Clinical utility gene card for: prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes)

Eur J Hum Genet. 2015 Aug;23(8). doi: 10.1038/ejhg.2014.257. Epub 2014 Nov 19.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carrier Proteins / genetics
  • Cytoskeletal Proteins / genetics
  • Diagnosis, Differential
  • Familial Mediterranean Fever / diagnosis*
  • Familial Mediterranean Fever / genetics*
  • Familial Mediterranean Fever / pathology
  • Hereditary Autoinflammatory Diseases / diagnosis*
  • Hereditary Autoinflammatory Diseases / genetics*
  • Hereditary Autoinflammatory Diseases / pathology
  • Humans
  • Mutation
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Pyrin

Substances

  • Carrier Proteins
  • Cytoskeletal Proteins
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human
  • Pyrin
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase