Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes
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DOI：
10.1182/blood-2012-06-432500
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发表时间：
2013-02-07
期刊：
影响因子：
20.3
通讯作者：
Filipovich, Alexandra H.
中科院分区：
文献类型：
--
作者：
Marsh, Rebecca A.;Rao, Kanchan;Filipovich, Alexandra H.
目前还没有关于X连锁细胞凋亡抑制因子（XIAP）缺乏症患者异基因造血细胞移植（HCT）后患者结局的研究。为了评估HCT的成功率，我们进行了一项移植结果的国际调查。报告了19例患者的数据。7例患者接受含白消安的清髓性预处理（MAC）方案。11例患者接受了主要由Alemtuzumab、氟达拉滨和美法仑组成的降低强度预处理（RIC）方案。1例患者接受了中等强度方案。MAC组的生存率很低，只有1名患者存活（14%）。大多数死亡是由于移植相关的毒性，包括静脉闭塞性疾病和肺出血。在接受RIC的11例患者中，6例目前在HCT后中位存活570天（55%）。治疗方案和HLH活性影响预后，据报道，RIC患者HLH缓解，生存率为86%（P = 0.03）。我们的结论是MAC方案不应用于XIAP缺陷的患者。XIAP及其抗凋亡功能的丧失可能导致MAC方案观察到的毒性的高发生率。应谨慎采用RIC方案，如果可能，应努力确保这些患者在HCT前HLH缓解。（血。2013;121（6）：877-883）
There have been no studies on patient outcome after allogeneic hematopoietic cell transplantation (HCT) in patients with X-linked inhibitor of apoptosis (XIAP) deficiency. To estimate the success of HCT, we conducted an international survey of transplantation outcomes. Data were reported for 19 patients. Seven patients received busulfan-containing myeloablative conditioning (MAC) regimens. Eleven patients underwent reduced intensity conditioning (RIC) regimens predominantly consisting of alemtuzumab, fludarabine, and melphalan. One patient received an intermediate-intensity regimen. Survival was poor in the MAC group, with only 1 patient surviving (14%). Most deaths were from transplantation-related toxicities, including venoocclusive disease and pulmonary hemorrhage. Of the 11 patients who received RIC, 6 are currently surviving at a median of 570 days after HCT (55%). Preparative regimen and HLH activity affected outcomes, and of RIC patients reported to be in remission from HLH, survival is 86% (P = .03). We conclude that MAC regimens should not be used for patients with XIAP deficiency. It is possible that the loss of XIAP and its antiapoptotic functions contributes to the high incidence of toxicities observed with MAC regimens. RIC regimens should be pursued with caution and, if possible, efforts should be made to ensure HLH remission before HCT in these patients. (Blood. 2013;121(6):877-883)