A familial case of Blau syndrome caused by a novel genetic mutation

• Main Authors: Woojoong Kim (Author), Eujin Park (Author), Yo Han Ahn (Author), Jiwon M. Lee (Author), Hee Gyung Kang (Author), Byung Joo Kim (Author), Il-Soo Ha (Author), Hae Il Cheong (Author)
• Format: Book
• Published: Korean Pediatric Society, 2016-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis. Mutations in the nucleotide oligomerization domain 2 (NOD2) gene are responsible for causing BS. To date, up to...