Nat Genet. 2001 Sep;29(1):19-20.

CARD15 mutations in Blau syndrome.External

Miceli-Richard, C., Lesage, S., Rybojad, M., Prieur, A. M., Manouvrier-Hanu, S., Hafner, R., Chamaillard, M., Zouali, H., Thomas, G., Hugot, J. P.,
--- - Fondation Jean Dausset/CEPH, Paris, France.
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.
PMID: 11528384External