Dinardo Laura, Brown Valerie, Perez Elena, Bunin Nancy, Sullivan Kathleen E
Division of Oncology, Children's Hospital of Philadelphia, PA 19104, USA.
Pediatr Transplant. 2012 Feb;16(1):63-72. doi: 10.1111/j.1399-3046.2011.01606.x. Epub 2011 Nov 17.
PIDD are rare inherited disorders that can result in life-threatening infections. Allogeneic HSCT is the only cure for many primary immune deficiencies; however, the specific diseases and optimal type(s) of transplants are not clear. This study compares transplant outcomes in a large cohort with a relatively uniform pre- and post-transplant management strategies. We conducted a retrospective analysis of 39 pediatric patients who underwent HSCT for SCID (n = 25) or other immune deficiencies (n = 14) from 1986 to 2010. A structured case report form was used to collect clinical information. The outcomes of survival, immune reconstitution, engraftment, incidence of GvHD and IVIG dependency were tabulated. Overall survival rates were 88% for SCID and 86% for other primary immune deficiencies, which are high compared to other historical series. No single variable was associated with mortality. Immunoglobulin dependence occurred only in patients who had X-linked SCID and a parental donor haploidentical transplant. Because of improved supportive care and use of alternative donors and conditioning regimens, HSCT has become an acceptable option for an increasing number of PIDD subtypes not previously transplanted with high frequency. This study encourages greater use of transplantation.
原发性免疫缺陷病（PIDD）是罕见的遗传性疾病，可导致危及生命的感染。异基因造血干细胞移植（HSCT）是许多原发性免疫缺陷的唯一治愈方法；然而，具体疾病和最佳移植类型尚不清楚。本研究比较了一大群患者的移植结果，这些患者在移植前后采用了相对统一的管理策略。我们对1986年至2010年间因重症联合免疫缺陷（SCID，n = 25）或其他免疫缺陷（n = 14）接受HSCT的39例儿科患者进行了回顾性分析。使用结构化病例报告表收集临床信息。将生存、免疫重建、植入、移植物抗宿主病（GvHD）发生率和静脉注射免疫球蛋白（IVIG）依赖情况制成表格。SCID患者的总体生存率为88%，其他原发性免疫缺陷患者为86%，与其他历史系列相比，这一比例较高。没有单一变量与死亡率相关。免疫球蛋白依赖仅发生在患有X连锁SCID且接受亲体单倍型相合移植的患者中。由于支持治疗的改善以及替代供体和预处理方案的使用，HSCT已成为越来越多以前未高频移植的PIDD亚型的可接受选择。本研究鼓励更多地使用移植。
