病例报告:卡布基综合征患者的巨细胞激活综合征
Jingyuan Zhang1, Yuanbo Kang2, Zenan Xia2
1Department of Rare Diseases, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College; State Key Laboratory of Complex Severe and Rare Diseases, PUMCH; Department of Rheumatology and Clinical Immunology, PUMCH; National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology; Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
Frontiers in immunology
|August 14, 2024
概括
巨细胞激活综合征 (MAS) 是儿科炎症疾病的严重并发症,在卡布基综合征 (KS) 患者中报告. 这个案例突出显示了KMT2D基因变异.
科学领域:
- 遗传学 遗传学 是一个
- 免疫学 免疫学 免疫学
- 儿科 儿科 儿科
背景情况:
- 卡布基综合征 (KS) 是一种罕见的先天性疾病,主要是由KMT2D基因变异引起的,经常出现多器官缺陷.
- 巨细胞激活综合征 (MAS) 是一种严重的,危及生命的并发症,与各种儿科炎症性疾病有关.


