Section of Allergy and Immunology, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado.
Translational and Diagnostic Immunology Laboratory, Children's Hospital Colorado, Aurora, Colorado.
Int J Lab Hematol. 2019 May;41 Suppl 1:63-72. doi: 10.1111/ijlh.13010.
Primary immunodeficiencies (PID) or inborn errors of immunity affect phenotype and/or function of one or more components of the immune system. The exponential growth of genetic analysis has enabled identification of known and novel mutations. However, genetic analysis continues to be expensive and is not easily accessible. Flow cytometry, on the other hand, has been well established for many years in clinical laboratories and its use for the analysis of immunodeficiencies is expanding. Surface, intracellular, and intranuclear proteins can easily be evaluated by flow cytometry, enabling both phenotypic and functional identification of specific cell populations and therefore facilitating the identification of a variety of PIDs. While genetic analysis provides a definitive diagnosis for PIDs, flow cytometry is necessary to confirm or establish the immune phenotype of a gene mutation. Furthermore, flow cytometry provides a rapid means to identify an immunological defect at a relatively low cost.
原发性免疫缺陷病（PID）或先天性免疫缺陷影响免疫系统的一个或多个组成部分的表型和/或功能。基因分析的指数增长使得已知和新的突变得以识别。然而，基因分析仍然昂贵且不易获得。另一方面，流式细胞术多年来在临床实验室中得到了很好的建立，其在免疫缺陷分析中的应用正在扩大。通过流式细胞术可以轻松评估表面、细胞内和核内蛋白，从而能够对特定细胞群进行表型和功能鉴定，从而有助于鉴定各种 PID。虽然基因分析为 PID 提供了明确的诊断，但流式细胞术是确认或建立基因突变的免疫表型所必需的。此外，流式细胞术提供了一种快速识别免疫缺陷的方法，成本相对较低。
