Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Eur J Pediatr. 2010 Jul;169(7):839-44. doi: 10.1007/s00431-009-1126-6. Epub 2010 Jan 6.
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.
患有眼脑肾综合征（COLoboma，heart anomalies，choanal atresia，retarded growth and development，and genital and ear anomalies，CHARGE）的患者由于胸腺缺陷，很少会出现因 DiGeorge 序列导致严重免疫缺陷的情况。虽然对于那些在没有获得伦理批准的情况下无法进行胸腺移植的国家，实现这些患者免疫恢复的唯一治疗方法是造血细胞移植，但大多数患者并未获得长期生存。另一方面，甲状旁腺功能减退症是否为 CHARGE 综合征的表现之一仍不清楚。我们观察到一名患有染色质解旋酶 DNA 结合蛋白 7 突变的 CHARGE 综合征患者，表现为包括 T 细胞缺陷在内的 DiGeorge 序列，伴有胸腺发育不全、严重甲状旁腺功能减退和圆锥动脉干心脏畸形。他在 4 个月大时接受了非亲缘脐带血移植，未进行预处理。通过外周血中脐带血成熟 T 细胞的扩增，实现了 T 细胞数量的恢复和对有丝分裂原的增殖反应，尽管他仍患有严重的甲状旁腺功能减退症，但在 10 个月内没有严重感染，仍存活。
