诊断先天性免疫错误的多学科方法:基于学科表现的全面回顾。

IF 3.9 3区 医学 Q2 IMMUNOLOGY Expert Review of Clinical Immunology Pub Date : 2024-07-02 DOI:10.1080/1744666X.2024.2372335
Niloufar Yazdanpanah, Nima Rezaei
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引用次数: 0

摘要

导言先天性免疫缺陷被称为原发性免疫缺陷(PID),最近又被称为先天性免疫错误(IEI)。目前有超过 485 种疾病被归类为 IEI,其临床和实验室表现范围广泛:尽管对 IEI 的认识在不断发展,但许多医生在面对病人的主诉时并没有想到 IEI,从而导致延误诊断、误诊、严重的感染性和非感染性并发症、永久性内脏器官损伤甚至死亡。由于 IEI 的表现形式多种多样,相关疾病的范围也很广,患者需要向不同医学学科的专家求助,并接受治疗(主要是对症治疗),而由于 IEI 未被纳入医生的鉴别诊断中,因此主要疾病仍未被诊断出来:专家意见:多学科方法可能是一种适当的解决方案。本文将讨论 IEI 主要类型的表现和多学科方法在诊断中的重要性。
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The multidisciplinary approach to diagnosing inborn errors of immunity: a comprehensive review of discipline-based manifestations.

Introduction: 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.

Areas covered: 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.

Expert opinion: 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.

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来源期刊
CiteScore
7.60
自引率
2.30%
发文量
221
审稿时长
6-12 weeks
期刊介绍: Expert Review of Clinical Immunology (ISSN 1744-666X) provides expert analysis and commentary regarding the performance of new therapeutic and diagnostic modalities in clinical immunology. Members of the International Editorial Advisory Panel of Expert Review of Clinical Immunology are the forefront of their area of expertise. This panel works with our dedicated editorial team to identify the most important and topical review themes and the corresponding expert(s) most appropriate to provide commentary and analysis. All articles are subject to rigorous peer-review, and the finished reviews provide an essential contribution to decision-making in clinical immunology. Articles focus on the following key areas: • Therapeutic overviews of specific immunologic disorders highlighting optimal therapy and prospects for new medicines • Performance and benefits of newly approved therapeutic agents • New diagnostic approaches • Screening and patient stratification • Pharmacoeconomic studies • New therapeutic indications for existing therapies • Adverse effects, occurrence and reduction • Prospects for medicines in late-stage trials approaching regulatory approval • Novel treatment strategies • Epidemiological studies • Commentary and comparison of treatment guidelines Topics include infection and immunity, inflammation, host defense mechanisms, congenital and acquired immunodeficiencies, anaphylaxis and allergy, systemic immune diseases, organ-specific inflammatory diseases, transplantation immunology, endocrinology and diabetes, cancer immunology, neuroimmunology and hematological diseases.
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