title: CARD15 mutations in Blau syndrome.
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.
authors.affiliation: Fondation Jean Dausset/CEPH, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Miceli-Richard
authors.forename: S
authors.initials: S
authors.lastname: Lesage
authors.forename: M
authors.initials: M
authors.lastname: Rybojad
authors.forename: A M
authors.initials: AM
authors.lastname: Prieur
authors.forename: S
authors.initials: S
authors.lastname: Manouvrier-Hanu
authors.forename: R
authors.initials: R
authors.lastname: Häfner
authors.forename: M
authors.initials: M
authors.lastname: Chamaillard
authors.forename: H
authors.initials: H
authors.lastname: Zouali
authors.forename: G
authors.initials: G
authors.lastname: Thomas
authors.forename: J P
authors.initials: JP
authors.lastname: Hugot
mesh_terms: 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*
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein