Familial Blau syndrome:First molecularly confirmed report from India
oleh: Mahesh Janarthanan, Chanchal Poddar, S Sudharshan, Luis Seabra, Yanick J Crow
| Format: | Article |
|---|---|
| Diterbitkan: | Wolters Kluwer Medknow Publications 2019-01-01 |
Deskripsi
Blau syndrome (BS) is a rare autoinflammatory disorder characterized by the clinical triad of arthritis, uveitis, and dermatitis due to heterozygous gain-of-function mutations in the NOD2 gene. BS can mimic juvenile idiopathic arthritis (JIA)-associated uveitis, rheumatoid arthritis, and ocular tuberculosis. We report a family comprising a mother and her two children, all presenting with uveitis and arthritis. A NOD2 mutation was confirmed in all the three patients – the first such molecularly proven case report of familial BS from India.