Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Pediatr Allergy Immunol. 2020 Feb;31 Suppl 24:8-10. doi: 10.1111/pai.13163.
The spectrum of clinical features associated with primary immune deficiency disorders (PIDs) has broadened due to the recent identification of many novel causative genes. Patients present with increased susceptibility to infections in addition to significant immune dysregulation, often leading to multiple autoimmunity, lymphoproliferation, and malignancy. Immunosuppressive treatment is often required but has to be weighed against augmented infectious risk. Recently, the improved molecular understanding of the mechanisms underlying many loss-of-function (LOF) and gain-of-function (GOF) genetic defects leading to PIDs has set the ground for the development of mechanism-based therapeutic strategies that target a specific cell function. This article describes the clinical and laboratory features of selected recently described PIDs associated with immune dysregulation and novel precision medicine strategies aimed to control the disease burden in affected patients.
由于最近发现了许多新的致病基因，与原发性免疫缺陷病（PID）相关的临床特征谱已经扩大。患者除了出现明显的免疫失调外，还容易发生感染，常导致多种自身免疫、淋巴增殖和恶性肿瘤。通常需要进行免疫抑制治疗，但必须权衡增加的感染风险。最近，对导致 PID 的许多功能丧失（LOF）和功能获得（GOF）遗传缺陷的机制的分子理解的提高为开发针对特定细胞功能的基于机制的治疗策略奠定了基础。本文描述了与免疫失调相关的一些最近描述的 PID 的临床和实验室特征，以及旨在控制受影响患者疾病负担的新型精准医学策略。
