在唐氏综合征回归障碍中,免疫疗法的反应性和复发风险
Jonathan D Santoro1,2, Noemi A Spinazzi3, Robyn A Filipink4
1Division of Neurology, Children's Hospital Los Angeles, Los Angeles, CA, USA. santoroj@usc.edu.
Translational psychiatry
|August 8, 2023
概括
唐氏综合征回归障碍 (DSRD) 用IVIg治疗显著改善了症状. 然而,近一半的患者在停止治疗后复发,特别是那些有自身免疫病史或神经诊断异常的患者.
科学领域:
- 神经学 神经学
- 免疫学 免疫学 免疫学
背景情况:
- 唐氏综合征回归障碍 (DSRD) 呈现为神经精神病学回归,病因不明.
- 了解DSRD的特征和治疗反应对于患者管理至关重要.
研究的目的:
- 评估静脉注射免疫球蛋白 (IVIg) 在治疗DSRD的临床有效性.
- 为了确定与IVIg治疗中止后复发相关的临床因素.
主要方法:
- 一项前性,多中心的观察性研究招募了82名用IVIg治疗的DSRD患者.
- 标准化的评估包括神经精神病学库存总分 (NPITS),临床全球印象严重性 (CGI-S) 和布什-弗朗西斯形症评分表 (BFCRS).
- 患者在IVIg治疗9-12个月后接受了标准化的断奶期,以监测复发情况.
主要成果:
- 与基线相比,IVIg治疗导致BFCRS,CGI-S和NPITS得分显著降低.
- 大约46%的患者在IVIg停用后经历了神经复发.
- 复发与异常的神经诊断研究 (MRI,LP) 和个人自身免疫病史显著相关.
结论:
- 静脉注射免疫球蛋白 (IVIg) 在治疗唐氏综合征回归障碍 (DSRD) 中非常有效.
- 患有自身免疫病史或神经诊断异常发现的患者在免疫治疗后复发的风险更高.
- 这些发现表明,在DSRD病例的一个子集中,可能存在慢性自身免疫病因.
相关概念视频
Receptor Downregulation in MVBs
2.1K
Multivesicular bodies (MVBs) are mature endosomes that sort ubiquitinated proteins and then fuse with lysosomes to degrade the sorted proteins. Epidermal growth factor (EGF) and its receptor (EGFR) form a complex that can be internalized through endocytosis, sorted into an MVB, and later degraded.
The EGFR can initiate signaling pathways that lead to cell proliferation, migration, and differentiation. Overexpression of EGFR stimulates cells to proliferate. Excessive EGFR...
The EGFR can initiate signaling pathways that lead to cell proliferation, migration, and differentiation. Overexpression of EGFR stimulates cells to proliferate. Excessive EGFR...
2.1K
Immunodeficiency Diseases
974
Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
There are three main causes of immunodeficiency...
974
Tumor Immunotherapy
557
Immunotherapy is a treatment that boosts or manipulates the immune system to fight diseases, including cancer. For instance, by stimulating an immune response through vaccinations against viruses that cause cancers, like hepatitis B virus and human papillomavirus, these diseases can be prevented. Nonetheless, some cancer cells can avoid the immune system due to their rapid mutation and division. The immune response to many cancers involves three phases: elimination, equilibrium, and escape.
557


![Dynamic Imaging of Chimeric Antigen Receptor T Cells with [18F]Tetrafluoroborate Positron Emission Tomography/Computed Tomography](/_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2FCDNSource%2Fteasers%2F62334.jpg&w=3840&q=50)