P02-011 - TRAPS syndrome debuted as systemic JIA
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منابع مشابه
P02-011 - TRAPS syndrome debuted as systemic JIA
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 o...
متن کاملP02-013 - TH17 cells and regulatory T cells in TRAPS
Introduction The immunopathogenesis of TRAPS is thought to centre on activation of the innate immune system resulting in episodic inflammation. The adaptive immune system, Tregs and Th17 T cells, has not been studied in TRAPS. Different anti-TNF agents have different clinical effects on TRAPS i.e. etanercept has benefits but adalimumab and infliximab may trigger flares of TRAPS. It has been sho...
متن کاملP02-017 - Periodic fever syndrome masquerading as eczema…
Case Report A 22 year-old woman presented with a six-year history of periodic fevers, skin and joint disease. She presented with an intermittent, intensely pruritic red rash on the torso and extremities, associated with recurrent non-axial joint pain and swelling, and periodic fevers lasting for days to weeks. These symptoms were triggered by exposure to heat, cold weather, dry air, and sweat. ...
متن کاملMEFV mutations in systemic JIA
Results 2 carrier for M694V and two patients who were homozygote for MEFV mutations. Both of these patients were among the most severe patients in the group. One had an excellent response to etanercept whereas the other was resistant to anti-TNF and other conventional treatments and had only a partial response to thalidomide. Although the number of severe mutations were increased in this small ...
متن کاملP02-009 - Candle syndrome: expanding spectrum
Introduction CANDLE syndrome is an exceptional inflammatory condition starting within the first months of life, and comprising elevated fever, panniculitis with lipoatrophy, purplish and swollen eyelids, arthralgia, and developmental retardation. Most patients carry homozygous mutations in the PSMB8 gene that impair the assembly of the immunoproteasome (iP) and lead to interferon g deregulation...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a118