Division of Basic and Clinical Immunology, Department of Medicine, University of California, Irvine, Irvine, CA, USA.
Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics.
Curr Opin Pediatr. 2021 Dec 1;33(6):657-675. doi: 10.1097/MOP.0000000000001075.
Primary immunodeficiency diseases (PIDs), also called inborn errors of immunity (IEI), are genetic disorders classically characterized by an increased susceptibility to infection and/or disruption in the regulation of an immunologic pathway. This review summarizes and highlights the new IEI disorders in the IUIS 2019 report and 2020 interim report and discusses the directions for the future management of PIDs.
Since 2017, the International Union of Immunologic Societies (IUIS) IEI committee has updated the IUIS classification of IEIs with 88 new gene defects and 75 new immune disorders. The increased utilization of genetic testing and advances in the strategic evaluation of genetic variants have identified, not only novel IEI disorders, but additional genetic causes for known IEI disorders. Investigation of potential immune susceptibilities during the ongoing COVID-19 pandemic suggests that defects in Type I interferon signalling may underlie more severe disease.
The rapid discovery of new IEIs reflects the growing trend of applying genetic testing modalities as part of medical diagnosis and management.In turn, elucidating the pathophysiology of these novel IEIs have enhanced our understanding of how genetic mutations can modulate the immune system and their consequential effect on human health and disease.
原发性免疫缺陷病（PID），又称先天性免疫缺陷，其特征为易感染和/或免疫通路调节紊乱，这些疾病是经典的遗传性疾病。本综述总结并强调了国际免疫学会联合会（IUIS）2019 年报告和 2020 年临时报告中的新的 IEI 疾病，并讨论了 PID 未来管理的方向。
自 2017 年以来，国际免疫学会联合会（IUIS）IEI 委员会更新了 IUIS 对 IEIs 的分类，新增了 88 个新基因缺陷和 75 个新的免疫性疾病。遗传检测的广泛应用和基因变异的策略评估进展，不仅鉴定了新的 IEI 疾病，还发现了已知 IEI 疾病的更多遗传病因。在持续的 COVID-19 大流行期间对潜在免疫易感性的研究表明，I 型干扰素信号转导缺陷可能是导致更严重疾病的原因。
新的 IEI 的快速发现反映了将遗传检测模式作为医疗诊断和管理的一部分的应用日益增多。反过来，阐明这些新的 IEI 的病理生理学，增强了我们对遗传突变如何调节免疫系统及其对人类健康和疾病的影响的理解。
