2. Academic Validation
  3. CARD15 mutations in Blau syndrome

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

Affiliation

  • 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.

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