Thangaraj Abarna, Tyagi Reva, Suri Deepti, Gupta Sudhir
Pediatric Allergy Immunology Unit, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India.
Division of Basic and Clinical Immunology, Department of Medicine, University of California, Irvine, CA 92697, USA.
Pathogens. 2024 Mar 17;13(3):259. doi: 10.3390/pathogens13030259.
Primary immune regulatory disorders (PIRDs) constitute a spectrum of inborn errors of immunity (IEIs) that are primarily characterized by autoimmunity, lymphoproliferation, atopy, and malignancy. In PIRDs, infections are infrequent compared to other IEIs. While susceptibility to infection primarily stems from antibody deficiency, it is sometimes associated with additional innate immune and T or NK cell defects. The use of immunotherapy and chemotherapy further complicates the immune landscape, increasing the risk of diverse infections. Recurrent sinopulmonary infections, particularly bacterial infections such as those associated with staphylococcal and streptococcal organisms, are the most reported infectious manifestations. Predisposition to viral infections, especially Epstein-Barr virus (EBV)-inducing lymphoproliferation and malignancy, is also seen. Notably, mycobacterial and invasive fungal infections are rarely documented in these disorders. Knowledge about the spectrum of infections in these disorders would prevent diagnostic delays and prevent organ damage. This review delves into the infection profile specific to autoimmune lymphoproliferative syndrome (ALPS), Tregopathies, and syndromes with autoimmunity within the broader context of PIRD. Despite the critical importance of understanding the infectious aspects of these disorders, there remains a scarcity of comprehensive reports on this subject.
原发性免疫调节障碍（PIRD）构成了一系列遗传性免疫缺陷病（IEI），其主要特征为自身免疫、淋巴细胞增殖、特应性和恶性肿瘤。与其他IEI相比，PIRD患者发生感染的情况较少。虽然感染易感性主要源于抗体缺陷，但有时也与其他先天性免疫以及T细胞或自然杀伤（NK）细胞缺陷有关。免疫疗法和化疗的使用使免疫状况更加复杂，增加了发生各种感染的风险。反复发生的鼻窦肺部感染，尤其是与葡萄球菌和链球菌等细菌相关的感染，是最常见的感染表现。也可见对病毒感染的易感性，特别是爱泼斯坦-巴尔病毒（EBV）诱导的淋巴细胞增殖和恶性肿瘤。值得注意 的是，在这些疾病中很少记录到分枝杆菌和侵袭性真菌感染。了解这些疾病中的感染谱将有助于避免诊断延误并防止器官损伤。本综述深入探讨了在PIRD的更广泛背景下，自身免疫性淋巴细胞增殖综合征（ALPS）、调节性T细胞病（Tregopathies）以及伴有自身免疫的综合征所特有的感染情况。尽管了解这些疾病的感染方面至关重要，但关于这一主题的全面报告仍然匮乏。
