CARD15 mutations in Blau syndrome.
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.
Miceli-Richard
C
C
Fondation Jean Dausset/CEPH, Paris, France.
Lesage
S
S
Rybojad
M
M
Prieur
A M
AM
Manouvrier-Hanu
S
S
Häfner
R
R
Chamaillard
M
M
Zouali
H
H
Thomas
G
G
Hugot
J P
JP
D001168:Arthritis / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D005076:Exanthema / Q000235:genetics*; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007592:Joint Diseases / Q000235:genetics*; D008297:Male; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein; D010375:Pedigree; D013577:Syndrome; D014605:Uveitis / Q000235:genetics*
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein