免疫出生缺陷的特殊识别线索：神经系统异常
Special Clues for Inborn Errors of Immunity: Neurological Abnormalities
DOI: 10.12677/acm.2026.1631093, PDF,    科研立项经费支持
作者: 郭羽姗, 杨 曦, 赵晓东, 安云飞*：重庆医科大学附属儿童医院风湿免疫科，儿童少年健康与疾病国家临床医学研究中心，儿童发育疾病研究教育部重点实验室，儿童感染与免疫罕见病重庆市重点实验室，重庆
关键词: 免疫出生缺陷；神经系统表现 ；Inborn Errors of Immunity； Neurological Manifestations
摘要: 免疫出生缺陷(IEI)是一种异质性的免疫系统遗传性疾病，临床上表现为以感染为标志的多系统多器官受累特征，其中神经系统受累表现可作为一些免疫出生缺陷的原发表现或核心表现。如果不能及时将这些神经系统症状体征与IEI联系起来，认识到这些神经系统表现可能是IEI表现的一部分，将导致误诊或治疗不充分或延迟，进而产生不可逆后果。因此，了解相关免疫出生缺陷的神经系统表现将有助于医生早期诊断和及时治疗，从而预防或减少不可逆的神经系统后遗症。
Abstract: Inborn errors of immunity (IEI) are a heterogeneous group of genetic disorders of the immune system, clinically characterized by multisystem and multi-organ involvement with infections as a hallmark feature. Among these, neurological manifestations may serve as the primary or core presentation in some IEIs. Failure to promptly associate such neurological signs and symptoms with an underlying IEI—or to recognize them as part of the IEI phenotype—can lead to misdiagnosis, inadequate treatment, or therapeutic delay, resulting in irreversible outcomes. Therefore, understanding the neurological presentations associated with specific IEIs will aid clinicians in early diagnosis and timely intervention, thereby preventing or reducing irreversible neurological sequelae.
文章引用：郭羽姗, 杨曦, 赵晓东, 安云飞. 免疫出生缺陷的特殊识别线索：神经系统异常[J]. 临床医学进展, 2026, 16(3): 2904-2916. https://doi.org/10.12677/acm.2026.1631093

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