Blau syndrome-associated uveitis and the NOD2 gene.

Abstract excerpt

Blau syndrome (BS), a rare autosomal dominant autoinflammatory syndrome, is an example of a monogenic disease. It was first described as a classic triad of uveitis, arthritis, and exanthema, typically seen in patients less than four years of age. Since that time, the phenotype has been expanded to include fever, cranial neuropathies, cardiovascular abnormalities, and granulomas of the liver and kidney. The ocular...

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