• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Deficiency of adenosine deaminase 2 (DADA2) with recurrent ischemic stroke, fever and cutaneous changes: A case report.

作者信息

Hu Nan, Wang Erqian, Zhu Yicheng, Shen Min, Han Fei

机构信息

Department of Neurology, Peking Union Medical College Hospital, 100730, Beijing, China.

Department of Ophthalmology, Peking Union Medical College Hospital, 100730, Beijing, China.

出版信息

Neurol Sci. 2025 Jun;46(6):2867-2874. doi: 10.1007/s10072-025-07991-5. Epub 2025 Jan 11.

DOI:10.1007/s10072-025-07991-5
PMID:39798069
Abstract
摘要

相似文献

1
Deficiency of adenosine deaminase 2 (DADA2) with recurrent ischemic stroke, fever and cutaneous changes: A case report.伴有复发性缺血性中风、发热和皮肤改变的腺苷脱氨酶2缺乏症（DADA2）：一例报告。
Neurol Sci. 2025 Jun;46(6):2867-2874. doi: 10.1007/s10072-025-07991-5. Epub 2025 Jan 11.
2
Adenosine Deaminase 2 Deficiency腺苷脱氨酶2缺乏症
3
Allogeneic Hematopoietic Cell Transplantation for Patients With Deficiency of Adenosine Deaminase 2 (DADA2): Approaches, Obstacles and Special Considerations.同种异体造血细胞移植治疗腺苷脱氨酶 2 缺乏症（DADA2）患者：方法、障碍和特殊考虑。
Front Immunol. 2022 Jul 7;13:932385. doi: 10.3389/fimmu.2022.932385. eCollection 2022.
4
A Unique Case of Deficiency of Adenosine Deaminase 2 Single in a Young Adult Patient.一名年轻成年患者单独出现腺苷脱氨酶2缺乏的独特病例。
Cureus. 2023 Jan 2;15(1):e33273. doi: 10.7759/cureus.33273. eCollection 2023 Jan.
5
A 9.5-year-old boy with recurrent neurological manifestations and severe hypertension, treated initially for polyarteritis nodosa, was subsequently diagnosed with adenosine deaminase type 2 deficiency (DADA2) which responded to anti-TNF-α.一名 9.5 岁男孩出现反复的神经表现和严重高血压，最初被诊断为结节性多动脉炎，随后被诊断为腺苷脱氨酶 2 型缺乏症（DADA2），对 TNF-α 拮抗剂治疗有反应。
Paediatr Int Child Health. 2020 Feb;40(1):65-68. doi: 10.1080/20469047.2018.1559495. Epub 2019 Jan 15.
6
Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series.儿童腺苷脱氨酶 2 缺乏症的临床表现：病例系列研究。
Eur J Med Genet. 2022 Aug;65(8):104555. doi: 10.1016/j.ejmg.2022.104555. Epub 2022 Jun 28.
7
Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment.两名无关的腺苷脱氨酶2缺乏症伊朗患者：病例报告及治疗综述
Case Reports Immunol. 2024 Aug 12;2024:4380689. doi: 10.1155/2024/4380689. eCollection 2024.
8
Deficiency of adenosine deaminase 2 (DADA2) presented with bilateral renal subcapsular hematoma: a case report and literature review.腺苷脱氨酶2缺乏症（DADA2）表现为双侧肾包膜下血肿：一例报告及文献复习
Ann Med Surg (Lond). 2024 Aug 22;86(11):6717-6720. doi: 10.1097/MS9.0000000000002340. eCollection 2024 Nov.
9
A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency.人类腺苷脱氨酶 2 缺乏症的神经表现的叙述性综述。
J Clin Immunol. 2023 Nov;43(8):1916-1926. doi: 10.1007/s10875-023-01555-y. Epub 2023 Aug 7.
10
Adult-onset deficiency of adenosine deaminase 2-a case report and literature review.成人发作型腺苷脱氨酶 2 缺乏症-病例报告及文献复习。
Clin Rheumatol. 2021 Oct;40(10):4325-4339. doi: 10.1007/s10067-021-05587-w. Epub 2021 Feb 26.

本文引用的文献

1
A case report on deficiency of adenosine deaminase 2 with relapse-remission course and analysis of genotype-phenotype correlation.一例腺苷脱氨酶2缺乏伴复发-缓解病程的病例报告及基因型-表型相关性分析
Am J Med Genet A. 2024 Jun;194(6):e63568. doi: 10.1002/ajmg.a.63568. Epub 2024 Feb 14.
2
A Successful Infliximab Treatment of a Pediatric Case of Severe Polyarteritis Nodosa With a Cerebral Infarction and a Decreased Adenosine Deaminase 2 Activity.英夫利昔单抗成功治疗1例患有脑梗死且腺苷脱氨酶2活性降低的小儿重症结节性多动脉炎病例
Cureus. 2023 Oct 30;15(10):e47952. doi: 10.7759/cureus.47952. eCollection 2023 Oct.
3
Deficiency of adenosine deaminase 2 as an unrecognized cause of early-onset stroke and cranial nerve palsy.
腺苷脱氨酶2缺乏作为早发性中风和颅神经麻痹的一种未被认识的病因
North Clin Istanb. 2023 Aug 2;10(4):411-417. doi: 10.14744/nci.2022.45380. eCollection 2023.
4
Adenosine Deaminase 2 Deficiency Caused by Biallele Variants Including Splicing Variant: The First Case in Korea.双等位基因变异包括剪接变异导致的腺苷脱氨酶2缺乏症：韩国首例病例。
J Rheum Dis. 2022 Oct 1;29(4):254-260. doi: 10.4078/jrd.21.0046. Epub 2022 Jul 5.
5
Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report.免疫缺陷相关脑桥梗死：腺苷脱氨酶 2 缺乏症：病例报告。
J Clin Immunol. 2023 Oct;43(7):1597-1602. doi: 10.1007/s10875-023-01526-3. Epub 2023 Jun 12.
6
A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review.广泛表型的脱氨酶 2 缺乏症（DADA2）：系统文献回顾。
Orphanet J Rare Dis. 2023 May 13;18(1):117. doi: 10.1186/s13023-023-02721-6.
7
TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency: A Case Series.TNF 阻断剂治疗腺苷脱氨酶 2 缺乏症患者的首发卒中：病例系列研究。
Neurol Neuroimmunol Neuroinflamm. 2023 Mar 20;10(3). doi: 10.1212/NXI.0000000000200073. Print 2023 May.
8
Ischaemic cerebral small vessel disease caused by adenosine deaminase 2 deficiency syndrome.腺苷脱氨酶2缺乏综合征所致缺血性脑小血管病
Eur J Neurol. 2023 Apr;30(4):1148-1151. doi: 10.1111/ene.15708. Epub 2023 Feb 7.
9
Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy.病例报告：腺苷脱氨酶 2（DADA2）缺乏症导致 3 岁女孩脑干卒中及早期快速基因诊断对影响治疗的重要性。
Neuropediatrics. 2022 Dec;53(6):432-435. doi: 10.1055/a-1896-5817. Epub 2022 Jul 11.
10
Young Stroke and Systemic Manifestations: Deficiency of Adenosine Deaminase-2 (DADA-2).青年卒中与全身表现：腺苷脱氨酶2缺乏症（DADA - 2）
Ann Indian Acad Neurol. 2021 Nov-Dec;24(6):977-979. doi: 10.4103/aian.AIAN_657_20. Epub 2021 May 21.