PReS-FINAL-2235: Overlap of homozygous TNFRSF1A R92Q mutation with MEVF E148Q mutation versus homozygous TNFRSF1A R92Q mutation: difference in clinical profile in two sisters from Oman

نویسندگان

  • R Abdwani
  • S Abrawi
  • E Ibraheem
  • K Al Thuhli
چکیده

Introduction Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is a multifaceted auto inflammatory syndrome which was initially described in persons of Irish-Scottish ancestry and in ethnic groups of northern European descent. To date, more than 70 mutations have been described. Since then, it has been described in other ethnicities. There have been few reports of from Asia, 11 cases have been described from Japan, and only one case of TRAPS has been described in an Arab child from Israel (1-8).There are no cases of TRAPS that have been described from Gulf Arab states.

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عنوان ژورنال:

دوره 11  شماره 

صفحات  -

تاریخ انتشار 2013