ids=11722598&dopt=Abstract). Also see OMIM (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142680) Steve Davis Royal Glamorgan Hospital. Eur J Haematol 2001 Aug;67(2):105-9 Periodic fever (TRAPS) caused by mutations in the TNFalpha receptor 1 (TNFRSF1A) gene of three German patients. Rosen-Wolff A, Kreth HW, Hofmann S, Hohne K, Heubner G, Mobius D, Zintl F, Gahr M, Roesler J. Kinderklinik des Universitatsklinikum Carl Gustav Carus, Labor Klinische Forschung, Dresden, Germany. [log in to unmask] TNF-receptor-associated periodic syndrome (TRAPS) is a recently recognized disorder characterized by prolonged attacks of high fever and severe localized inflammation. TRAPS is caused by dominant mutations in the 55 kDa TNF receptor gene (TNFRSF1A). We here describe three German TRAPS patients of two families with Cys30-->Arg and Thr50-->Met mutations, respectively. Both mutations have already been observed before in other nonrelated families. 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 spot causing TRAPS is discussed. Furthermore, we describe and discuss the symptoms of our patients, possible inducers of febrile attacks, and treatments which the patients had received when their diagnoses were still unknown. PMID: 11722598 [PubMed - indexed for MEDLINE] > -----Original Message----- > From: Powell, Michael [SMTP:[log in to unmask]] > Sent: Thursday, March 20, 2003 11:52 AM > To: [log in to unmask] > Subject: TRAPS > > Can anyone help? One of our rheumatologists has a patient who he thinks > might have TRAP syndrome, (periodic fever associated with increased TNF > production apparently) and he thinks there is a genetic test available. > The local genetics lab have never heard of it (like me!) Does anybody know > anything about this? > > Mike > > ------ACB discussion List Information-------- > This is an open discussion list for the academic and clinical > community working in clinical biochemistry. > Please note, archived messages are public and can be viewed > via the internet. Views expressed are those of the individual and > they are responsible for all message content. > > ACB Web Site > http://www.acb.org.uk > List Archives > http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html > List Instructions (How to leave etc.) > http://www.jiscmail.ac.uk/ ------ACB discussion List Information-------- This is an open discussion list for the academic and clinical community working in clinical biochemistry. Please note, archived messages are public and can be viewed via the internet. Views expressed are those of the individual and they are responsible for all message content. ACB Web Site http://www.acb.org.uk List Archives http://www.jiscmail.ac.uk/lists/ACB-CLIN-CHEM-GEN.html List Instructions (How to leave etc.) http://www.jiscmail.ac.uk/