Survival and Disease Correction Following Hematopoietic Cell Transplantation of W

关于造血细胞移植（HCT）结局的信息，目前唯一可用的 目前还缺乏对Wiskott-Aldrich综合征（WAS）和慢性肉芽肿病（CGD）患者的治疗方法 由于这些疾病的相对罕见，以及各中心之间缺乏协调努力， 收集这些病人的完整数据此外，HCT仍然存在两种发病率的显著风险 和死亡率，而使用常规治疗对这些疾病的管理继续改善。 此外，基因治疗的持续进展使得确定影响基因治疗的因素变得至关重要。 移植结果以及确定哪些患者将从移植中受益最多。目标 项目3的目的是对WAS进行HCT后的结局进行回顾性和横断面研究， 在北美进行CGD，以描述该手术对这两种患者的风险和受益 罕见的免疫系统疾病具体目的是：1）表征生物因子， 确定WAS的生存率、免疫重建和长期结局; 2）确定WAS的关键 预测CGD HCT后生存率和疾病纠正的因素，并确定那些 应该接受HCT检查我们将使用回顾性、横断面和纵向研究来检验假设 关于在WAS和CGD中纠正疾病表现所需的供体植入程度， 以及最有可能从HCT中获益的CGD患者类型。联合体的发展将使 从足够数量的患者中收集分子和临床数据，以获得统计学 这是我们分析中的重要性，否则一个单一的机构是不可能做到的。我们有 在治疗这些疾病的患者的专业知识，并在作为转诊中心的机构工作， 这些患者是这些研究成功的关键因素。获得的信息不仅会被使用 指导将来WAS和CGD患者的移植，但也可能对患者有益 与其他免疫缺陷，甚至那些与其他非恶性血液条件。

Information regarding the outcomes of hematopoietic cell transplantation (HCT), currently the only available cure for patients with Wiskott Aldrich syndrome (WAS) and Chronic granulomatous disease (CGD), is lacking due to the relative rarity of these diseases, and the lack of a coordinated effort amongst centers to collect and compile complete data on these patients. Moreover, HCT still entails significant risk of both morbidity and mortality, while management of these disorders using conventional treatments continues to improve. Furthermore, continuing advances in gene therapy make it essential to identify factors that impact on transplant outcomes as well as to identify those patients who would benefit most from transplant. The Goal of Project 3 is to undertake retrospective and cross sectional studies of outcomes after HCT for WAS and CGD performed in North America in order to delineate the risks and benefits of this procedure for these two rare disorders of the immune system. The Specific Aims are: 1) To characterize the biologic factors which determine survival, immune reconstitution and long term outcomes in WAS and 2) To determine the critical factors that predict survival and disease correction following HCT for CGD and identify those patients who should receive an HCT. Using retrospective, cross sectional and longitudinal studies we will test hypotheses concerning the degree of donor engraftment necessary to correct disease manifestations in WAS and CGD, and the type of patient with CGD most likely to benefit from HCT. The development of a consortium will allow the collection of both molecular and clinical data from a sufficient number of patients to obtain statistical significance in our analyses, which would not otherwise be possible by a single institution. We have expertise in treating patients with these disorders and work at institutions that serve as referral centers for these patients, a crucial factor in the success of these studies. The information obtained will not only be used to guide transplantation for patients with WAS and CGD in the future, but may also be beneficial for patients with other immunodeficiencies and even those with other non-malignant hematologic conditions.