Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.
Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.
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DOI：
10.1007/s10875-016-0348-4
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发表时间：
2017-01
影响因子：
9.1
通讯作者：
Kanegane H
中科院分区：
文献类型：
--
作者：
Ono S;Okano T;Hoshino A;Yanagimachi M;Hamamoto K;Nakazawa Y;Imamura T;Onuma M;Niizuma H;Sasahara Y;Tsujimoto H;Wada T;Kunisaki R;Takagi M;Imai K;Morio T;Kanegane H
X连锁凋亡抑制蛋白（XIAP）缺乏症是一种罕见的免疫缺陷，其特征是反复发生的噬血细胞性淋巴组织细胞增多症（HLH）和脾肿大，有时与难治性炎症性肠病（IBD）有关。虽然造血干细胞移植（HSCT）是唯一的治愈性治疗，但与SLAM相关蛋白缺乏症和家族性HLH相比，XIAP缺乏症的HSCT结局仍不令人满意。为了调查XIAP缺陷患者HSCT的结局和不良事件，进行了一项全国性调查。将电子表格问卷发送给在日本为XIAP缺乏症患者提供HSCT治疗的医生。截至2016年9月底，日本有10例XIAP缺陷患者接受了HSCT，其中9例（90%）存活。所有存活患者均接受了基于氟达拉滨的降低强度预处理（RIC）方案。虽然5例患者发生HSCT后HLH，但其中4例在给予足叶乙甙后存活。此外，在所有受影响的病例中，与XIAP缺陷相关的IBD在HSCT后显著改善。RIC方案和HLH控制可能是XIAP缺陷患者HSCT成功结局的重要因素，改善IBD。本文的在线版本（doi：10.1007/s10875-016-0348-4）包含补充材料，可供授权用户使用。
X-linked inhibitor of apoptosis protein (XIAP) deficiency is a rare immunodeficiency that is characterized by recurrent hemophagocytic lymphohistiocytosis (HLH) and splenomegaly and sometimes associated with refractory inflammatory bowel disease (IBD). Although hematopoietic stem cell transplantation (HSCT) is the only curative therapy, the outcomes of HSCT for XIAP deficiency remain unsatisfactory compared with those for SLAM-associated protein deficiency and familial HLH. To investigate the outcomes and adverse events of HSCT for patients with XIAP deficiency, a national survey was conducted. A spreadsheet questionnaire was sent to physicians who had provided HSCT treatment for patients with XIAP deficiency in Japan. Up to the end of September 2016, 10 patients with XIAP deficiency had undergone HSCT in Japan, 9 of whom (90%) had survived. All surviving patients had received a fludarabine-based reduced intensity conditioning (RIC) regimen. Although 5 patients developed post-HSCT HLH, 4 of them survived after etoposide administration. In addition, the IBD associated with XIAP deficiency improved remarkably after HSCT in all affected cases. The RIC regimen and HLH control might be important factors for successful HSCT outcomes, with improved IBD, in patients with XIAP deficiency. The online version of this article (doi:10.1007/s10875-016-0348-4) contains supplementary material, which is available to authorized users.
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影响因子：
4.3
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影响因子：
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通讯作者：
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