• 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

相似文献

1
Extreme Phenotypic Variation in Siblings with Identical Homozygous Mutations Causing ADA2 Deficiency: A Case Series.具有相同纯合突变导致ADA2缺乏的兄弟姐妹中的极端表型变异：病例系列
Turk J Haematol. 2025 Feb 28;42(1):61-64. doi: 10.4274/tjh.galenos.2025.2024.0373. Epub 2025 Jan 7.
2
A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.一种具有多种表型的单基因疾病：腺苷脱氨酶 2 缺乏症。
J Rheumatol. 2020 Jan;47(1):117-125. doi: 10.3899/jrheum.181384. Epub 2019 May 1.
3
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.腺苷脱氨酶 2 缺乏症（DADA2）：隐匿性变异、低外显率和异常遗传方式。
J Clin Immunol. 2020 Aug;40(6):917-926. doi: 10.1007/s10875-020-00817-3. Epub 2020 Jul 8.
4
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.腺苷脱氨酶 2 缺乏症（DADA2）：表型、遗传学、发病机制和治疗的最新进展。
J Clin Immunol. 2018 Jul;38(5):569-578. doi: 10.1007/s10875-018-0525-8. Epub 2018 Jun 27.
5
Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review.两例 ADA2 缺陷症病例表现为儿童结节性多动脉炎：新型 ADA2 变异体、非典型中枢神经系统表现及文献复习。
Clin Rheumatol. 2020 Dec;39(12):3853-3860. doi: 10.1007/s10067-020-05210-4. Epub 2020 Jun 13.
6
Deficiency of adenosine deaminase 2 (DADA2): Review.腺苷脱氨酶2缺乏症（DADA2）：综述
Best Pract Res Clin Rheumatol. 2023 Mar;37(1):101844. doi: 10.1016/j.berh.2023.101844. Epub 2023 Jun 15.
7
Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa.腺苷脱氨酶2缺乏症：结节性多动脉炎的一项具有挑战性的鉴别诊断。
Reumatologia. 2023;61(1):45-54. doi: 10.5114/reum.2023.124878. Epub 2023 Mar 8.
8
Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2.血管病变、免疫缺陷与骨髓衰竭：由腺苷脱氨酶2缺乏引起的罕见综合征
Front Pediatr. 2018 Oct 18;6:282. doi: 10.3389/fped.2018.00282. eCollection 2018.
9
Deficiency of Adenosine Deaminase 2: Clinical Manifestations, Diagnosis, and Treatment.腺苷脱氨酶2缺乏症：临床表现、诊断与治疗
Rheum Dis Clin North Am. 2023 Nov;49(4):773-787. doi: 10.1016/j.rdc.2023.06.004. Epub 2023 Aug 1.
10
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.

本文引用的文献

1
Deficiency of Adenosine Deaminase 2.腺苷脱氨酶 2 缺乏症。
Turk J Haematol. 2024 Aug 28;41(3):133-140. doi: 10.4274/tjh.galenos.2024.2024.0265. Epub 2024 Aug 9.
2
Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.DADA2 相关疾病谱的扩展：表型、遗传学、发病机制和治疗的综述。
Clin Rheumatol. 2021 Oct;40(10):3883-3896. doi: 10.1007/s10067-021-05711-w. Epub 2021 Mar 31.
3
Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).腺苷脱氨酶 2 缺乏症（DADA2）的疾病表型的基因型和功能相关性。
J Allergy Clin Immunol. 2020 Jun;145(6):1664-1672.e10. doi: 10.1016/j.jaci.2019.12.908. Epub 2020 Jan 13.
4
A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.一种具有多种表型的单基因疾病：腺苷脱氨酶 2 缺乏症。
J Rheumatol. 2020 Jan;47(1):117-125. doi: 10.3899/jrheum.181384. Epub 2019 May 1.
5
ADA2 deficiency: Clonal lymphoproliferation in a subset of patients.腺苷脱氨酶2缺乏症：部分患者中的克隆性淋巴细胞增殖
J Allergy Clin Immunol. 2018 Apr;141(4):1534-1537.e8. doi: 10.1016/j.jaci.2018.01.012. Epub 2018 Jan 31.
6
A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations.一组强调治疗及基因型-表型相关性的腺苷脱氨酶2缺乏症患者病例系列
J Rheumatol. 2015 Aug;42(8):1532-4. doi: 10.3899/jrheum.150024.
7
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.突变的腺苷脱氨酶 2 与结节性多动脉炎血管病变。
N Engl J Med. 2014 Mar 6;370(10):921-31. doi: 10.1056/NEJMoa1307362. Epub 2014 Feb 19.
8
Early-onset stroke and vasculopathy associated with mutations in ADA2.早发性卒中和与 ADA2 突变相关的血管病变。
N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19.

Extreme Phenotypic Variation in Siblings with Identical Homozygous Mutations Causing ADA2 Deficiency: A Case Series.

作者信息

Aksu Muhammed D, Özen Seza, Aksu Tekin, Gürel Ayşe, Çetinkaya Arda, Ünal Şule

机构信息

Hacettepe University Faculty of Medicine, Ankara, Türkiye

Hacettepe University Cancer Institute, Department of Basic Oncology, Ankara, Türkiye

出版信息

Turk J Haematol. 2025 Feb 28;42(1):61-64. doi: 10.4274/tjh.galenos.2025.2024.0373. Epub 2025 Jan 7.

DOI:10.4274/tjh.galenos.2025.2024.0373
PMID:39764790
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11869147/
Abstract
摘要