Hamidieh Amir Ali, Pourpak Zahra, Yari Kolsoum, Fazlollahi Mohammad Reza, Hashemi Susan, Behfar Maryam, Moin Mostafa, Ghavamzadeh Ardeshir
Hematology-Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Pediatr Transplant. 2013 Aug;17(5):487-91. doi: 10.1111/petr.12092. Epub 2013 May 29.
Partial albinism with variable immunodeficiency are the two major characteristics of Griscelli syndrome type 2 (GS-2). This syndrome is usually associated with a high mortality rate and commonly results in early childhood death. Patients suffer from different infections and experience crisis of HLH. HSCT remains the sole curative treatment for GS-2. We prospectively analyzed the outcomes of transplantation with RIC regimen in five patients. The median age at transplantation was 21.6 months (range: 12-30). All of the patients underwent HSCT from HLA-matched related donors. Currently, four patients are cured, and symptoms of recurrent infections and HLH crisis are not seen in them. The only patient who died had undergone HSCT in the accelerated phase of HLH. One patient who developed acute GvHD had a favorable response to therapy. No chronic GvHD occurred in patients. It seems that the use of RIC regimen as a method of transplant preparation is effective and tolerable in this group of patients with various comorbidities. It is recommended to carry out HSCT in these patients at lower ages, before presentations of different infections and HLH crisis.
部分白化病伴可变免疫缺陷是2型格里塞利综合征（GS-2）的两个主要特征。该综合征通常与高死亡率相关，常导致儿童早期死亡。患者会遭受不同感染并经历噬血细胞性淋巴组织细胞增生症（HLH）危机。造血干细胞移植（HSCT）仍然是GS-2的唯一治愈性治疗方法。我们前瞻性分析了5例采用减低预处理方案（RIC）进行移植的患者的结局。移植时的中位年龄为21.6个月（范围：12 - 30个月）。所有患者均接受了来自人类白细胞抗原（HLA）匹配的相关供者的HSCT。目前，4例患者已治愈，未再出现反复感染和HLH危机的症状。唯一死亡的患者是在HLH加速期接受的HSCT。1例发生急性移植物抗宿主病（GvHD）的患者对治疗反应良好。患者均未发生慢性GvHD。对于这组存在各种合并症的患者，使用RIC方案作为移植预处理方法似乎是有效且可耐受的。建议在这些患者年龄较小、尚未出现不同感染和HLH危机之前进行HSCT。
