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CASE REPORT
Year : 2019  |  Volume : 67  |  Issue : 1  |  Page : 165-167

Familial Blau syndrome:First molecularly confirmed report from India


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

Correspondence Address:
Dr. S Sudharshan
Medical Research Foundation, Sankara Nethralaya, No. 41 (old 18), College Road, Chennai - 600 006, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_671_18

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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.


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