Abstract：
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.
摘要：
先天性免疫错误（IEI）是一种多样化且不断增长的类别，包括430多种慢性疾病，它们对感染具有敏感性。是否导致有缺陷的颗粒依赖性细胞毒性的遗传损伤的结果，过度淋巴增生,或者压倒性的感染代表了独特的抗原挑战，IEI可以显示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。对于每个IEI，回顾了免疫学缺陷及其如何促进或阻止CSS现象。假定对CSS生理学至关重要的途径中与IEI相关的分子缺陷（即，toll样受体,调节性T细胞,IL-12/IFNγ轴，IL-6）和，只要有可能,重点介绍了用分子导向疗法治疗IEI患者CSS的综述策略.
