Periodic Syndrome

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TRAPS, which refers to tumor necrosis factor receptor-associated periodic syndrome, is a periodic fever syndrome inherited in an autosomal dominant fashion. It stems from mutations in the TNFRSF1A gene that expresses the receptor of tumor necrosis factor (TNF)-α. A patient with TRAPS may present with prolonged episodes of fever attacks, abdominal pain, severe myalgia, and painful erythema on the trunk or extremities. Here we report a case of a 8-year-old male with febrile attacks occurring every 1-2 months and continued for 3-4 days. The patient experienced 40 ºC-fever attacks without chill. Approximately 80% of fever attacks were accompanied by abdominal manifestations. Direct sequencing analysis was utilized in order to assess the genomic…show more content…
TRAPS arises from mutations of the tumor necrosis factor receptor 1 gene (TNFRS1A) 2-5. A genome wide search demonstrated that mutations of TNFRSF1A gene at 12P13.2 exert a pivotal role in susceptibility to the disease3, 6, 7. TRAPSis inherited in an autosomal dominant fashion and genetic heterogeneity and variable penetrance is well-documented in this regard. Mutational analysis is required for confirmation of the diagnosis. Multiple mutations have by far been detected in the TNFRSF1A gene,of which 70 were associated with TRAPS1, 5, 8. Here, we report a case of TRAPS carrying a R426L mutation in the Exon10 of the TNFRSF1A gene. Presumably, it is the first case of TRAPS reported in Iran and the first R426L mutation in the Exon10 giving rise to…show more content…
Mutations of TNFRSF1A (12P13.2) gene have been demonstrated to bring about the disease1. To date, six missense mutations were discovered in the target gene subsequent to the identification of candidate locus 4. Elsewhere,four novel mutations in TNFRSF1A gene were detected 9. This leaded to screening of 18 families with patients afflicted with TRAPS-like features 10. The authors identified 3 previously reported and 8 novel mutations and concluded that genetic basis in affected members was heterogeneous. More than 144 different TNFRSF1A gene mutations have thus far been identified as causes of TRAPS (In fevers database, online at: Most of these mutations were found in Exons and Introns 2, 3, 4, and 6, as well as mutations in Exons and Introns 1, 5, 7, 8, and 10. Such mutations normally diminish shedding of TNFR1 and eliminate an endogenous antagonist to circulating TNF, resulting in long-lasting activation of TNF signals, although in some patients other mechanisms are present, which are as follows: a) an excess of retained surface TNFR1 leading to a higher susceptibility to TNF 11,b) impaired TNF-driven apoptosis because of less efficient binding of mutant receptor to TNF 12, and c) giving rise to an unfolded protein response or initiating TNF-independent signaling in the cell by misfolded mutant TNFR1

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