Kossiva Lydia, Theodoridou Maria, Mostrou Glykeria, Vrachnou Effie, Le Deist Francoise, Rieux-Laucat Frederick, Kanariou Maria G
1st Pediatric Clinic, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.
J Pediatr Hematol Oncol. 2006 Dec;28(12):824-6. doi: 10.1097/MPH.0b013e31802d7503.
Autoimmune lymphoproliferative syndrome (ALPS) is a disorder due to a genetic defect concerning programmed cell death (apoptosis). Most patients are carriers of a heterozygous mutation affecting the TNFRSF6 (Fas). Treatment of autoimmune complications of ALPS includes corticosteroids, gamma-globulin infusions, and in refractory cases, splenectomy, cytostatic agents, and bone marrow transplantation. A 10-year-old boy with ALPS manifested by recurrent febrile episodes, lymphadenopathy, splenomegaly, and cytopenias refractory to corticosteroid therapy is presented. Treatment with mycophenolate mofetil, an immunosuppressive agent typically used in organ transplantation was initiated. This treatment was successful with resolution of thrombocytopenia, decrease in lymphadenopathy, and improvement of his general clinical condition for over 2 years of duration.
自身免疫性淋巴细胞增生综合征（ALPS）是一种由于程序性细胞死亡（凋亡）相关基因缺陷导致的疾病。大多数患者是影响肿瘤坏死因子受体超家族成员6（Fas）的杂合突变携带者。ALPS自身免疫并发症的治疗包括使用皮质类固醇、输注γ-球蛋白，对于难治性病例，还包括脾切除术、细胞毒性药物和骨髓移植。本文介绍了一名10岁患有ALPS的男孩，其表现为反复发热、淋巴结病、脾肿大以及对皮质类固醇治疗无效的血细胞减少。开始使用霉酚酸酯进行治疗，这是一种通常用于器官移植的免疫抑制剂。该治疗取得了成功，血小板减少症得到缓解，淋巴结病减轻，其总体临床状况在超过2年的时间里得到改善。
