CARD15 mutations in Blau syndrome

Nat Genet. 2001 Sep;29(1):19-20. doi: 10.1038/ng720.

Abstract

We have identified three missense mutations in the nucleotide-binding domain (NBD) of CARD15/NOD2 in four French and German families with Blau syndrome. Our findings indicate that, in addition to Crohn disease, CARD15 is involved in the susceptibility to a second granulomatous disorder.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arthritis / genetics*
  • Carrier Proteins / genetics*
  • Exanthema / genetics*
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins*
  • Joint Diseases / genetics*
  • Male
  • Mutation*
  • Nod2 Signaling Adaptor Protein
  • Pedigree
  • Syndrome
  • Uveitis / genetics*

Substances

  • Carrier Proteins
  • Intracellular Signaling Peptides and Proteins
  • NOD2 protein, human
  • Nod2 Signaling Adaptor Protein