Article
A new mutation causing autosomal dominant periodic fever syndrome in a Danish family.
The Journal of pediatrics - 1 Feb 2003
Weyhreter Heike, Schwartz Marianne, Kristensen Tim D, Valerius Niels H, Paerregaard Anders
Abstract excerpt
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...
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