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Article

A novel mutation in the<i>NOD2</i>gene associated with Blau syndrome: a Norwegian family with four affected members

1 Jan 2009

Abstract excerpt

BACKGROUND: Blau syndrome is a chronic granulomatous disease with an autosomal dominant trait characterized by the triad granulomatous dermatitis, arthritis, and uveitis. It is caused by mutations in the NOD2 gene, also termed the CARD15 gene. OBJECTIVE: To report a novel mutation in the NOD2 gene associated with Blau syndrome. METHODS AND RESULTS: The proband was a 68-year-old ethnic Norwegian male who had...

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PMID: 19169908
DOI: 10.1080/03009740802464194

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