Abstract:

Primary immune deficiency（PID） represents a highly heterogeneous group of disorders from early ages. The clinical manifestations of these diseases were mainly recurrent and severe infections. Because of the difficulty on diagnosis and differential diagnosis and on treatment of recurrent and refractory infections， most PIDs were intractable cases. Recent advance in the understanding of the immune system have led to the development of novel immunologic assays to aid in the diagnosis of these disorders，and more and more PID patients are diagnosed and have received suitable therapy. In this article，the author reviewed the progress and application of immune functional evaluation in PID，including flow cytometry（FCM），investigating T cell receptor excision circles（TREC），T cell receptor beta-chain variable region（TCRBV） repertoire diversity.

Key words: primary immunodeficiency disease, flow cytometry, T cell receptor excision circles, T cell receptor diversity

摘要：

原发性免疫缺陷病（PID）是一组高度异质性疾病，以自幼反复严重感染为主要临床表现，由于其诊断和鉴别诊断困难，顽固反复感染，难于治疗，多数PID为疑难病例。近年来随着对免疫系统了解的深入以及新型免疫学检测技术的进展，越来越多的PID患者被明确诊断和适当治疗。文章就目前PID免疫功能评估进展及应用做简单论述，包括流式细胞术、定量分析T细胞剪切环、检测T细胞受体β链可变区谱型多样性等方面。

关键词: 原发性免疫缺陷病, 流式细胞术, T细胞受体删除环, T细胞受体多样性