A new mutation in blau syndrome.
Article Details
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Zeybek C, Basbozkurt G, Gul D, Demirkaya E, Gok F
A new mutation in blau syndrome.
Case Rep Rheumatol. 2015;2015:463959. doi: 10.1155/2015/463959. Epub 2015 Jan 27.
- PubMed ID
- 25692065 [ View in PubMed]
- 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.