P02-011 - TRAPS syndrome debuted as systemic JIA
نویسندگان
چکیده
Introduction Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is characterized by periodic fever, cutaneous rash, conjunctivitis, lymphadenopathy, abdominal pain, myalgia, and arthralgia. It is a rare autosomal dominant disease and strongly associated with heterozygous mutations in the tumor necrosis factor (TNF) receptor super family 1A (TNFRSF1A) gene. The great diversity of manifestations and the difficulties in genetic analyses make the diagnosing of this disease a challenge. Our aim was to report on case of autoinflammatory syndromes that is considered to be rare entity.
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Introduction Systemic reactive (AA) amyloidosis represents the most important complication within TNF receptor associated periodic syndrome (TRAPS), familial Mediterranean fever (FMF) and other autoinflammatory syndromes, progressively leading to endstage renal failure. The homozygous condition of the serum amyloid A (SAA) variant SAA1.1 is significantly associated with the occurrence of AA amy...
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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 TNFRSF1A is involved in a Mendelian autosomal dominant autoinflammatory disorder called TNFR-associated periodic syndrome (TRAPS). Most TNFRSF1A mutations are missense changes and, apart from those affecting conserved cysteines, their deleterious effect remains often questionable. This is especially true for the frequent R92Q mutation, which might not be responsible for TRAPS per s...
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