TNFRSF1A gen and R92Q and P46L variants. Association with other inflammatory diseases

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.