Division of Immunology/Allergy, The Canadian Centre for Primary Immunodeficiency, The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.
Immunol Allergy Clin North Am. 2010 May;30(2):209-19. doi: 10.1016/j.iac.2010.03.001.
Typical cases of severe combined immunodeficiency present at infancy (most frequently at 6 months of age) with repeated opportunistic infections; failure to thrive; and scarcity of lymphoid tissues, including undetectable lymph nodes and a small dysplastic thymus. Patients with profound T-cell dysfunction (PTD)/combined immunodeficiency (CID) have moderate to large numbers of circulating autologous lymphocytes with variable residual function. These cells may interfere with proper engraftment and may complicate the procedure of HSCT, hence the need for conditioning. There is no immediate explanation for the excellent outcome of hematopoietic stem cell transplantation (HSCT) for PTD/CID. Historically, protocols for mismatched related donor HSCT did not include conditioning regimens, which could jeopardize engraftment. Careful studies on the role of conditioning, especially myeloablative conditioning, should be conducted in the future. It is possible that in some genotypes, related identical donor can be accepted by the recipient with little or no conditioning. Until such studies become instructive, the protocols in current use seem to provide excellent, although not perfect, outcome in patients with PTD/CID.
典型的严重联合免疫缺陷病例在婴儿期（最常见于 6 个月大时）出现，表现为反复发生机会性感染；生长发育不良；淋巴组织稀少，包括无法检测到的淋巴结和发育不良的小胸腺。严重 T 细胞功能障碍（PTD）/联合免疫缺陷（CID）患者有中等至大量的循环自体淋巴细胞，其残留功能存在差异。这些细胞可能会干扰适当的植入，并使 HSCT 程序复杂化，因此需要进行预处理。对于 PTD/CID 患者，造血干细胞移植（HSCT）的出色结果没有立即的解释。从历史上看，不匹配相关供体 HSCT 的方案不包括预处理方案，这可能会危及植入。未来应仔细研究预处理的作用，特别是清髓性预处理。在某些基因型中，相关的同基因供体可能在几乎不需要或不需要预处理的情况下被受者接受。在这些研究具有指导意义之前，目前使用的方案似乎为 PTD/CID 患者提供了出色的、尽管不是完美的结果。
