Thong Y H, Robertson E F, Rischbieth H G, Smith G J, Binns G F, Cheney K, Pollard A C
Arch Dis Child. 1978 Jul;53(7):580-4. doi: 10.1136/adc.53.7.580.
A 13-month-old girl presented with right upper lobe pneumonia and hypocalcaemic seizures: investigations showed hypoparathyroidism and impaired cell-mediated immune responses. Other features of the DiGeorge syndrome included hypertelorism, short philtrum of the lip, right-sided aortic arch, and aberrant origin of the left subclavian artery. Successful restoration of the immunodeficiency was achieved by transplantation of fetal thymic epithelium.
一名13个月大的女童出现右上叶肺炎和低钙血症性惊厥:检查显示甲状旁腺功能减退和细胞介导的免疫反应受损。迪乔治综合征的其他特征包括眼距过宽、唇人中短、右侧主动脉弓和左锁骨下动脉异常起源。通过移植胎儿胸腺上皮成功恢复了免疫缺陷。