Open AccessFamilial Blau syndrome:First molecularly confirmed report from India
Author(s) -
Mahesh Janarthanan,
Chanchal Poddar,
Sridha Sridharan,
Luis Seabra,
Yanick J. Crow
Publication year - 2019
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/ijo.ijo_671_18
Subject(s) - medicine , uveitis , arthritis , dermatology , nod2 , juvenile rheumatoid arthritis , rheumatoid arthritis , immunology , immune system , innate immune system
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.