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- W1569650700 abstract "### Case report.The tumor necrosis factor (TNF) receptor–associated periodic syndrome (TRAPS) is an autosomally dominant inherited disorder resulting from mutations within the TNF super family 1A gene ( TNFRSF1A ), which impair cleavage of p55 TNF receptors (TNFR1), decrease soluble TNFR1 serum levels, and affect intracellular trafficking of mutant proteins.1 The associated unopposed TNFα signaling confers self-limited auto-inflammation and may promote amyloidosis. Here, we provide clinical and histologic evidence that TRAPS may affect the CNS and has to be included in the spectrum of autoimmune inflammatory CNS disorders.Our patient was diagnosed with a C55A mutation in exon 3 of the TNFRSF1A gene and had experienced recurrent attacks of fever, myalgias, arthralgias, and painful migratory rashes since childhood. At age 38 he developed brainstem and cerebellar symptoms from an extensively contrast-enhancing lesion in the left cerebellar peduncle; acute disseminated encephalomyelitis (ADEM) or lymphoma was considered.2 However, …" @default.
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- W1569650700 date "2007-03-14" @default.
- W1569650700 modified "2023-09-25" @default.
- W1569650700 title "THE TUMOR NECROSIS FACTOR-ASSOCIATED PERIODIC SYNDROME, THE BRAIN, AND TUMOR NECROSIS FACTOR- ANTAGONISTS" @default.
- W1569650700 doi "https://doi.org/10.1212/01.wnl.0000260226.21010.2b" @default.
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