TNFRSF1A gen and R92Q and P46L variants. Association with other inflammatory diseases
نویسندگان
چکیده
Introduction Tumour Necrosis Factor (TNF) Receptor-Associated Periodic Syndrome (TRAPS) is an autoinflammatory disease with an autosomal dominant inheritance pattern. Structural mutations in the TNFRSF1A gen tend to have a penetrance higher than 90%, except for p.P46L and p.R92Q variants. The intensity of clinical manifestations in patients with these variants has been shown to decrease or even to disappear in the long term follow-up. It has been found a high prevalence of the R92Q mutation in patients with inflammatory diseases known to have a relevant TNF-alfa involvement.
منابع مشابه
The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry
OBJECTIVE To evaluate the genetic findings, demographic features and clinical presentation of tumour necrosis factor receptor-associated autoinflammatory syndrome (TRAPS) in patients from the Eurofever/EUROTRAPS international registry. METHODS A web-based registry collected retrospective data on patients with TNFRSF1A sequence variants and inflammatory symptoms. Participating hospitals includ...
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عنوان ژورنال:
دوره 12 شماره
صفحات -
تاریخ انتشار 2014