BIRC4 Mutation: An Important Rare Cause of Uveitis.
J Clin Rheumatol
; 21(8): 444-7, 2015 Dec.
Article
em En
| MEDLINE
| ID: mdl-26513308
ABSTRACT
We report a 6-year-old man with chronic severe recalcitrant bilateral anterior uveitis and a remote history of hemophagocytic lymphocytic histiocytosis secondary to Epstein-Barr virus infection. The patient was treated for idiopathic uveitis after an initial extensive evaluation failed to reveal a specific diagnosis. The patient failed to achieve sustained inactive disease with multiple monotherapies including topical glucocorticoid, methotrexate, infliximab, mycophenolate mofeti, and cyclosporine. Disease control was finally attained with a combination of cyclosporine and adalimumab. After more recent testing, he was found to have a novel deletion on the BIRC4 (baclovirus inhibitor of apoptosis repeat containing protein 4) gene, the causative gene for X-linked lymphoproliferative syndrome type 2. We conclude that male patients with chronic idiopathic uveitis should be questioned about a history of hemophagocytic lymphocytic histiocytosis during their workup and screened for BIRC4 mutation if appropriate.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Uveíte
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Ciclosporina
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Infecções por Vírus Epstein-Barr
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Doenças Genéticas Ligadas ao Cromossomo X
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Linfo-Histiocitose Hemofagocítica
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Proteínas Inibidoras de Apoptose Ligadas ao Cromossomo X
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Adalimumab
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Transtornos Linfoproliferativos
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article