本文报告12例先天性胸腺发育不良,临床以反复、多重、难治性感染为特征,分别死于败血症、肺炎、化脑、坏疽痘、输血后GVHD等。12例中仅2例在生前作出诊断,10例死后经病理证实。提示,儿科临床医师应提高对本病的认识,力求减少误诊。 This article reports 12 cases of congenital thymus dysplasia, clinical repeated, multiple, refractory infections were characterized by sepsis, pneumonia, brain damage, gangrene, GVHD after transfusion and so on. Only 2 of 12 patients were diagnosed before their death, and 10 were pathologically confirmed after their death. Tip, pediatric clinicians should raise awareness of the disease, and strive to reduce misdiagnosis.