AU - Janarthanan, Mahesh
AU - Poddar, Chanchal
AU - Sudharshan, S
AU - Seabra, Luis
AU - Crow, Yanick
TI - Familial Blau syndrome:First molecularly confirmed report from India
PT - CASE
DP - 2019 Jan 1
TA - Indian Journal of Ophthalmology
PG - 165-167
VI - 67
IP - 1
4099- https://journals.lww.com/ijo/pages/default.aspx/article.asp?issn=0301-4738;year=2019;volume=67;issue=1;spage=165;epage=167;aulast=Janarthanan;type=0
4100- https://journals.lww.com/ijo/pages/default.aspx/article.asp?issn=0301-4738;year=2019;volume=67;issue=1;spage=165;epage=167;aulast=Janarthanan
AB -
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.