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Genetics and gene regulation
A novel TNFRSF1 gene mutation in a turkish family: report of three cases
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  1. F Cosan,
  2. A Yazici,
  3. A Cefle,
  4. A Gul
  1. Division of Rheumatology, Kocaeli University, Turkey

https://doi.org/10.1136/ard.2010.129619k

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    Background

    Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited rare autoinflammatory disease. It caused by mutations in exon 2–3 and 4–5 of the TNFRSF1A gene on chromosome 12p13.2. TNFRSF1A gene encodes the 55 kDa receptor for TNF. Attacks are associated with abdominal pain, myalgia, …

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