Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Expert Rev Clin Immunol. 2024 Oct;20(10):1237-1259. doi: 10.1080/1744666X.2024.2372335. Epub 2024 Jul 2.
Congenital immunodeficiency is named primary immunodeficiency (PID), and more recently inborn errors of immunity (IEI). There are more than 485 conditions classified as IEI, with a wide spectrum of clinical and laboratory manifestations.
Regardless of the developing knowledge of IEI, many physicians do not think of IEI when approaching the patient's complaint, which leads to delayed diagnosis, misdiagnosis, serious infectious and noninfectious complications, permanent end-organ damage, and even death. Due to the various manifestations of IEI and the wide spectrum of associated conditions, patients refer to specialists in different disciplines of medicine and undergo - mainly symptomatic - treatments, and because IEI are not included in physicians' differential diagnosis, the main disease remains undiagnosed.
A multidisciplinary approach may be a proper solution. Manifestations and the importance of a multidisciplinary approach in the diagnosis of main groups of IEI are discussed in this article.
先天性免疫缺陷被命名为原发性免疫缺陷（PID），最近也被称为先天性免疫缺陷（IEI）。有超过 485 种疾病被归类为 IEI，具有广泛的临床和实验室表现。
无论 IEI 的相关知识如何发展，许多医生在处理患者的抱怨时并不考虑 IEI，这导致了诊断延迟、误诊、严重的感染和非感染性并发症、永久性终末器官损伤，甚至死亡。由于 IEI 的各种表现和广泛的相关疾病，患者会咨询不同医学专业的专家，并接受主要是对症治疗，而且由于 IEI 不在医生的鉴别诊断范围内，主要疾病仍然未被诊断。
多学科方法可能是一个合适的解决方案。本文讨论了 IEI 的主要组别在临床表现和多学科方法在诊断中的重要性。
