Article
The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.
American journal of human genetics - 1 Aug 2001
Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh H H, Goldbach-Mansky R, Dean J, Athreya B, Reginato A J, Henrickson M, Pons-Estel B, O'Shea J J, Kastner D L
Abstract excerpt
Mutations in the extracellular domain of the 55-kD tumor-necrosis factor (TNF) receptor (TNFRSF1A), a key regulator of inflammation, define a periodic-fever syndrome, TRAPS (TNF receptor-associated periodic syndrome [MIM 142680]), which is characterized by attacks of fever, sterile peritonitis, arthralgia, myalgia, skin rash, and/or conjunctivitis; some patients also develop systemic amyloidosis. Elsewhere we...
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