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- MS, multiple sclerosis
- TNFRSF1A, tumour necrosis factor receptor superfamily 1A
- TRAPS, TNFR-associated periodic syndrome
- WG, Wegener’s granulomatosis
Inherited autosomal-dominant mutations in the tumour necrosis factor receptor superfamily 1A (TNFRSF1A) gene encoding the tumour necrosis factor receptor p55 (TNF-R1) are the cause of an auto-inflammatory syndrome that is characterized by periodic fever attacks, aseptic peritonitis, arthritis, meningitis, conjunctivitis, pleuritis and skin rash (OMIM #142680). The most common TNFR-associated periodic syndrome (TRAPS)-like disease that is associated with a R92Q mutation, however, occurs sporadically, with later onset (median 23 years vs 7 years with other mutations) and a milder and often oligosymptomatic course.1,2 Intriguingly, carriers of the R92Q allele bear a slightly increased risk for some other diseases, such as myocardial infarction,3 increased carotid intima-media thickness,3 thrombotic complications in Behcet’s disease4 and early synovitis.1
Due to the low …
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