重症联合免疫缺陷病临床病理分析

Clinicopathological analysis of severe combined immunodeficiency

目的探讨重症联合免疫缺陷病(severe combined immunodeficiency,SCID)的临床病理特征。方法对6例SCID合并全身性巨细胞病毒(cytomegalovirus,CMV)感染患者的临床资料及尸检结果进行分析。结果6例SCID均为男性,平均年龄4个月。主要表现发热、咳嗽、腹泻、抽搐,实验室生化及免疫学检查均异常。淋巴细胞绝对值显著降低,平均(0·5±0·16)×109/L,免疫球蛋白IgG、IgM、IgA均明显降低。尸检发现共同特点是胸腺体积、重量极小,平均1·5g。镜下胸腺皮髓质分界不清,淋巴细胞稀少或缺如,无胸腺小体形成;脾、阑尾、回肠淋巴组织稀少,浆细胞少见;合并全身性CMV感染侵犯几乎所有内脏器官。患儿因重症肺炎、呼吸衰竭致死。结论SCID早期确诊困难,多因严重、反复感染死亡。合并的CMV感染具有脏器累及广泛、常合并其他病原菌混合感染和中枢神经系统的易感性等特点。

Purpose To explore the clinicopathological features of severe combined immunodeficiency （SCID）. Methods Six cases of SCID were reviewed and analyzed both in clinical data and autopsy examination. Results The six cases of SCID were male with mean age of 4 months. The major presentations were fever, cough, diarrhea and convulsion. All the patients had abnormalities of blood biochemical and immune tests. The mean absolute lymphocyte count was （0. 5±0. 16 ） × 10^9/L, and IgG, IgM and IgA were significantly lower than normal. Autopsy examination showed thymuses in the six cases were very small with mean weight of 1.5 g. Microscopically, there were no distinctive margin between the cortex and medulla in the thymuses with few lymphocytes and Hassall＇s corpuscles. There were few lymphocytes and plasma cells in the spleen, appendix and ileum. SICD with disseminated CMV infection affected nearly all organs and all the cases died of severe pneumonia. Conclusions SCID has high mortality because of severe infection. CMV infection in SCID has the features of dissemination, combining with other pathogenic infection and susceptibility of central nervous system.