Familial Blau syndrome:First molecularly confirmed report from India.
Indian J Ophthalmol
; 67(1): 165-167, 2019 Jan.
Article
em En
| MEDLINE
| ID: mdl-30574935
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.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Artrite
/
Sinovite
/
Uveíte
/
DNA
/
Técnicas de Diagnóstico Molecular
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Proteína Adaptadora de Sinalização NOD2
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Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Female
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Indian J Ophthalmol
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Índia