Atypical presentation of a cryopyrin-associated periodic syndrome, revealing a novel NLRP3 mutation

Clin Immunol. 2013 Aug;148(2):299-300. doi: 10.1016/j.clim.2013.05.020. Epub 2013 Jun 12.
No abstract available

Keywords: Autoinflammatory disease; CAPS; Urticaria.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Cryopyrin-Associated Periodic Syndromes / genetics*
  • Cryopyrin-Associated Periodic Syndromes / pathology*
  • Female
  • Heterozygote
  • Humans
  • Mutation
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Polymorphism, Genetic
  • Serum Amyloid A Protein / metabolism
  • Young Adult

Substances

  • Carrier Proteins
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human
  • Serum Amyloid A Protein