Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism
Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism
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DOI：
10.1007/s00431-009-1126-6
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发表时间：
2010-07-01
影响因子：
3.6
通讯作者：
Hara, Toshiro
中科院分区：
文献类型：
--
作者：
Inoue, Hirosuke;Takada, Hidetoshi;Hara, Toshiro
由于胸腺缺陷，先天性缺损、心脏畸形、后鼻孔闭锁、生长发育迟缓、生殖器和耳部异常（CHARGE）综合征患者出现DiGeorge序列显示严重免疫缺陷是罕见的。虽然在胸腺移植未获得伦理批准的国家，实现这些患者免疫恢复的唯一治疗方法是造血细胞移植，但大多数患者尚未获得长期生存。另一方面，甲状旁腺功能减退是否是CHARGE综合征的表现之一仍不清楚。我们观察到一例CHARGE综合征患者，其染色体结构域解旋酶DNA结合蛋白7突变显示DiGeorge序列，包括T细胞缺陷伴胸腺发育不全、严重甲状旁腺功能减退和圆锥动脉干心脏异常。他在4个月大时接受了非亲缘脐带血移植。T细胞数量的恢复和对有丝分裂原的增殖反应是通过外周扩增脐带血中的成熟T细胞而实现的，而无需胸腺输出。虽然他仍然患有严重的甲状旁腺功能减退症，但他还活着，没有严重感染10个月。
It is rare that coloboma, heart anomalies, choanal atresia, retarded growth and development, and genital and ear anomalies (CHARGE) syndrome patients have DiGeorge sequence showing severe immunodeficiency due to the defect of the thymus. Although the only treatment to achieve immunological recovery for these patients in countries where thymic transplantation is not ethically approved would be hematopoietic cell transplantation, long-term survival has not been obtained in most patients. On the other hand, it is still not clarified whether hypoparathyroidism is one of the manifestations of CHARGE syndrome. We observed a CHARGE syndrome patient with chromodomain helicase DNA-binding protein 7 mutation showing DiGeorge sequence including the defect of T cells accompanied with the aplasia of the thymus, severe hypoparathyroidism, and conotruncal cardiac anomaly. He received unrelated cord blood transplantation without conditioning at 4 months of age. Recovery of T cell number and of proliferative response against mitogens was achieved by peripheral expansion of mature T cells in cord blood without thymic output. Although he is still suffering from severe hypoparathyroidism, he is alive without serious infections for 10 months.