OR6-006 – IL36RN alleles in skin auto-inflammation

نویسندگان

  • F Capon
  • N Setta-Kaffetzi
  • D Berki
  • S Mahil
  • A Navarini
  • VM Patel
  • C Siew-Eng
  • AD Burden
  • C Griffiths
  • M Seyger
  • R Trembath
  • C Smith
  • J Barker
چکیده

Results We found IL36RN recessive mutations in patients with GPP (7/84) and localised pustular psoriasis (2/9 cases of Acrodermatitis Continua of Hallopeau and 3/139 cases of plamar-plantar pustulosis), but not among PV cases. Of note, we also identified several affected individuals who carried a single heterozygous mutation. In fact, we uncovered a significant enrichment of heterozygous IL36RN alleles among patients with pustular psoriasis (frequency in cases 1.4% vs. 0.3% in controls, P=0.004), but not among subjects with PV (0.4% cases vs. 0.3% controls, P=0.77).

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عنوان ژورنال:

دوره 11  شماره 

صفحات  -

تاریخ انتشار 2013