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Indian J Ophthalmol. 2019 Jan;67(1):165-167. doi: 10.4103/ijo.IJO_671_18.

Familial Blau syndrome:First molecularly confirmed report from India.

Author information

1
Division of Pediatric Rheumatology, Department of Pediatrics, Sri Ramachandra University, Chennai, Tamil Nadu, India.
2
Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India.
3
INSERM UMR1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France.
4
INSERM UMR1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

Abstract

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.

KEYWORDS:

Blau syndrome; NOD2; juvenile idiopathic arthritis-associated uveitis; ocular sarcoidosis; ocular tuberculosis

PMID:
30574935
DOI:
10.4103/ijo.IJO_671_18
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