原发性免疫缺陷性疾病3例临床病理诊断分析

Primary immunodeficiency diseases:a clinicopathological analysis of 3 cases

目的探讨原发性免疫缺陷性疾病(primary immunodeficiency diseases,PID)的临床表现与病理学特征。方法回顾分析3例PID的临床与病理资料,结合临床表现、实验室检查资料和免疫组化染色与组织化学染色明确诊断。结果 3例PID包括慢性肉芽肿病、高IgE综合征和T细胞缺乏合并弓形虫感染,患者均经历反复性、难治性感染,病理诊断及鉴别诊断中详细结合临床资料和实验室检查后才最终确诊。结论 PID是一类发病率低、与遗传相关的免疫缺陷性疾病,容易被临床和病理医师忽视,早期确诊此类疾病有助于患者获得正确治疗。

Purpose To explore the clinical manifestations and pathological characteristics of primary immunodeficiency diseases （PID）. Methods Three cases of PID patients were reviewed with their clinical consultation data and histopathological types. Labora- tory tests were integrated with an affirmative diagnosis of PID including immunohistochemical and histochemical staining. Results All of the 3-PID patients, who were suffered from recurrent and refractory infections with non-specific features, were received an authorized diagnosis and appropriate hospitalized treatments. The diseases were chronic granulomatous disease, hyper-IgE syndrome and T-cell de- ficiency complicated with toxoplasma infection. Pathologists made a difficult decision in excluding other entities through comprehending disease progression and examination data in detail. Conclusion PID is a group of rare disorders correlated with genetic and com- plexed-clinical manifestations, which are easy to be neglected by clinicians and pathologists. Making a confirmed diagnosis of PID might provide evidences for medical intervention of PID patients at their early stage.