Familial Blau syndrome:First molecularly confirmed report from India

Familial Blau syndrome:First molecularly confirmed report from India

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 tube...

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Bibliographic Details
Main Authors: Mahesh Janarthanan, Chanchal Poddar, S Sudharshan, Luis Seabra, Yanick J Crow
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2019-01-01
Series:Indian Journal of Ophthalmology
Subjects:
Blau syndrome
juvenile idiopathic arthritis-associated uveitis
NOD2
ocular sarcoidosis
ocular tuberculosis
Online Access:http://www.ijo.in/article.asp?issn=0301-4738;year=2019;volume=67;issue=1;spage=165;epage=167;aulast=Janarthanan
Description
Summary: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.
ISSN:0301-4738
1998-3689

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