Thymus transplantation in complete DiGeorge anomaly.
Thymus transplantation in complete DiGeorge anomaly.
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DOI：
10.1007/s12026-008-8082-5
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发表时间：
2009
影响因子：
4.4
通讯作者：
McCarthy EA
中科院分区：
文献类型：
--
作者：
Markert ML;Devlin BH;Chinn IK;McCarthy EA
完全性DiGeorge畸形的特征是肌无力、先天性心脏病和甲状旁腺功能减退症。除非免疫重建成功，否则这种先天性疾病在2岁前是致命的。有多个与完全性DiGeorge畸形相关的潜在综合征，包括约50%的22q11偏侧畸形，约25%的电荷关联，约15%的糖尿病胚胎病变。大约三分之一的患者出现与寡克隆性“宿主”T细胞相关的皮疹和淋巴结病。这种情况类似于Omenn综合征。为了控制寡克隆T细胞，免疫抑制是必要的。报道了一系列50例胸腺移植的结果，其中36例存活。幸存者发展出幼稚的T细胞和多样化的T细胞谱系。
Complete DiGeorge anomaly is characterized by athymia, congenital heart disease and hypoparathyroidism. This congenital disease is fatal by age 2 years unless immune reconstitution is successful. There are multiple underlying syndromes associated with complete DiGeorge anomaly including 22q11 hemizygosity in approximately 50%, CHARGE association in approximately 25%, and diabetic embryopathy in approximately 15%. Approximately one third of patients present with rash and lymphadenopathy associated with oligoclonal “host” T cells. This condition resembles Omenn syndrome. Immunosuppression is necessary to control the oligoclonal T cells. The results of thymus transplantation are reported for a series of 50 patients, 36 of whom survive. The survivors develop naïve T cells and a diverse T cell repertoire.