Laboratory-based immunology evaluation is essential to the diagnostic work-up of patients with complex immune disorders, and is as essential, if not more so, depending on the context, than genetic testing, as it enables identification of aberrant pathways amenable to therapeutic intervention, and clarifies variants of uncertain significance. There have been considerable advances in techniques and instrumentation in the clinical laboratory, in the past two decades, though there are still "miles to go". One of the goals of the clinical laboratory is to ensure advanced diagnostic testing is widely accessible to physicians and thus patients, through reference laboratories, particularly in the context of academic medical centers. This ensures a greater likelihood of translating research discoveries into the diagnostic laboratory, based on patient care needs, rather than a sole emphasis on commercial utility. However, these advances are under threat from burdensome regulatory oversight that can compromise, at best, and curtail, at worst, the ability to rapidly diagnose rare immune disorders and ensure delivery of precision medicine. This review discusses the clinical utility of diagnostic immunology tools, beyond cellular immunophenotyping of lymphocyte subsets, which can be used in conjunction with clinical and other laboratory data for diagnosis as well as monitoring of therapeutic response in patients with genetic immunological diseases.

中文翻译：

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扩展复杂遗传免疫疾病的诊断工具箱。


基于实验室的免疫学评估对于复杂免疫疾病患者的诊断检查至关重要，并且根据具体情况，与基因检测一样重要，甚至更重要，因为它能够识别适合治疗干预的异常途径，并阐明意义不确定的变异。在过去的二十年里，临床实验室的技术和仪器取得了长足的进步，尽管还有“很长的路要走”。临床实验室的目标之一是确保医生和患者可以通过参考实验室广泛获得先进的诊断测试，尤其是在学术医疗中心的背景下。这确保了根据患者护理需求，更有可能将研究发现转化为诊断实验室，而不是仅仅强调商业效用。然而，这些进步受到繁重监管的威胁，这些监管充其量可能会损害快速诊断罕见免疫疾病和确保精准医疗的能力，最坏的情况是会削弱这些监管的能力。本综述讨论了诊断免疫学工具的临床效用，超越了淋巴细胞亚群的细胞免疫表型分析，这些工具可以与临床和其他实验室数据结合使用，用于遗传免疫疾病患者的诊断和治疗反应监测。