TY - JOUR T1 - Symptoms Related to Tumor Necrosis Factor Receptor 1-associated Periodic Syndrome, Multiple Sclerosis, and Severe Rheumatoid Arthritis in Patients Carrying the TNF Receptor Superfamily 1A D12E/p.Asp41Glu Mutation JF - The Journal of Rheumatology JO - J Rheumatol SP - 261 LP - 264 DO - 10.3899/jrheum.120729 VL - 40 IS - 3 AU - JOACHIM HAVLA AU - PETER LOHSE AU - LISA ANN GERDES AU - REINHARD HOHLFELD AU - TANIA KÜMPFEL Y1 - 2013/03/01 UR - http://www.jrheum.org/content/40/3/261.abstract N2 - Objective. Tumor necrosis factor (TNF) receptor 1–associated periodic syndrome (TRAPS) is an autoinflammatory disorder caused by autosomal dominantly inherited mutations in the TNF receptor superfamily 1A (TNFRSF1A) gene. The D12E substitution has been described only once to date, in a 4-year-old boy with fever. Methods. For DNA sequence analysis of the TNFRSF1A gene, genomic DNA was isolated, amplified by PCR, purified, and sequenced. Results. We describe 3 families (8 subjects) with the TNFRSF1A D12E substitution and TRAPS-related symptoms, in 4 cases associated with the autoimmune diseases multiple sclerosis and rheumatoid arthritis. Conclusion. The clinical phenotype might be associated with the TNFRSF1A D12E mutation. There is a close pathophysiological relationship between TNF signaling and autoimmune disorders. ER -