Forskning ved Københavns Universitet - Københavns Universitet

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A new mutation causing autosomal dominant periodic fever syndrome in a Danish family.

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  • Heike Weyhreter
  • Marianne Schwartz
  • Tim D Kristensen
  • Niels Henrik Valerius
  • Anders Pærregaard
We describe four members in a family of 8 individuals over 3 generations with the autosomal dominant inherited periodic fever syndrome tumor necrosis factor receptor-associated periodic syndrome (TRAPS). The patients had recurrent episodes of fever, abdominal pain, arthritis, and rash. We examined the gene coding for the tumor necrosis factor receptor TNFRSF1A in all first-degree family members. In all 4 symptomatic members of the family, a hitherto undescribed mutation C98Y (380G-->A) in the TNFRSF1A gene was identified. In contrast, this mutation was not found in the 4 family members reported to be healthy nor in 50 normal control patients. The youngest member of the family, a 2-year-old boy, was treated successfully with etanercept.
OriginalsprogEngelsk
TidsskriftJournal of Pediatrics
Vol/bind142
Udgave nummer2
Sider (fra-til)191-193
Antal sider3
ISSN0022-3476
StatusUdgivet - 2003

ID: 34051459