A New Mutation in Blau Syndrome
نویسندگان
چکیده
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.
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A new mutation in blau syndrome: case report
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عنوان ژورنال:
دوره 2015 شماره
صفحات -
تاریخ انتشار 2015