Uveiti in patient with arcoidoi i not aociated with mutation in NOD2 (CARD15)

Purpoe Mutation in NOD2 are reponible for Blau yndrome, a ytemic dieae triad involving the uvea, joint, and kin. NOD2 mutation are alo aociated with Crohn dieae. Both Blau yndrome and Crohn dieae involve granulomatou inflammation and uveiti, a doe arcoidoi. We ought to determine if NOD2 mutation were preent in patient with arcoidoi, epecially thoe with uveiti. Method NOD2 gene exon were equenced from DNA obtained from arcoidoi patient. The diagnoe of arcoidoi and uveiti were verified from clinical record. Reult NOD2 polymorphim were found in 26 patient with arcoidoi (13 with uveiti). There wa no ignificant difference in allele frequencie between patient with and without uveiti. Concluion Depite the trikingly imilar pathologie of Blau yndrome and arcoidoi, no mutation were found to be aociated with arcoidoi in a group of patient, regardle of the preence of uveiti.