title: 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.
authors.affiliation: Pediatric Nephrology Department, Gulhane Military Medical Academy, Etlik, Kecioren, 06010 Ankara, Turkey.
authors.forename: Cengiz
authors.initials: C
authors.lastname: Zeybek
authors.affiliation: Pediatrics Department, Gulhane Military Medical Academy, Etlik, Kecioren, 06010 Ankara, Turkey.
authors.forename: Gokalp
authors.initials: G
authors.lastname: Basbozkurt
authors.affiliation: Medical Genetics Department, Gulhane Military Medical Academy, Etlik, Kecioren, 06010 Ankara, Turkey.
authors.forename: Davut
authors.initials: D
authors.lastname: Gul
authors.affiliation: Pediatric Rheumatology and Nephrology Department, Gulhane Military Medical Academy, Etlik, Kecioren, 06010 Ankara, Turkey.
authors.forename: Erkan
authors.initials: E
authors.lastname: Demirkaya
authors.affiliation: Pediatric Rheumatology and Nephrology Department, Gulhane Military Medical Academy, Etlik, Kecioren, 06010 Ankara, Turkey.
authors.forename: Faysal
authors.initials: F
authors.lastname: Gok