• 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
Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis.功能获得性信号转导和转录激活因子1（STAT1）突变相关的原发性免疫缺陷与播散性毛霉菌病相关。
J Allergy Clin Immunol. 2014 Jul;134(1):236-9. doi: 10.1016/j.jaci.2014.02.037. Epub 2014 Apr 4.
2
Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.原发性免疫缺陷病中的进行性多灶性白质脑病：信号转导和转录激活因子1功能获得及文献综述
Clin Infect Dis. 2016 Apr 15;62(8):986-94. doi: 10.1093/cid/civ1220. Epub 2016 Jan 6.
3
Baricitinib treatment in a patient with a gain-of-function mutation in signal transducer and activator of transcription 1 (STAT1).巴瑞替尼治疗一名信号转导和转录激活因子1（STAT1）功能获得性突变患者。
J Allergy Clin Immunol. 2018 Jul;142(1):328-330.e2. doi: 10.1016/j.jaci.2018.02.045. Epub 2018 May 2.
4
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.芦可替尼部分逆转信号转导子和转录激活子 1（STAT1）功能获得性突变患者功能性自然杀伤细胞缺陷。
J Allergy Clin Immunol. 2018 Jun;141(6):2142-2155.e5. doi: 10.1016/j.jaci.2017.08.040. Epub 2017 Oct 27.
5
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.26例因信号转导和转录激活因子1（STAT1）功能获得性突变所致慢性黏膜皮肤念珠菌病患者的扩展临床表型
J Clin Immunol. 2016 Jan;36(1):73-84. doi: 10.1007/s10875-015-0214-9. Epub 2015 Nov 25.
6
Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies.单基因变异对人类原发性免疫缺陷患者中T滤泡辅助细胞的数量和质量有不同影响。
J Allergy Clin Immunol. 2015 Oct;136(4):993-1006.e1. doi: 10.1016/j.jaci.2015.05.036. Epub 2015 Jul 7.
7
Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis.常染色体显性功能获得性 STAT1 突变与严重支气管扩张症
Respir Med. 2017 May;126:39-45. doi: 10.1016/j.rmed.2017.03.018. Epub 2017 Mar 22.
8
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.信号转导子和转录激活子 1（STAT1）功能获得性突变与播散性球孢子菌病和组织胞浆菌病。
J Allergy Clin Immunol. 2013 Jun;131(6):1624-34. doi: 10.1016/j.jaci.2013.01.052. Epub 2013 Mar 28.
9
Signal transducer and activator of transcription gain-of-function primary immunodeficiency/immunodysregulation disorders.信号转导子和转录激活子功能获得性原发性免疫缺陷/免疫失调紊乱。
Curr Opin Pediatr. 2017 Dec;29(6):711-717. doi: 10.1097/MOP.0000000000000551.
10
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.Jakinibs 治疗信号转导子和转录激活因子 1（STAT1）或 STAT3 基因突变致免疫失调患者。
J Allergy Clin Immunol. 2018 Nov;142(5):1665-1669. doi: 10.1016/j.jaci.2018.07.020. Epub 2018 Aug 6.

引用本文的文献

1
Future Prospects and Challenges in Mucormycosis Research.毛霉病研究的未来前景与挑战
J Fungi (Basel). 2025 Jul 22;11(8):545. doi: 10.3390/jof11080545.
2
A novel mutation site in STAT in a chronic mucocutaneous candidiasis pediatric patient with disseminated cryptococcosis: Case report and review of the literature.一名患有播散性隐球菌病的慢性黏膜皮肤念珠菌病儿科患者中STAT的一个新突变位点：病例报告及文献复习
Pediatr Discov. 2024 May 14;2(2):e58. doi: 10.1002/pdi3.58. eCollection 2024 Jun.
3
Leveraging Systems Immunology to Optimize Diagnosis and Treatment of Inborn Errors of Immunity.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
Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.论菌丝体与人类：人类对真菌疾病的内在易感性
Pathogens. 2023 Mar 14;12(3):456. doi: 10.3390/pathogens12030456.
5
What Is New in Pulmonary Mucormycosis?肺毛霉病有哪些新进展？
J Fungi (Basel). 2023 Feb 28;9(3):307. doi: 10.3390/jof9030307.
6
Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases.导致儿童易患真菌病的先天性免疫缺陷
J Fungi (Basel). 2023 Jan 22;9(2):149. doi: 10.3390/jof9020149.
7
Epidemiology and Pathophysiology of COVID-19-Associated Mucormycosis: India Versus the Rest of the World.COVID-19 相关毛霉菌病的流行病学和发病机制：印度与世界其他地区。
Mycopathologia. 2021 Dec;186(6):739-754. doi: 10.1007/s11046-021-00584-8. Epub 2021 Aug 19.
8
Genetic susceptibility to fungal infection in children.儿童真菌感染的遗传易感性。
Curr Opin Pediatr. 2020 Dec;32(6):780-789. doi: 10.1097/MOP.0000000000000948.
9
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.
10
Targeted Therapy with Biologicals and Small Molecules in Primary Immunodeficiencies.原发性免疫缺陷病的生物制剂和小分子靶向治疗。
Med Princ Pract. 2020;29(2):101-112. doi: 10.1159/000503997. Epub 2019 Oct 10.

本文引用的文献

1
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.信号转导子和转录激活子 1（STAT1）功能获得性突变与播散性球孢子菌病和组织胞浆菌病。
J Allergy Clin Immunol. 2013 Jun;131(6):1624-34. doi: 10.1016/j.jaci.2013.01.052. Epub 2013 Mar 28.
2
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.
3
Necrotizing cutaneous mucormycosis after a tornado in Joplin, Missouri, in 2011.2011 年美国密苏里州乔普林龙卷风后的坏死性皮肤毛霉菌病。
N Engl J Med. 2012 Dec 6;367(23):2214-25. doi: 10.1056/NEJMoa1204781.
4
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.常染色体显性遗传慢性黏膜皮肤念珠菌病伴 STAT1 基因突变可并发慢性活动性肝炎和甲状腺功能减退症。
J Clin Immunol. 2012 Dec;32(6):1213-20. doi: 10.1007/s10875-012-9744-6. Epub 2012 Jul 31.
5
Inborn errors of human JAKs and STATs.人类 JAK 和 STAT 的先天缺陷。
Immunity. 2012 Apr 20;36(4):515-28. doi: 10.1016/j.immuni.2012.03.016.
6
Early clinical and laboratory diagnosis of invasive pulmonary, extrapulmonary, and disseminated mucormycosis (zygomycosis).侵袭性肺、肺外和播散性毛霉病（接合菌病）的早期临床和实验室诊断。
Clin Infect Dis. 2012 Feb;54 Suppl 1:S55-60. doi: 10.1093/cid/cir868.
7
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。
J Exp Med. 2011 Aug 1;208(8):1635-48. doi: 10.1084/jem.20110958. Epub 2011 Jul 4.
8
Molecular phylogenetic diversity of the emerging mucoralean fungus Apophysomyces: proposal of three new species.新出现的毛霉目真菌阿波枝霉的分子系统发育多样性：三个新物种的提议
Rev Iberoam Micol. 2010 Jun 30;27(2):80-9. doi: 10.1016/j.riam.2010.01.006. Epub 2010 Mar 4.
9
Rhino-orbitocerebral mucormycosis caused by Apophysomyces elegans.雅致附霉引起的鼻眶脑毛霉病。
J Clin Microbiol. 2006 Mar;44(3):892-8. doi: 10.1128/JCM.44.3.892-898.2006.

功能获得性信号转导和转录激活因子1（STAT1）突变相关的原发性免疫缺陷与播散性毛霉菌病相关。

Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis.

作者信息

Kumar Nilay, Hanks Mary E, Chandrasekaran Prabha, Davis Brian C, Hsu Amy P, Van Wagoner Nicholas J, Merlin Jessica S, Spalding Christine, La Hoz Ricardo M, Holland Steven M, Zerbe Christa S, Sampaio Elizabeth P

机构信息

Department of Medicine, University of Alabama at Birmingham, Birmingham, Ala.

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.

出版信息

J Allergy Clin Immunol. 2014 Jul;134(1):236-9. doi: 10.1016/j.jaci.2014.02.037. Epub 2014 Apr 4.

DOI:10.1016/j.jaci.2014.02.037
PMID:24709374
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4125455/
Abstract

We identified a novel gain of function mutation in in a patient with disseminated infection who had never had mucocutaneous candidiasis or autoimmunity. To our knowledge this is the first report of a genetic predisposition associated with mucormycosis.

摘要

我们在一名播散性感染患者中发现了一种新的功能获得性突变，该患者从未患过黏膜皮肤念珠菌病或自身免疫性疾病。据我们所知，这是第一份与毛霉病相关的遗传易感性报告。