BIRC4 Mutation: An Important Rare Cause of Uveitis. Issue 8 (December 2015)

• Record Type: Journal Article
• Authors: Basiaga, Matthew L.; Weiss, Pamela F.; Behrens, Edward M.
• Is Part Of: Journal of clinical rheumatology. Volume 21:Issue 8(2015:Dec.)
• Publication Date: 2015-12
• Subjects: BIRC4 mutation -- XIAP deficiency -- XLP 2 -- uveitis; Rheumatism -- Periodicals; Rheumatology -- Periodicals; Musculoskeletal system -- Diseases -- Periodicals; Musculoskeletal Diseases -- Periodicals; Rheumatic Diseases -- Periodicals; Rhumatisme -- Périodiques; Rhumatologie -- Périodiques; Appareil locomoteur -- Maladies -- Périodiques; Musculoskeletal system -- Diseases; Rheumatism; Rheumatology; Periodicals; 616.723005
• DOI: 10.1097/RHU.0000000000000327
• Languages: English
• ISSNs: 1076-1608

Abstract

Abstract : 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.