First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes

Ann Rheum Dis. 2013 Jun;72(6):1109-10. doi: 10.1136/annrheumdis-2012-202913. Epub 2013 Mar 13.
No abstract available

Keywords: Fever Syndromes; Inflammation; Qualitative research.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carrier Proteins / genetics*
  • Cryopyrin-Associated Periodic Syndromes / genetics*
  • Female
  • Germ-Line Mutation / genetics*
  • Humans
  • Male
  • Mosaicism
  • Mutation / genetics
  • NLR Family, Pyrin Domain-Containing 3 Protein

Substances

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