先天性免疫缺陷 (IEI) 包括多种导致感染、自身免疫、过敏和癌症的免疫状况。一些 IEI 没有发现突变，而其他具有相同突变的 IEI 可能表现出异质性。这些观察结果表明表观遗传机制的参与。表观遗传改变可能是通过细胞外刺激和遗传相关变化的细胞通路下游激活引起的，从而影响表观遗传酶或其相互作用物。因此，我们认为表观遗传改变和遗传缺陷并不相互排斥作为致病病因。在这一观点中，涵盖基本和临床观点，我们重点关注具有与表观遗传酶相互作用的转录因子突变的IEIs。这些因素之间错综复杂的相互作用提供了对 IEI 中遗传和表观遗传机制的见解。版权所有 © 2023 Elsevier Ltd。保留所有权利。

Inborn errors of immunity (IEIs) comprise a variety of immune conditions leading to infections, autoimmunity, allergy, and cancer. Some IEIs have no identified mutation(s), while others with identical mutations can display heterogeneous presentations. These observations suggest the involvement of epigenetic mechanisms. Epigenetic alterations can arise from downstream activation of cellular pathways through both extracellular stimulation and genetic-associated changes, impacting epigenetic enzymes or their interactors. Therefore, we posit that epigenetic alterations and genetic defects do not exclude each other as a disease-causing etiology. In this opinion, encompassing both basic and clinical viewpoints, we focus on selected IEIs with mutations in transcription factors that interact with epigenetic enzymes. The intricate interplay between these factors offers insights into genetic and epigenetic mechanisms in IEIs.Copyright © 2023 Elsevier Ltd. All rights reserved.