MEFV mutations in systemic JIA

نویسندگان

  • N Aktay Ayaz
  • Y Bilginer
  • E Yilmaz
  • M Ergüven
  • R Topaloglu
  • A Bakkaloglu
  • S Ozen
چکیده

Results 2 carrier for M694V and two patients who were homozygote for MEFV mutations. Both of these patients were among the most severe patients in the group. One had an excellent response to etanercept whereas the other was resistant to anti-TNF and other conventional treatments and had only a partial response to thalidomide. Although the number of severe mutations were increased in this small group of patients with systemic JIA the difference with the Turkish population did not reach statistical significance, but the disease causing mutation (M694V) was significantly high in the patients with systemic JIA(p = 0.02).

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عنوان ژورنال:

دوره 6  شماره 

صفحات  -

تاریخ انتشار 2008