临床症状,实验室参数和国家DADA2队列中的长期随访
Marie Valérie E Andriessen1, G Elizabeth Legger2, Robbert G M Bredius3
1Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Utrecht University, PO Box 85050, 3508 GA, Utrecht, the Netherlands.
Journal of clinical immunology
|June 5, 2023
概括
腺脱氨酶-2 (DADA2) 缺乏症是一种罕见的自身炎症性疾病. 这项荷兰队列研究强调了其多种症状,包括血管病变,感染和恶性瘤,死亡率很高.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 类风湿病学 类风湿病学
背景情况:
- 腺脱氨酶-2 (DADA2) 缺乏症是一种自体逆向性自身炎症性疾病,其临床表现非常可变.
- 了解DADA2表现和结果的全谱对于患者管理至关重要.
结论:
- 这项研究描述了荷兰队列中DADA2的临床和遗传情景,强调HLH,恶性瘤和死亡率.
- 造血细胞移植在严重病例中表现有前途,而TNF抑制剂在血管病变中比血液问题更有效.
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