• 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

Emapalumab as bridge to hematopoietic cell transplant for STAT1 gain-of-function mutations.

作者信息

Kunvarjee Binni, Bidgoli Alan, Madan Rebecca Pellett, Vidal Esther, McAvoy Devin, Hosszu Kinga K, Scaradavou Andromachi, Spitzer Barbara G, Curran Kevin J, Cancio Maria, Harris Andrew C, O'Reilly Richard J, Kung Andrew L, Prockop Susan, Boelens Jaap Jan, Oved Joseph H

机构信息

Department of Pharmacy, Memorial Sloan Kettering Cancer Center, New York, NY.

Pediatric Bone Marrow Transplant and Cellular Therapy Program, MSK Kids, Memorial Sloan Kettering Cancer Center, New York, NY.

出版信息

J Allergy Clin Immunol. 2023 Sep;152(3):815-817. doi: 10.1016/j.jaci.2023.05.016. Epub 2023 Jun 26.

DOI:10.1016/j.jaci.2023.05.016
PMID:37367708
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11066755/
Abstract
摘要

相似文献

1
Emapalumab as bridge to hematopoietic cell transplant for STAT1 gain-of-function mutations.依玛帕鲁单抗作为STAT1功能获得性突变患者造血细胞移植的桥梁治疗。
J Allergy Clin Immunol. 2023 Sep;152(3):815-817. doi: 10.1016/j.jaci.2023.05.016. Epub 2023 Jun 26.
2
Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasis.来自一名慢性黏膜皮肤念珠菌病患者的人类信号转导和转录激活因子1（STAT1）功能获得性诱导多能干细胞系。
Stem Cell Res. 2020 Mar;43:101713. doi: 10.1016/j.scr.2020.101713. Epub 2020 Jan 17.
3
Heterozygous gain-of-function mutations in human STAT1: A case of hemophagocytic lymphohistiocytosis due to chronic mucocutaneous candidiasis in a 17-month-old male.人类 STAT1 基因杂合功能获得性突变：一名 17 个月大男性因慢性黏膜皮肤念珠菌病导致噬血细胞性淋巴组织细胞增生症的病例。
Pediatr Blood Cancer. 2023 Jun;70(6):e30284. doi: 10.1002/pbc.30284. Epub 2023 Mar 7.
4
Practical challenges for functional validation of STAT1 gain of function genetic variants.STAT1功能获得性基因变异功能验证的实际挑战。
Clin Exp Immunol. 2023 Apr 25;212(2):166-169. doi: 10.1093/cei/uxad008.
5
Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1.由于 STAT1 功能获得性突变引起的慢性黏膜皮肤念珠菌病。
Oral Dis. 2019 Apr;25(3):684-692. doi: 10.1111/odi.12881. Epub 2018 Jun 8.
6
Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.表现为联合免疫缺陷的新型信号转导与转录激活因子1功能获得性突变
J Clin Immunol. 2018 Oct;38(7):753-756. doi: 10.1007/s10875-018-0554-3. Epub 2018 Oct 13.
7
Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.新型 STAT1 泛素化位点功能获得性突变导致 CMC/CID 表型，对芦可替尼有反应。
J Clin Immunol. 2019 Nov;39(8):776-785. doi: 10.1007/s10875-019-00687-4. Epub 2019 Sep 11.
8
Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.新型 STAT1 功能获得性突变导致的慢性黏膜皮肤念珠菌病患儿使用芦可替尼的疗效。
J Clin Immunol. 2018 Jul;38(5):589-601. doi: 10.1007/s10875-018-0519-6. Epub 2018 Jun 22.
9
Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation.罗沙司他桥接治疗和移植后，由于 STAT1 功能获得性突变导致免疫失调的逐步逆转。
J Clin Immunol. 2021 May;41(4):769-779. doi: 10.1007/s10875-020-00943-y. Epub 2021 Jan 21.
10
STAT1 gain-of-function and chronic demodicosis.STAT1 获得性功能与慢性蠕形螨病。
Pediatr Dermatol. 2020 Jan;37(1):153-155. doi: 10.1111/pde.14011. Epub 2019 Oct 21.

引用本文的文献

1
Haematopoietic stem cell transplant for inborn errors of immunity-Who and when?用于免疫缺陷先天性疾病的造血干细胞移植——哪些人适合以及何时进行？
Br J Haematol. 2025 Jul 7. doi: 10.1111/bjh.20248.
2
Emapalumab for the Treatment of Immune-Mediated Graft Failure after HSCT.依帕鲁单抗用于治疗异基因造血干细胞移植后免疫介导的移植物衰竭
Bone Marrow Transplant. 2025 Mar;60(3):406-411. doi: 10.1038/s41409-024-02487-w. Epub 2024 Dec 3.
3
Infections in Inborn Errors of STATs.STATs先天性缺陷中的感染
Pathogens. 2024 Nov 1;13(11):955. doi: 10.3390/pathogens13110955.
4
STAT1 and STAT3 gain of function: clinically heterogenous immune regulatory disorders.STAT1 和 STAT3 获得性功能：临床异质性免疫调节紊乱。
Curr Opin Allergy Clin Immunol. 2024 Dec 1;24(6):440-447. doi: 10.1097/ACI.0000000000001039. Epub 2024 Oct 17.
5
A semiautomated microfluidic ELISA for the detection of hemophagocytic lymphohistiocytosis biomarkers.一种用于检测噬血细胞性淋巴组织细胞增生症生物标志物的半自动微流控酶联免疫吸附测定法。
Am J Clin Pathol. 2025 Jan 28;163(1):80-86. doi: 10.1093/ajcp/aqae097.
6
Retrospective identification of the first cord blood-transplanted severe aplastic anemia in a -associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background.与慢性黏膜皮肤念珠菌病相关家族中首例脐血移植治疗重型再生障碍性贫血的回顾性鉴定：病例报告、文献综述及病理生理背景
Front Immunol. 2024 Jul 24;15:1430938. doi: 10.3389/fimmu.2024.1430938. eCollection 2024.
7
Emapalumab as salvage therapy for adults with malignancy-associated hemophagocytic lymphohistiocytosis.依帕鲁单抗作为恶性肿瘤相关性噬血细胞性淋巴组织细胞增生症成人患者的挽救治疗药物。
Haematologica. 2024 Sep 1;109(9):2998-3003. doi: 10.3324/haematol.2023.284179.
8
Progress in molecular diagnosis and treatment of chronic mucocutaneous candidiasis.慢性黏膜皮肤念珠菌病的分子诊断与治疗进展。
Front Immunol. 2024 Jan 24;15:1343138. doi: 10.3389/fimmu.2024.1343138. eCollection 2024.

本文引用的文献

1
Graft rejection markers in children undergoing hematopoietic cell transplant for bone marrow failure.骨髓衰竭患儿造血细胞移植中移植物排斥标志物。
Blood Adv. 2021 Nov 23;5(22):4594-4604. doi: 10.1182/bloodadvances.2021005231.
2
Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.功能获得性突变导致总 STAT1 水平升高，同时磷酸化正常。
Front Immunol. 2019 Jul 10;10:1433. doi: 10.3389/fimmu.2019.01433. eCollection 2019.
3
Role of interferon-γ in immune-mediated graft failure after allogeneic hematopoietic stem cell transplantation.干扰素-γ 在异基因造血干细胞移植后免疫介导的移植物失败中的作用。
Haematologica. 2019 Nov;104(11):2314-2323. doi: 10.3324/haematol.2019.216101. Epub 2019 Feb 21.
4
Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.信号转导子和转录激活子 1 基因突变功能获得型患者的造血干细胞移植。
J Allergy Clin Immunol. 2018 Feb;141(2):704-717.e5. doi: 10.1016/j.jaci.2017.03.049. Epub 2017 Jun 7.
5
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.