An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K

Rheumatology (Oxford). 2011 Feb;50(2):419-20. doi: 10.1093/rheumatology/keq280. Epub 2010 Sep 5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Antirheumatic Agents / therapeutic use*
  • Carrier Proteins / genetics*
  • Child
  • Cryopyrin-Associated Periodic Syndromes / genetics*
  • Female
  • Humans
  • Interleukin 1 Receptor Antagonist Protein / therapeutic use*
  • Male
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Pedigree
  • Phenotype
  • Young Adult

Substances

  • Antirheumatic Agents
  • Carrier Proteins
  • Interleukin 1 Receptor Antagonist Protein
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human