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Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation.

作者信息

Smyth Anna E, Kaleviste Epp, Snow Aisling, Kisand Kai, McMahon Colin J, Cant Andrew J, Leahy T Ronan

机构信息

Department of Radiology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.

Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.

出版信息

J Clin Immunol. 2018 May;38(4):468-470. doi: 10.1007/s10875-018-0513-z. Epub 2018 May 26.

DOI:10.1007/s10875-018-0513-z
PMID:29804236
Abstract
摘要

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本文引用的文献

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Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.杂合性信号转导和转录激活因子1（STAT1）功能获得性突变是一种临床表型出人意料广泛的疾病的基础。
Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25.
2
Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation.使用鲁索替尼成功治疗由功能获得性信号转导和转录激活因子1（STAT1）突变引起的慢性黏膜皮肤念珠菌病。
J Allergy Clin Immunol. 2015 Feb;135(2):551-3. doi: 10.1016/j.jaci.2014.12.1867.
3
利用系统免疫学优化免疫缺陷病的诊断与治疗
Front Syst Biol. 2022;2. doi: 10.3389/fsysb.2022.910243. Epub 2022 Jul 18.
4
Exosomal STAT1 derived from high phosphorus‑stimulated vascular endothelial cells induces vascular smooth muscle cell calcification via the Wnt/β‑catenin signaling pathway.高磷刺激的血管内皮细胞来源的外泌体 STAT1 通过 Wnt/β-catenin 信号通路诱导血管平滑肌细胞钙化。
Int J Mol Med. 2022 Dec;50(6). doi: 10.3892/ijmm.2022.5195. Epub 2022 Oct 25.
5
The type I interferonopathies: 10 years on.Ⅰ型干扰素病：10 年进展。
Nat Rev Immunol. 2022 Aug;22(8):471-483. doi: 10.1038/s41577-021-00633-9. Epub 2021 Oct 20.
6
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.STAT1 种系获得性功能和失能性功能突变的临床意义：系统综述。
Front Immunol. 2021 Mar 11;12:654406. doi: 10.3389/fimmu.2021.654406. eCollection 2021.
7
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.人类 STAT1 功能获得性杂合突变：慢性黏膜皮肤念珠菌病和 I 型干扰素病。
J Clin Immunol. 2020 Nov;40(8):1065-1081. doi: 10.1007/s10875-020-00847-x. Epub 2020 Aug 27.
8
Loss of PARP-1 attenuates diabetic arteriosclerotic calcification via Stat1/Runx2 axis.PARP-1 的缺失通过 Stat1/Runx2 轴减轻糖尿病性动脉粥样硬化钙化。
Cell Death Dis. 2020 Jan 10;11(1):22. doi: 10.1038/s41419-019-2215-8.
9
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Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.FOXP3 野生型免疫失调-多内分泌腺病-肠病-性连锁综合征中的显性获得性功能 STAT1 突变。
J Allergy Clin Immunol. 2013 Jun;131(6):1611-23. doi: 10.1016/j.jaci.2012.11.054. Epub 2013 Mar 25.
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Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.功能获得性人类 STAT1 突变会损害 IL-17 免疫，并导致慢性黏膜皮肤念珠菌病。
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STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.常染色体显性遗传慢性黏膜皮肤念珠菌病中的 STAT1 突变。
N Engl J Med. 2011 Jul 7;365(1):54-61. doi: 10.1056/NEJMoa1100102. Epub 2011 Jun 29.