由于免疫缺陷而产生的抗体衰竭:引人入胜的差异诊断
Federica Cavone1, Susanna Cappelli2, Alice Bonuccelli3
1Pediatrics Unit, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
Journal of clinical medicine
|September 28, 2023
概括
ATAXIA telangiectasia (AT) 是一种罕见的神经退行性疾病,通常与ATAXIA一起出现. 在神经症状出现之前,这种病例突显了AT最初表现为严重的综合免疫缺陷 (CID).
科学领域:
- 遗传学和罕见疾病.
- 免疫学 免疫学 免疫学
- 神经学 神经学
背景情况:
- 缺氧电脉切开症 (AT) 是一种罕见的,进展性神经退行性疾病.
- 它通常会影响小脑,导致心力衰竭,免疫缺陷和脑膜衰竭.
- 衰是标志性的,通常出现在走路开始后.
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