A new mutation in blau syndrome.

ABSTRACT: Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis. Blau syndrome is related to mutations located at the 16q12.2-13 gene locus. To date, 11 NOD2 gene mutations causing Blau syndrome have been described. Here, we describe a 5-year-old male patient who presented with Blau syndrome associated with a novel sporadic gene mutation that has not been reported previously.

SUBMITTER: Zeybek C 

PROVIDER: S-EPMC4322824 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature