Familial Blau syndrome:First molecularly confirmed report from India
Indian J Ophthalmol
;
2019 Jan; 67(1): 165-167
Artigo
| IMSEAR
| ID: sea-197097
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.
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IMSEAR (Sudeste Asiático)
Revista:
Indian J Ophthalmol
Ano de publicação:
2019
Tipo de documento:
Artigo
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