Review Articles
TNF receptor-associated periodic syndrome (TRAPS) in Japan: clinical characterization, pathogenesis, diagnostic criteria, and treatment
2007 Volume 30 Issue 2 Pages 90-100
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2007 Volume 30 Issue 2 Pages 90-100
TNF receptor-associated periodic syndrome (TRAPS) is an autosomal dominant inherited disease characterized by prolonged episodes of periodic fever and localized inflammation. The hypothetical pathogenesis of TRAPS is defective TNF receptor 1 (TNFRSF1A) shedding from cell membranes in response to a stimulus including TNFα. This mechanism has recently been shown to account for a minor population of TRAPS patients and other mechanisms are reported to explain the disease, such as resistance to apoptosis, TNFRSF1A internalization, or TNFRSF1A misfolding and aggregation, leading to NF-κB activation and apoptosis.
Until now 15 TRAPS patients from 5 pedigree including 5 different mutations (C30R, C30Y, T61I, C70S, C70G) had been reported in Japan. There were many sporadic cases of TRAPS without TNFRSF1A mutation in our epidemiological study.
In this issue, we described the clinical characterization, pathogenesis, diagnostic criteria, and treatment of TRAPS according to our case and literature.
