title: BIRC4 Mutation: An Important Rare Cause of Uveitis.
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.
authors.affiliation: From the Division of Rheumatology, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.
authors.forename: Matthew L
authors.initials: ML
authors.lastname: Basiaga
authors.forename: Pamela F
authors.initials: PF
authors.lastname: Weiss
authors.forename: Edward M
authors.initials: EM
authors.lastname: Behrens
mesh_terms: D000068879:Adalimumab / Q000008:administration & dosage*; D018501:Antirheumatic Agents / Q000008:administration & dosage; D002648:Child; D016572:Cyclosporine / Q000008:administration & dosage*; D020031:Epstein-Barr Virus Infections / Q000150:complications*; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis / Q000209:etiology; D008232:Lymphoproliferative Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D008297:Male; D009154:Mutation; D016896:Treatment Outcome; D014605:Uveitis / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology / Q000503:physiopathology; D051636:X-Linked Inhibitor of Apoptosis Protein / Q000172:deficiency* / Q000235:genetics
chemical_list: D018501:Antirheumatic Agents; D051636:X-Linked Inhibitor of Apoptosis Protein; C496866:XIAP protein, human; D016572:Cyclosporine; D000068879:Adalimumab