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. 1996 Nov;59(5):1097–1107.

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

G Tromp 1, H Kuivaniemi 1, S Raphael 1, L Ala-Kokko 1, A Christiano 1, E Considine 1, R Dhulipala 1, J Hyland 1, A Jokinen 1, S Kivirikko 1, R Korn 1, S Madhatheri 1, S McCarron 1, L Pulkkinen 1, H Punnett 1, K Shimoya 1, L Spotila 1, A Tate 1, C J Williams 1
PMCID: PMC1914842  PMID: 8900239

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 dominant model of inheritance with reduced penetrance. The marker D16S298 gave a maximum LOD score of 3.75 at theta = .04, with two-point analysis. LOD scores for flanking markers were consistent and placed the Blau susceptibility locus within the 16p12-q21 interval.

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Selected References

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