A case of cryopyrin-associated periodic fever syndrome due to Q703K mutation in the NLRP3 gene

Int J Rheum Dis. 2017 Dec;20(12):2233-2235. doi: 10.1111/1756-185X.12991. Epub 2016 Dec 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Arthritis, Juvenile / diagnosis
  • Child
  • Cryopyrin-Associated Periodic Syndromes / diagnosis
  • Cryopyrin-Associated Periodic Syndromes / drug therapy
  • Cryopyrin-Associated Periodic Syndromes / genetics*
  • Diagnosis, Differential
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Mutation*
  • NLR Family, Pyrin Domain-Containing 3 Protein / genetics*
  • Phenotype
  • Predictive Value of Tests
  • Treatment Outcome

Substances

  • Immunosuppressive Agents
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human