Yazdani Reza, Aghamohammadi Asghar, Rezaei Nima
Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
Endocr Metab Immune Disord Drug Targets. 2021;21(4):647-663. doi: 10.2174/1871530320666200721013312.
Predominantly antibody deficiencies (PADs) are a heterogeneous group of primary immunodeficiency disorders (PIDs), consisting of recurrent infections, autoimmunity, inflammation, and other immune complications. In the recent years, several immunological and genetic defects have been recognized in PADs. Currently, 45 distinct PAD disorders with 40 different genetic defects have been identified based on the 2019 IUIS classification. Genetic analysis is helpful for diagnosing PIDs; however, genetic studies are expensive, time-consuming, and unavailable everywhere. Flow cytometry is a highly sensitive tool for evaluating the immune system and diagnosing PADs. In addition to cell populations and subpopulations assay, flow cytometry can measure cell surface, intracellular and intranuclear proteins, biological changes associated with specific immune defects, and certain functional immune abnormalities. These capabilities help in rapid diagnostic and prognostic assessment as well as in evaluating the pathogenesis of PADs. For the first time, this review particularly provides an overview of the application of flow cytometry for diagnosis, immunophenotyping, and determining the pathogenesis of PADs.
主要抗体缺陷（PADs）是一组异质性的原发性免疫缺陷疾病（PIDs），包括反复感染、自身免疫、炎症和其他免疫并发症。近年来，在PADs中已认识到几种免疫和遗传缺陷。目前，根据2019年国际免疫学会联盟（IUIS）分类，已鉴定出45种不同的PAD疾病和40种不同的遗传缺陷。基因分析有助于诊断PIDs；然而，基因研究成本高、耗时且并非各地都可进行。流式细胞术是评估免疫系统和诊断PADs的高灵敏度工具。除了细胞群体和亚群分析外，流式细胞术还可测量细胞表面、细胞内和细胞核内蛋白质、与特定免疫缺陷相关的生物学变化以及某些功能性免疫异常。这些能力有助于快速进行诊断和预后评估以及评估PADs的发病机制。本综述首次特别概述了流式细胞术在PADs诊断、免疫表型分析和发病机制确定中的应用。
