Department of Pediatrics, Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Adv Exp Med Biol. 2024;1448:185-207. doi: 10.1007/978-3-031-59815-9_14.
Inborn errors of immunity (IEI) are a diverse and growing category of more than 430 chronic disorders that share susceptibilities to infections. Whether the result of a genetic lesion that causes defective granule-dependent cytotoxicity, excessive lymphoproliferation, or an overwhelming infection represents a unique antigenic challenge, IEIs can display a proclivity for cytokine storm syndrome (CSS) development. This chapter provides an overview of CSS pathophysiology as it relates to IEIs. For each IEI, the immunologic defect and how it promotes or discourages CSS phenomena are reviewed. The IEI-associated molecular defects in pathways that are postulated to be critical to CSS physiology (i.e., toll-like receptors, T regulatory cells, the IL-12/IFNγ axis, IL-6) and, whenever possible, review strategies for treating CSS in IEI patients with molecularly directed therapies are highlighted.
先天性免疫缺陷(IEI)是一个多样化且不断发展的类别,包括 430 多种慢性疾病,这些疾病都具有易感染的特点。无论是由于遗传损伤导致颗粒依赖性细胞毒性缺陷、过度淋巴增生,还是由于压倒性感染代表了独特的抗原性挑战,IEI 都可能表现出细胞因子风暴综合征(CSS)发展的倾向。本章概述了与 IEI 相关的 CSS 病理生理学。对于每种 IEI,都回顾了免疫缺陷以及它如何促进或抑制 CSS 现象。对被认为对 CSS 生理学至关重要的途径中的 IEI 相关分子缺陷(即 Toll 样受体、T 调节细胞、IL-12/IFNγ 轴、IL-6)进行了综述,并在可能的情况下,强调了针对 IEI 患者 CSS 进行分子靶向治疗的策略。