First case of somatic mosaicism in TRAPS caused by a novel 24 nucleotides deletion in the TNFRSF1A gene
نویسندگان
چکیده
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 of the attacks can range from few days to several weeks, with the onset from early childhood to adulthood.
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