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STING-Associated Vasculopathy with Onset in infancy (SAVI) Presenting as Massive Intra Alveolar Hemorrhage.

作者信息

Ladoux Clara, Pasquet Marlène, Crow Yanick J, Frémond Marie Louise, Roditis Léa

机构信息

Medical School, Pediatric Residency, University of Toulouse, Toulouse, France.

Department of Pediatric Hematology and Immunology, Children's Hospital, University Hospital, Toulouse, France.

出版信息

J Clin Immunol. 2023 May;43(4):699-702. doi: 10.1007/s10875-023-01431-9. Epub 2023 Jan 17.

DOI:10.1007/s10875-023-01431-9
PMID:36648577
Abstract
摘要

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STING-Associated Vasculopathy with Onset in infancy (SAVI) Presenting as Massive Intra Alveolar Hemorrhage.婴儿期起病的STING相关血管病（SAVI）表现为大量肺泡内出血。
J Clin Immunol. 2023 May;43(4):699-702. doi: 10.1007/s10875-023-01431-9. Epub 2023 Jan 17.
2
STING-Associated Vasculopathy with Onset in Infancy in Three Children with New Clinical Aspect and Unsatisfactory Therapeutic Responses to Tofacitinib.婴儿期起病的 STING 相关性血管病伴新型临床特征，托法替尼治疗反应不佳：三例报告
J Clin Immunol. 2020 Jan;40(1):114-122. doi: 10.1007/s10875-019-00690-9. Epub 2019 Nov 8.
3
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J Allergy Clin Immunol Pract. 2021 Feb;9(2):803-818.e11. doi: 10.1016/j.jaip.2020.11.007. Epub 2020 Nov 18.
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Case Report: Acute Thrombotic Microangiopathy in a Patient with STING-Associated Vasculopathy with Onset in Infancy (SAVI).病例报告：婴儿期起病的 STING 相关性血管病伴发急性血栓性微血管病（SAVI）。
J Clin Immunol. 2020 Nov;40(8):1111-1115. doi: 10.1007/s10875-020-00850-2. Epub 2020 Aug 29.
5
A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report.婴儿期起病的 STING 相关性血管病的罕见表现：病例报告。
Pediatr Rheumatol Online J. 2024 Jan 4;22(1):9. doi: 10.1186/s12969-023-00934-4.
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Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases.隐性 STING 相关血管病伴婴儿期起病的表型谱：四例新病例及对既往报道病例的分析。
Front Immunol. 2022 Oct 6;13:1029423. doi: 10.3389/fimmu.2022.1029423. eCollection 2022.
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Human induced pluripotent stem cells generated from STING-associated vasculopathy with onset in infancy (SAVI) patients with a heterozygous mutation in the STING gene.由 STING 相关血管病伴婴儿期起病（SAVI）患者的 STING 基因杂合突变诱导产生的人多能干细胞。
Stem Cell Res. 2022 Dec;65:102974. doi: 10.1016/j.scr.2022.102974. Epub 2022 Nov 14.
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STING-associated vasculopathy with onset in infancy (SAVI) presenting with skin lesions.婴儿期起病的STING相关血管病（SAVI）伴皮肤损害。
Pediatr Dermatol. 2024 Sep-Oct;41(5):893-896. doi: 10.1111/pde.15620. Epub 2024 Apr 29.
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Type I interferon-independent T cell impairment in a Tmem173 N153S/WT mouse model of STING associated vasculopathy with onset in infancy (SAVI).Tmem173 N153S/WT 小鼠模型中Ⅰ型干扰素非依赖性 T 细胞损伤与婴儿期起病的 STING 相关血管病（SAVI）。
Clin Immunol. 2020 Jul;216:108466. doi: 10.1016/j.clim.2020.108466. Epub 2020 May 27.
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STING-associated vasculopathy develops independently of IRF3 in mice.在小鼠中，与干扰素基因刺激蛋白（STING）相关的血管病独立于干扰素调节因子3（IRF3）而发生。
J Exp Med. 2017 Nov 6;214(11):3279-3292. doi: 10.1084/jem.20171351. Epub 2017 Sep 26.

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Breathe (Sheff). 2025 May 13;21(2):250004. doi: 10.1183/20734735.0004-2025. eCollection 2025 Apr.
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A novel STING variant triggers endothelial toxicity and SAVI disease.一种新型 STING 变体引发血管内皮毒性和 SAVI 疾病。
J Exp Med. 2024 Sep 2;221(9). doi: 10.1084/jem.20232167. Epub 2024 Jul 2.
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Case report: JAK1/2 inhibition with baricitinib in the treatment of STING-associated vasculopathy with onset in infancy.

本文引用的文献

1
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients.21 例婴儿起病的 STING 相关性血管病（SAVI）概述。
J Allergy Clin Immunol Pract. 2021 Feb;9(2):803-818.e11. doi: 10.1016/j.jaip.2020.11.007. Epub 2020 Nov 18.
2
STING-Associated Vasculopathy with Onset in Infancy in Three Children with New Clinical Aspect and Unsatisfactory Therapeutic Responses to Tofacitinib.婴儿期起病的 STING 相关性血管病伴新型临床特征，托法替尼治疗反应不佳：三例报告
J Clin Immunol. 2020 Jan;40(1):114-122. doi: 10.1007/s10875-019-00690-9. Epub 2019 Nov 8.
3
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.
病例报告：巴瑞替尼治疗婴儿期起病的 STING 相关性血管病中 JAK1/2 的抑制作用。
Pediatr Rheumatol Online J. 2023 Oct 26;21(1):131. doi: 10.1186/s12969-023-00916-6.
4
Regulation of cGAS and STING signaling during inflammation and infection.环鸟苷酸-腺苷酸合成酶（cGAS）和 STING 信号通路在炎症和感染中的调控作用。
J Biol Chem. 2023 Jul;299(7):104866. doi: 10.1016/j.jbc.2023.104866. Epub 2023 May 27.
巴瑞替尼治疗自身炎症性干扰素病的 JAK1/2 抑制作用。
J Clin Invest. 2018 Jul 2;128(7):3041-3052. doi: 10.1172/JCI98814. Epub 2018 Jun 11.
4
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.疾病相关突变鉴定出人 STING 中控制 I 型干扰素信号所必需的一个新区域。
J Allergy Clin Immunol. 2017 Aug;140(2):543-552.e5. doi: 10.1016/j.jaci.2016.10.031. Epub 2017 Jan 10.
5
Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease.科帕综合征：一种新型常染色体显性免疫调节异常疾病。
J Clin Immunol. 2016 May;36(4):377-387. doi: 10.1007/s10875-016-0271-8. Epub 2016 Apr 5.
6
Activated STING in a vascular and pulmonary syndrome.激活 STING 与血管和肺部综合征相关。
N Engl J Med. 2014 Aug 7;371(6):507-518. doi: 10.1056/NEJMoa1312625. Epub 2014 Jul 16.