Blau syndrome is a monogenic granulomatous autoinflammatory disease presenting with polyarthritis, rash, panuveitis and systemic manifestations resulting from gain-of-function point mutations at or near the NOD domain of the NOD2 gene.
Blau syndrome (BS) is an inflammatory disorder considered part of the spectrum of pediatric sarcoidosis and as such primarily characterized by the presence of non-caseating epithelioid giant cell granulomas in a variety of tissues and organ systems. The clinical phenotype associated with an autosomal dominant inheritance pattern was described in 1985 (Blau 1985). In 2001 a mutation in the nucleotide-binding oligomerization domain 2/caspase activation recruitment domain 15 (NOD2/CARD15) was found in four patients with Blau syndrome and with this discovery the first monogenic autoinflammatory granulomatous disease was described (Miceli-Richard et al. 2001). Blau...
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