Kim Vy H D, Upton Julia E M, Derfalvi Beata, Hildebrand Kyla J, McCusker Christine
Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children, Temerty School of Medicine, University of Toronto, Toronto, ON, Canada.
Division of Clinical Immunology and Allergy, Department of Medicine, Temerty School of Medicine, University of Toronto, Toronto, ON, Canada.
Allergy Asthma Clin Immunol. 2025 Jan 8;20(Suppl 3):76. doi: 10.1186/s13223-024-00938-z.
Primary immunodeficiencies (PID), now often referred to as inborn errors of immunity (IEI), are a large heterogeneous group of disorders that result from deficiencies in immune system development and/or function. IEIs can be broadly classified as disorders of adaptive immunity (e.g., combined or humoral immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders). Although the clinical manifestations of IEIs are highly variable, traditionally many disorders involve an increased susceptibility to infection. Research in recent years has underscored how IEI can present with features other than infection such as: severe atopy, autoimmunity, autoinflammation, lymphoproliferation, and/or malignancy resulting from immune dysregulation. Early consultation with a clinical immunologist is essential, as timely diagnosis and treatment are imperative for preventing significant disease-associated morbidity and mortality. The treatment of IEIs is complex and generally requires both supportive and definitive strategies, including but not limited to, immunoglobulin replacement therapy, antibiotic prophylaxis, immune response modifiers, and hematopoietic stem cell transplantation. This article provides an overview of the major categories of IEIs and strategies for the appropriate diagnosis and management of these disorders.
原发性免疫缺陷病（PID），现在常被称为遗传性免疫缺陷（IEI），是一大类异质性疾病，由免疫系统发育和/或功能缺陷引起。遗传性免疫缺陷病可大致分为适应性免疫疾病（如联合免疫缺陷或体液免疫缺陷）或先天性免疫疾病（如吞噬细胞和补体疾病）。尽管遗传性免疫缺陷病的临床表现高度可变，但传统上许多疾病都表现出易感染性增加。近年来的研究强调了遗传性免疫缺陷病如何表现出感染以外的特征，如：严重特应性、自身免疫、自身炎症、淋巴细胞增殖和/或免疫失调导致的恶性肿瘤。尽早咨询临床免疫学家至关重要，因为及时诊断和治疗对于预防严重的疾病相关发病率和死亡率必不可少。遗传性免疫缺陷病的治疗很复杂，通常需要支持性和确定性策略，包括但不限于免疫球蛋白替代疗法、抗生素预防、免疫反应调节剂和造血干细胞移植。本文概述了遗传性免疫缺陷病的主要类别以及这些疾病的适当诊断和管理策略。
