Division of Allergic Diseases, Department of Medicine, Mayo Clinic, Rochester, MN, USA.
Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 1st St SW, Rochester, MN, 55905, USA.
Curr Allergy Asthma Rep. 2018 Feb 22;18(3):19. doi: 10.1007/s11882-018-0770-1.
The purpose of this review is to provide an overview of diagnostic testing in primary immunodeficiency and immune dysregulatory disorders (PIDDs), particularly focusing on flow cytometry and genetic techniques, utilizing specific examples of PIDDs.
Flow cytometry remains a vital tool in the diagnosis and monitoring of immunological diseases. Its utility ranges from cellular analysis and specific protein quantitation to functional assays and signaling pathway analysis. Mass cytometry combines flow cytometry and mass spectrometry to dramatically increase the throughput of multivariate single-cell analysis. Next-generation sequencing in combination with other molecular techniques and processing algorithms has become more widely available and identified the diverse and heterogeneous genetic underpinnings of these disorders. As the spectrum of disease is further clarified by increasing immunological, genetic, and epigenetic knowledge, the careful application of these diagnostic tools and bioinformatics will assist not only in our understanding of these complex disorders, but also enable the implementation of personalized therapeutic approaches for disease management.
本文旨在概述原发性免疫缺陷和免疫调节紊乱疾病（PIDDs）的诊断检测，重点介绍流式细胞术和遗传技术，并辅以 PIDDS 的具体实例。
流式细胞术仍然是诊断和监测免疫性疾病的重要工具。其应用范围包括细胞分析和特定蛋白定量、功能测定以及信号通路分析。液质流式细胞术将流式细胞术和质谱分析相结合，极大地提高了多变量单细胞分析的通量。新一代测序与其他分子技术和处理算法结合后，应用更加广泛，揭示了这些疾病的多样化和异质性遗传基础。随着免疫学、遗传学和表观遗传学知识的不断增加，疾病谱得到进一步阐明，这些诊断工具和生物信息学的谨慎应用不仅有助于我们对这些复杂疾病的理解，还能为疾病管理实施个性化治疗方法。
