P02-010 - A novel 24 nucleotide deletion in the TNFRSF1A
نویسندگان
چکیده
Introduction TNF receptor associated periodic syndrome (TRAPS) is a rare autosomal dominant disease characterized by episodes of fever usually lasting two to three weeks, associated with severe abdominal pain, arthralgia, skin rash and red and swollen eyes. The age of onset varies from early childhood to adulthood, and the disease affects both sexes equally. Although first cases were described in individuals of Irish-Scottish descent, TRAPS has since been reported world-wide.
منابع مشابه
P02-001 – A novel TNFRSF1A mutation in periodic fever
Introduction Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory disease characterized by periodic fever, accompanying with attacks of abdominal pain, arthralgia, myalgia, erythematous rashes, periorbital edema and conjunctivitis. Mutations in the extracellular domain of the 55-kD tumor necrosis factor receptor (TNFRSF1A) has been shown ...
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Introduction TNF receptor associated periodic syndrome (TRAPS) is an autosomal dominant disease caused by gain-of-function mutations in the TNF superfamily receptor 1A (TNFRSF1A) gene encoding 55 kDa TNF receptor type I (TNFR1). TRAPS is characterized by episodes of fever accompanied by severe abdominal pain, arthralgia, myalgia, rash, chest pain, enlarged glands and red, swollen eyes. Duration...
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عنوان ژورنال:
دوره 11 شماره
صفحات -
تاریخ انتشار 2013