Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, Ohio.
Division of Immunology, Allergy, and Rheumatology, Department of Pediatrics and the Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, Calif.
J Allergy Clin Immunol Pract. 2021 Feb;9(2):613-625. doi: 10.1016/j.jaip.2020.11.044.
The field of immunology has a rich and diverse history, and the study of inborn errors of immunity (IEIs) represents both the "cake" and the "icing on top of the cake," as it has enabled significant advances in our understanding of the human immune system. This explosion of knowledge has been facilitated by a unique partnership, a triumvirate formed by the physician who gathers detailed immunological and clinical phenotypic information from, and shares results with, the patient; the laboratory scientist/immunologist who performs diagnostic testing, as well as advanced functional correlative studies; and the genomics scientist/genetic counselor, who conducts and interprets varied genetic analyses, all of which are essential for dissecting constitutional genetic disorders. Although the basic principles of clinical care have not changed in recent years, the practice of clinical immunology has changed to reflect the prodigious advances in diagnostics, genomics, and therapeutics. An "omic/tics"-centric approach to IEI reflects the tremendous strides made in the field in the new millennium with recognition of new disorders, characterization of the molecular underpinnings, and development and implementation of personalized treatment strategies. This review brings renewed attention to bear on the indispensable "trinity" of phenotypic, genomic, and immunological analyses in the diagnosis, management, and treatment of IEIs.
免疫学领域有着丰富多样的历史，而先天性免疫缺陷（IEI）的研究既代表了“蛋糕”，也代表了“蛋糕上的糖衣”，因为它使我们对人类免疫系统的理解有了重大进展。这种知识的爆炸式增长得益于一个独特的合作关系，即由从患者那里收集详细的免疫学和临床表型信息并与患者分享结果的医生、进行诊断测试以及高级功能相关性研究的实验室科学家/免疫学家、以及进行和解释各种遗传分析的基因组科学家/遗传咨询师组成的三巨头。尽管近年来临床护理的基本原则没有改变，但临床免疫学的实践已经发生了变化，以反映诊断、基因组学和治疗方面的巨大进步。以“组学/分析”为中心的 IEI 方法反映了新千年以来该领域在识别新疾病、阐明分子基础以及制定和实施个性化治疗策略方面所取得的巨大进展。这篇综述重新关注了表型、基因组和免疫学分析在 IEI 的诊断、管理和治疗中的不可或缺的“三位一体”。
