Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16.

ABSTRACT: Blau syndrome (MIM 186580), first described in a large, three-generation kindred, is an autosomal, dominantly inherited disease characterized by multiorgan, tissue-specific inflammation. Its clinical phenotype includes granulomatous arthritis, skin rash, and uveitis and probably represents a subtype of a group of clinical entities referred to as "familial granulomatosis." It is the sole human model with recognizably Mendelian inheritance for a variety of multisystem inflammatory diseases affecting a significant percentage of the population. A genomewide search for the Blau susceptibility locus was undertaken after karyotypic analysis revealed no abnormalities. Sixty-two of the 74-member pedigree were genotyped with dinucleotide-repeat markers. Linkage analysis was performed under a dominan

SUBMITTER: Tromp G 

PROVIDER: S-EPMC1914842 | biostudies-literature | 1996 Nov

REPOSITORIES: biostudies-literature