Article
The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder.
Medicine - 1 Sept 2002
Hull Keith M, Drewe Elizabeth, Aksentijevich Ivona, Singh Harjot K, Wong Kondi, McDermott Elizabeth M, Dean Jane, Powell Richard J, Kastner Daniel L
Abstract excerpt
The present report describes and expands the clinical and genetic spectrum of the autoinflammatory disorder, tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS). A total of 20 mutations have been identified since our initial discovery of 6 missense mutations in TNF receptor super family 1A (TNFRSF1A) in 1999. Eighteen of the mutations result in amino acid substitutions within the first 2...
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