先天性免疫缺陷 (IEI) 通常被认为是罕见的单基因免疫系统疾病，可导致免疫缺陷、自身炎症、自身免疫、过敏和/或癌症。在这里，我们讨论 IEI 不一定是罕见疾病或专门影响免疫系统的证据。也就是说，越来越多的 IEI 患者出现中枢神经、消化、肾脏或肺系统的严重失调。因此，目前因专业医学的隔离实践而导致的 IEI 诊断挑战可以通过免疫遗传学方法部分缓解。我们从 IEI 的简要历史概述开始，然后讨论促进 IEI 免疫遗传学研究的技术进步、了解 IEI 疾病外显率的进展、影响远端器官系统的 IEI 范围不断扩大以及遗传、生化和医学的未来该领域的发现。© 2023。施普林格自然有限公司。

Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy and/or cancer. Here, we discuss evidence that IEIs need not be rare disorders or exclusively affect the immune system. Namely, an increasing number of patients with IEIs present with severe dysregulations of the central nervous, digestive, renal or pulmonary systems. Current challenges in the diagnosis of IEIs that result from the segregated practice of specialized medicine could thus be mitigated, in part, by immunogenetic approaches. Starting with a brief historical overview of IEIs, we then discuss the technological advances that are facilitating the immunogenetic study of IEIs, progress in understanding disease penetrance in IEIs, the expanding universe of IEIs affecting distal organ systems and the future of genetic, biochemical and medical discoveries in this field.© 2023. Springer Nature Limited.