Immunology Program, Garvan Institute of Medical Research, Sydney, NSW, Australia; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia.
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
J Allergy Clin Immunol Pract. 2023 Jun;11(6):1579-1591. doi: 10.1016/j.jaip.2023.03.049. Epub 2023 Apr 11.
With the exponential discovery of new inborn errors of immunity (IEI), it is becoming increasingly difficult to differentiate between a number of the more recently defined disorders. This is compounded by the fact that although IEI primarily present with immunodeficiency, the spectrum of disease is broad and often extends to features typical of autoimmunity, autoinflammation, atopic disease, and/or malignancy. Here we use case studies to discuss the laboratory and genetic tests used that ultimately led to the specific diagnoses.
随着新的先天性免疫缺陷（IEI）的不断发现，区分一些最近定义的疾病变得越来越困难。由于 IEI 主要表现为免疫缺陷，但其疾病谱广泛，且常扩展至自身免疫、自身炎症、特应性疾病和/或恶性肿瘤的典型特征，这使情况更加复杂。在这里，我们通过病例研究来讨论最终导致明确诊断的实验室和遗传检测。
