Centre for Immunodeficiency, Molecular Immunology Unit, UCL Institute of Child Health, London, United Kingdom.
Blood. 2012 Oct 25;120(17):3615-24; quiz 3626. doi: 10.1182/blood-2011-12-396879. Epub 2012 Jul 12.
Deficiency of the purine salvage enzyme adenosine deaminase leads to SCID (ADA-SCID). Hematopoietic cell transplantation (HCT) can lead to a permanent cure of SCID; however, little data are available on outcome of HCT for ADA-SCID in particular. In this multicenter retrospective study, we analyzed outcome of HCT in 106 patients with ADA-SCID who received a total of 119 transplants. HCT from matched sibling and family donors (MSDs, MFDs) had significantly better overall survival (86% and 81%) in comparison with HCT from matched unrelated (66%; P < .05) and haploidentical donors (43%; P < .001). Superior overall survival was also seen in patients who received unconditioned transplants in comparison with myeloablative procedures (81% vs 54%; P < .003), although in unconditioned haploidentical donor HCT, nonengraftment was a major problem. Long-term immune recovery showed that regardless of transplant type, overall T-cell numbers were similar, although a faster rate of T-cell recovery was observed after MSD/MFD HCT. Humoral immunity and donor B-cell engraftment was achieved in nearly all evaluable surviving patients and was seen even after unconditioned HCT. These data detail for the first time the outcomes of HCT for ADA-SCID and show that, if patients survive HCT, long-term cellular and humoral immune recovery is achieved.
嘌呤补救酶腺苷脱氨酶缺乏导致 SCID(ADA-SCID)。造血细胞移植(HCT)可以永久性治愈 SCID;然而,关于 ADA-SCID 患者 HCT 结果的数据很少。在这项多中心回顾性研究中,我们分析了 106 例接受总共 119 次移植的 ADA-SCID 患者的 HCT 结果。与匹配无关供体(MUD)和半相合供体(haploidentical donor)相比,来自匹配同胞供体(MSD)和家族供体(MFD)的 HCT 具有更好的总体存活率(86%和 81%)(P <.05)。与清髓性处理相比,未预处理的 HCT 具有更好的总体存活率(81%比 54%;P <.003),尽管在未预处理的半相合供体 HCT 中,植入失败是一个主要问题。长期免疫恢复表明,无论移植类型如何,总 T 细胞数量相似,尽管 MSD/MFD HCT 后 T 细胞恢复速度更快。几乎所有可评估的存活患者都实现了体液免疫和供体 B 细胞植入,即使在未预处理的 HCT 后也能实现。这些数据首次详细描述了 ADA-SCID 患者 HCT 的结果,并表明,如果患者存活 HCT,就可以实现长期的细胞和体液免疫恢复。