Allogeneic hematopoietic stem cell transplantation for seven children with X‐linked hyper‐IgM syndrome: A single center experience
Allogeneic hematopoietic stem cell transplantation for seven children with X‐linked hyper‐IgM syndrome: A single center experience
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DOI：
10.1002/ajh.20044
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发表时间：
2004-05
影响因子：
12.8
通讯作者：
D. Tomizawa;K. Imai;Sukeyuki Ito;M. Kajiwara;Y. Minegishi;M. Nagasawa;T. Morio;S. Nonoyama;S. Mizutani
中科院分区：
文献类型：
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作者：
D. Tomizawa;K. Imai;Sukeyuki Ito;M. Kajiwara;Y. Minegishi;M. Nagasawa;T. Morio;S. Nonoyama;S. Mizutani
X连锁高IgM综合征（XHIM）或1型高IgM综合征（HIGM 1）是一种罕见的原发性免疫缺陷疾病，易受复发性细菌感染和机会性感染，如卡氏肺孢子虫和隐孢子虫。长期结果相当差，异基因造血干细胞移植（HSCT）是唯一的治愈方法。7例XHIM患者，年龄从3岁到19岁（平均11.3岁），在我们的机构接受了同种异体HSCT。回顾性分析了移植前后数据和移植手术的详细信息。3例患者的供体为HLA相同的同胞，4例患者的供体为HLA相同的无关供体。除1例外，所有患者均接受了由白消安和环磷酰胺组成的常规预处理方案，以及由环孢素和甲氨蝶呤组成的移植物抗宿主病（GVHD）预防。7名患者中有5名存活且CD 40 L表达正常，其中4名患者没有静脉注射免疫球蛋白补充剂。死亡的两名患者长期患有严重和复发性感染和器官损伤。我们的结论是，传统的同种异体造血干细胞移植从HLA匹配的相关或无关的捐助者是治愈性和可行的XHIM患者，如果进行之前发生重大感染和器官损伤。对于高风险患者，包括非清髓性HSCT在内的替代方法可能更可行。Am.血液学杂志76：33-39，2004.© 2004 Wiley利斯公司
X‐linked hyper‐IgM syndrome (XHIM), or hyper‐IgM syndrome type 1 (HIGM1), is a rare primary immunodeficiency disorder susceptible to recurrent bacterial infection and opportunistic infection such as Pneumocystis carinii and Cryptosporidium parvum. The long‐term outcome is quite poor, and allogeneic hematopoietic stem cell transplantation (HSCT) offers the only cure. Seven patients with XHIM, from age 3 to 19 years (mean 11.3 years), underwent allogeneic HSCT in our institution. Details of pre‐ and post‐transplantation data and transplantation procedure were analyzed retrospectively. The donors were HLA‐identical siblings for three patients and HLA‐identical unrelated donors for four patients. All but one received conventional conditioning regimen consisting of busulfan and cyclophosphamide and prophylaxis for graft‐versus‐host disease (GVHD) consisting of cyclosporine and methotrexate. Five out of seven patients are alive and well with normal CD40L expression, and four of these five are free of intravenous immunoglobulin supplementation. The two patients who died had prolonged episodes of severe and recurrent infections and organ damage. We conclude that conventional allogeneic HSCT from HLA matched related or unrelated donors is curative and feasible for XHIM patients, if performed before significant infections and organ damage occur. For the high‐risk patients, an alternative approach including nonmyeloablative HSCT may be more feasible. Am. J. Hematol. 76:33–39, 2004. © 2004 Wiley‐Liss, Inc.