The role of somatic NLRP3 mosaicism and new gene discovery in mutation negative cryopyrin-associated periodic syndrome patients

نویسندگان

  • Sonia Melo Gomes
  • Joan Arostegui
  • Ebun Omonyinmi
  • Eva Gonzalez-Roca
  • Ariane Standing
  • Dorota Rowczenio
  • Sira Nathanpisal
  • Claire Murphy
  • Despina Elephteriou
  • Nigel Klein
  • Philip Hawkins
  • Helen Lachmann
  • Paul Brogan
چکیده

Introduction Cryopyrin associated periodic syndromes (CAPS) are caused by autosomal dominant gain of function mutations in the NLRP3 gene. However, up to 50% of clinically diagnosed CAPS patients with typical clinical features and good response to anti-IL-1b treatment have no mutation detected by conventional Sanger DNA sequencing. Recent studies suggest that somatic NLRP3 mosaicism may account for a proportion of these apparently “mutationnegative” patients. Another possible explanation is that CAPS can be caused by other genetic mutations.

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عنوان ژورنال:

دوره 12  شماره 

صفحات  -

تاریخ انتشار 2014