Blau Syndrome - the Prototypic Autoinflammatory Granulomatous Disorder Save

The defining triad of Blau's syndrome includes granulomatous polyarthritis, dermatitis and uveitis.  This rare, monogenic, autosomal dominant disorder stems from a "gain in function" mutation of the pattern recognition receptor NOD2. This open review focuses on the clinical features and the mechanism underlying the autoinflammatory features of the disorder.