Allogeneic stem cell transplantation in X-linked lymphoproliferative disease: two cases in one family and review of the literature
Allogeneic stem cell transplantation in X-linked lymphoproliferative disease: two cases in one family and review of the literature
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DOI：
10.1038/sj.bmt.1705016
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发表时间：
2005-07-01
影响因子：
4.8
通讯作者：
Egeler, RM
中科院分区：
文献类型：
--
作者：
Lankester, AC;Visser, LFA;Egeler, RM
X连锁淋巴组织增生性疾病（XLP）是一种罕见的免疫缺陷病，由信号淋巴细胞活化分子相关蛋白/SH 2D 1A基因突变引起，其特征是对EB病毒和其他病原体的免疫反应失调。临床表现多样，包括暴发性传染性单核细胞增多症、淋巴瘤、低丙种球蛋白血症和再生障碍性贫血。XLP与高发病率相关，总体结局较差。目前，异基因干细胞移植（alloSCT）是唯一的治愈性治疗。XLP患者可以在疾病的各个阶段被识别，甚至当症状还不明显时。我们在这里介绍了两名处于不同疾病阶段的相关XLP患者，他们都使用匹配的无关供体成功地进行了alloSCT治疗。此外，我们回顾了所有报告的XLP患者的alloSCT病例。基于这些结果，为了改善最终结果，我们得出结论，alloSCT应推荐在有症状和无症状的XLP患者。
X-linked lymphoproliferative disease (XLP) is a rare immunodeficiency caused by mutations in the signaling lymphocyte activating molecule-associated protein/SH2D1A gene and characterized by a dysregulated immune response to Epstein-Barr virus and other pathogens. The clinical presentation is heterogeneous and includes fulminant infectious mononucleosis, lymphoma, hypogammaglobulinemia and aplastic anemia. XLP is associated with a high morbidity and overall outcome is poor. At present, allogeneic stem cell transplantation (alloSCT) is the only curative treatment. XLP patients may be recognized in various stages of disease and even when symptoms are not yet evident. We here present two related XLP patients in different stages of disease that were both treated successfully with alloSCT using a matched unrelated donor. In addition, we have reviewed all reported cases of alloSCTs in XLP patients. Based on these results and in order to improve the final outcome, we conclude that alloSCT should be recommended in both symptomatic and asymptomatic XLP patients.