免疫缺陷病患者免疫调节异常不同表现形式的诊断挑战
Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation.
作者信息
Pieniawska-Śmiech Karolina, Pasternak Gerard, Lewandowicz-Uszyńska Aleksandra, Jutel Marek
机构信息
Department of Clinical Immunology, Wroclaw Medical University, 50-368 Wroclaw, Poland.
Department of Clinical Immunology and Paediatrics, Provincial Hospital J. Gromkowski, 51-149 Wroclaw, Poland.
出版信息
J Clin Med. 2022 Jul 20;11(14):4220. doi: 10.3390/jcm11144220.
Abstract
Inborn errors of immunity (IEI), formerly known as primary immunodeficiency disorders (PIDs), are inherited disorders caused by damaging germline variants in single genes, which result in increased susceptibility to infections and in allergic, autoimmune, autoinflammatory, nonmalignant lymphoproliferative, and neoplastic conditions. Along with well-known warning signs of PID, attention should be paid to signs of immune dysregulation, which seem to be equally important to susceptibility to infection in defining IEI. The modern diagnostics of IEI offer a variety of approaches but with some problems. The aim of this review is to discuss the diagnostic challenges in IEI patients in the context of an immune dysregulation background.
摘要
遗传性免疫缺陷病（IEI），以前称为原发性免疫缺陷病（PID），是由单个基因的种系变异受损引起的遗传性疾病，这些变异会导致对感染的易感性增加，以及引发过敏、自身免疫、自身炎症、非恶性淋巴细胞增殖和肿瘤性疾病。除了PID的众所周知的警示信号外，还应注意免疫失调的迹象，在定义IEI时，这些迹象对于感染易感性似乎同样重要。IEI的现代诊断提供了多种方法，但也存在一些问题。本综述的目的是在免疫失调背景下讨论IEI患者的诊断挑战。
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