O'Gorman Maurice R G
Departments of Pathology and Pediatrics, Children's Hospital of Los Angeles and the Keck School of Medicine, U. of Southern California, 4650 Sunset Blvd., MS #43, Los Angeles, CA, 90027, USA.
Methods Mol Biol. 2018;1678:321-345. doi: 10.1007/978-1-4939-7346-0_14.
Inborn errors of immunity are the cause of the primary immunodeficiency diseases, an extremely diverse group of genetic defects that are inherited in Mendelian fashion and result in the impairment of development and/or function of key components of the immune system. Since the last publication of this chapter in 2011, there have been approximately 100 new primary immunodeficiency diseases officially classified by the "Expert Committee for Primary Immunodeficiency" who met in 2015 and the numbers will continue to rise with the continued evolution and widespread adoption of genomic technologies. The ultimate diagnostic modality involves the identification of a mutation in a gene whose product is known to be involved in immunity. DNA sequencing is however still a rather time-consuming technology. Flow cytometry applications have evolved that are rapid, specific, and relatively inexpensive to screen for abnormalities associated with primary immunodeficiency diseases. The numerous flow cytometry procedures that have been developed to detect abnormalities in peripheral blood cells of primary immunodeficiency patients can barely be covered in an entire book, let alone one chapter. Instead of attempting to cover each disease with a specific assay or test, we will review four procedures each covering one of the three following broad forms of immune abnormalities observed in primary immunodeficiency, i.e., immune subset abnormalities, immune marker abnormalities, and immune function abnormalities.
遗传性免疫缺陷是原发性免疫缺陷疾病的病因，这是一组极为多样的遗传缺陷，以孟德尔方式遗传，导致免疫系统关键组成部分的发育和/或功能受损。自本章2011年上次出版以来，2015年召开会议的“原发性免疫缺陷专家委员会”已正式分类了约100种新的原发性免疫缺陷疾病，随着基因组技术的不断发展和广泛应用，这一数字还将继续上升。最终的诊断方式是识别已知其产物参与免疫的基因中的突变。然而，DNA测序仍然是一项相当耗时的技术。流式细胞术应用已经发展起来，可快速、特异性地筛查与原发性免疫缺陷疾病相关的异常，且成本相对较低。为检测原发性免疫缺陷患者外周血细胞异常而开发的众多流式细胞术程序，一本书都难以涵盖，更不用说一章了。我们不会试图用特定的检测方法来涵盖每种疾病，而是将回顾四种程序，每种程序涵盖原发性免疫缺陷中观察到的以下三种广泛形式的免疫异常之一，即免疫亚群异常、免疫标志物异常和免疫功能异常。
