Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

CARD15 mutations in Blau syndrome.

Authors: Miceli-Richard, C  Lesage, S  Rybojad, M  Prieur, AM  Manouvrier-Hanu, S  Hafner, R  Chamaillard, M  Zouali, H  Thomas, G  Hugot, JP 
Citation: Miceli-Richard C, etal., Nat Genet. 2001 Sep;29(1):19-20.
Pubmed: (View Article at PubMed) PMID:11528384
DOI: Full-text: DOI:10.1038/ng720

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.


Disease Annotations
Phenotype Annotations
Objects Annotated

Additional Information

RGD Object Information
RGD ID: 8158040
Created: 2014-02-05
Species: All species
Last Modified: 2014-02-05
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.