免疫缺陷中的脑干发作被确定为腺胺酶2缺乏症:病例报告
Christoph Oster1, Benjamin Stolte1, Livia Asan1
1Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Journal of clinical immunology
|June 12, 2023
概括
氨酸脱氨酶2 (DADA2) 缺乏导致在一个年轻的成年人中出现重复性中风和中枢神经系统粒状瘤. 早期诊断和具体治疗可以预防进一步的中风和疾病的进展.
科学领域:
- 神经学 神经学
- 免疫学 免疫学 免疫学
- 遗传学 遗传学 是一个
背景情况:
- 年轻成年人中重复性中风需要对罕见的潜在原因进行调查.
- 免疫缺陷综合征可以表现为神经系统并发症,包括血管炎和粒状炎症.
- 区分类似的疾病,如常见变性免疫缺陷 (CVID) 和DADA2,对于有效的治疗至关重要.
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