Basiaga Matthew L, Weiss Pamela F, Behrens Edward M
From the Division of Rheumatology, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.
J Clin Rheumatol. 2015 Dec;21(8):444-7. doi: 10.1097/RHU.0000000000000327.
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.
我们报告了一名6岁男性，患有慢性重度顽固性双侧前葡萄膜炎，既往有因爱泼斯坦-巴尔病毒感染继发噬血细胞性淋巴细胞组织细胞增生症的病史。在最初的全面评估未能得出明确诊断后，该患者被诊断为特发性葡萄膜炎并接受治疗。患者采用包括局部糖皮质激素、甲氨蝶呤、英夫利昔单抗、霉酚酸酯和环孢素在内的多种单一疗法均未能实现疾病持续缓解。最终，环孢素和阿达木单抗联合使用实现了疾病控制。在最近的检测中，发现他的BIRC4（含杆状病毒凋亡重复抑制蛋白4）基因存在一种新的缺失，该基因是2型X连锁淋巴增殖性综合征的致病基因。我们得出结论，患有慢性特发性葡萄膜炎的男性患者在检查过程中应询问其噬血细胞性淋巴细胞组织细胞增生症病史，并在适当情况下筛查BIRC4突变。
