Department of Pediatrics, Section of Allergy and Immunology, University of Colorado School of Medicine, Aurora, Colo.
Division of Allergy and Immunology, Children's Hospital of Philadelphia, Perlman School of Medicine at University of Pennsylvania, Philadelphia, Pa.
J Allergy Clin Immunol Pract. 2021 Sep;9(9):3293-3307.e6. doi: 10.1016/j.jaip.2021.05.004. Epub 2021 May 24.
Knowledge related to the biology of inborn errors of immunity and associated laboratory testing methods continues to expand at a tremendous rate. Despite this, many patients with inborn errors of immunity suffer for prolonged periods of time before identification of their underlying condition, thereby delaying appropriate care. Understanding that test selection and optimal evaluation for patients with recurrent infections or unusual patterns of inflammation can be unclear, we present a document that distills relevant clinical features of immunologic disease due to inborn errors of immunity and related appropriate and available test options. This document is intended to serve the practicing clinical immunologist and, in turn, patients by describing best available test options for initial and expanded immunologic evaluations across the disease spectrum. Our goal is to demystify the process of evaluating patients with suspected immune dysfunction and to enable more rapid and accurate diagnosis of such individuals.
有关先天性免疫缺陷和相关实验室检测方法的生物学知识正在以惊人的速度不断扩展。尽管如此，许多患有先天性免疫缺陷的患者在确定其潜在疾病之前，仍会长期遭受病痛折磨，从而延误了适当的治疗。鉴于复发性感染或不寻常炎症模式的患者的检测选择和最佳评估可能并不明确，我们提供了一份文件，其中总结了由于先天性免疫缺陷和相关的适当和可用的检测选择而导致的免疫性疾病的相关临床特征。本文件旨在为临床免疫学家提供服务，并通过描述在疾病谱范围内进行初始和扩展免疫评估的最佳可用检测选择，进而为患者提供服务。我们的目标是揭开评估疑似免疫功能障碍患者的过程的神秘面纱，并使这些患者的诊断更加快速和准确。
