PT  - JOURNAL ARTICLE
AU  - Joachim Havla
AU  - Peter Lohse
AU  - Lisa Ann  Gerdes
AU  - Reinhard Hohlfeld
AU  - Tania Kümpfel
TI  - 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
AID  - 10.3899/jrheum.120729
DP  - 2013 Jan 15
TA  - The Journal of Rheumatology
PG  - jrheum.120729
4099  - http://www.jrheum.org/content/early/2013/01/11/jrheum.120729.short
4100  - http://www.jrheum.org/content/early/2013/01/11/jrheum.120729.full
AB  - 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.