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The low-penetrance R92Q mutation of the tumour necrosis factor superfamily 1A gene is neither a major risk factor for Wegener’s granulomatosis nor multiple sclerosis
  1. Dieter E Jenne1,
  2. Peer M Aries2,
  3. Simon Einwächter3,
  4. Amer D Akkad4,
  5. Stefan Wieczorek4,
  6. Peter Lamprecht2,
  7. Wolfgang L Gross2
  1. 1Department of Neuroimmunology, Max-Planck-Institute of Neurobiology, Planegg-Martinsried, Germany
  2. 2University of Schleswig-Holstein, Campus Lübeck, Rheumaklinik Bad Bramstedt, Bad Bramstedt, Germany
  3. 3Department of Neuroimmunology, Max-Planck-Institute of Neurobiology, Planegg-Martinsried, Germany
  4. 4Department of Human Genetics, Ruhr-University, Bochum, Germany
  1. Correspondence to:
    Dieter E Jenne
    Department of Neuroimmunology, Max-Planck-Institute of Neurobiology, Am Klopferspitz 18, D-82152 Planegg-Martinsried, Germany; djenne{at}neuro.mpg.de

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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

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