CARD15 mutations in Blau syndrome

  • Nat Genet. 2001 Sep;29(1):19-20. doi: 10.1038/ng720.
C Miceli-Richard  1 ,  S Lesage ,  M Rybojad ,  A M Prieur ,  S Manouvrier-Hanu ,  R Häfner ,  M Chamaillard ,  H Zouali ,  G Thomas ,  J P Hugot
Affiliations
  • 1. Fondation Jean Dausset/CEPH, Paris, France.
PMID: 11528384 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.