Published in:
Open Access
01-11-2013 | Meeting abstract
P02-011 - TRAPS syndrome debuted as systemic JIA
Authors:
T Sleptsova, E Alexeeva, E Mitenko, S Valieva, T Bzarova, R Denisova, K Isaeva
Published in:
Pediatric Rheumatology
|
Special Issue 1/2013
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Excerpt
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. …