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Editorial: DADA2 and other monogenic vasculitides.

作者信息

Lee Pui Y, Batu Ezgi D, Ozen Seza

机构信息

Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.

Department of Pediatric Rheumatology, Hacettepe University, Ankara, Türkiye.

出版信息

Front Immunol. 2022 Dec 8;13:1108853. doi: 10.3389/fimmu.2022.1108853. eCollection 2022.

DOI:10.3389/fimmu.2022.1108853
PMID:36569902
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9773834/
Abstract
摘要

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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。
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本文引用的文献

1
Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2).腺苷脱氨酶2缺乏(DADA2)时的血管炎症机制
Semin Immunopathol. 2022 May;44(3):269-280. doi: 10.1007/s00281-022-00918-8. Epub 2022 Feb 17.
2
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.造血细胞移植治愈腺苷脱氨酶 2 缺乏症:30 例患者报告。
J Clin Immunol. 2021 Oct;41(7):1633-1647. doi: 10.1007/s10875-021-01098-0. Epub 2021 Jul 29.
3
Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 hyperactivation.对腺苷脱氨酶2缺乏症日本患者的详细分析显示,II型干扰素特征明显升高且STAT1过度激活。
J Allergy Clin Immunol. 2021 Aug;148(2):550-562. doi: 10.1016/j.jaci.2021.01.018. Epub 2021 Jan 30.
4
Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2).抗肿瘤坏死因子治疗预防腺苷脱氨酶 2 缺乏症(DADA2)患者的缺血事件。
Rheumatology (Oxford). 2021 Sep 1;60(9):4373-4378. doi: 10.1093/rheumatology/keaa837.
5
Cellular sensing of extracellular purine nucleosides triggers an innate IFN-β response.细胞对细胞外嘌呤核苷的感知会触发先天性IFN-β反应。
Sci Adv. 2020 Jul 22;6(30):eaba3688. doi: 10.1126/sciadv.aba3688. eCollection 2020 Jul.
6
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.
7
Polyarteritis nodosa and deficiency of adenosine deaminase 2 - Shared genealogy, generations apart.结节性多动脉炎和腺苷脱氨酶 2 缺乏症——相隔几代的共同谱系。
Clin Immunol. 2020 Jun;215:108411. doi: 10.1016/j.clim.2020.108411. Epub 2020 Apr 7.
8
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.
9
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.
10
Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2.腺苷脱氨酶 2 缺乏会触发 DADA2 患者中的腺苷介导的 NETosis 和 TNF 产生。
Blood. 2019 Jul 25;134(4):395-406. doi: 10.1182/blood.2018892752. Epub 2019 Apr 23.