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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome.
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Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome.

机译：造血干细胞移植可纠正与免疫缺陷-着丝粒不稳定性-面部畸形综合征相关的免疫学异常。

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摘要

Immunodeficiency-centromeric instability-facial dysmorphism syndrome, characterized by variable immunodeficiency, centromeric instability, and facial anomalies caused by epigenetic dysregulation resulting in hypomethylation, is caused in many patients by mutations in DNMT3B, a DNA methyltransferase gene; associated infections are a major cause of serious sequelae and death. Hematopoietic stem cell transplantation may improve the clinical course in immunodeficiency-centromeric instability-facial dysmorphism syndrome. We report 3 unrelated patients with persistent infections and intestinal complications who successfully underwent hematopoietic stem cell transplantation after nonmyeloablative or myeloablative conditioning regimens using HLA-matched donors. In all cases, donor chimerism led to resolution of intestinal complications and infections, growth improvement, and correction of the immunodeficiency.
机译：免疫缺陷-着丝粒不稳定性-面部异形症候群，其特征是免疫缺陷，着丝粒不稳定性以及由表观遗传异常引起的甲基化不足引起的面部异常，这是许多患者由DNA甲基转移酶基因DNMT3B的突变引起的。相关的感染是严重后遗症和死亡的主要原因。造血干细胞移植可改善免疫缺陷-着丝粒不稳定性-面部异型综合征的临床过程。我们报告了3例持续感染和肠道并发症的无关患者，这些患者在使用HLA匹配的供体进行非清髓或清髓治疗方案后成功进行了造血干细胞移植。在所有情况下，供体嵌合都导致肠道并发症和感染的解决，生长的改善以及免疫缺陷的纠正。

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