• 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

Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report and Literature Review.

作者信息

Tovo Pier-Angelo, Garazzino Silvia, Saglio Francesco, Scolfaro Carlo, Bustamante Jacinta, Badolato Raffaele, Fagioli Franca

机构信息

Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy.

Department of Pediatrics, Infectious Diseases Unit, Regina Margherita Children's Hospital, Turin, Italy.

出版信息

J Clin Immunol. 2020 Nov;40(8):1191-1195. doi: 10.1007/s10875-020-00855-x. Epub 2020 Sep 10.

DOI:10.1007/s10875-020-00855-x
PMID:32909233
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7567729/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bc7/7567729/90e790d2071c/10875_2020_855_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bc7/7567729/43b3b9b8be22/10875_2020_855_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bc7/7567729/90e790d2071c/10875_2020_855_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bc7/7567729/43b3b9b8be22/10875_2020_855_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bc7/7567729/90e790d2071c/10875_2020_855_Fig2_HTML.jpg

相似文献

1
Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report and Literature Review.一例完全性γ干扰素受体2缺陷患者成功进行造血干细胞移植：病例报告及文献综述
J Clin Immunol. 2020 Nov;40(8):1191-1195. doi: 10.1007/s10875-020-00855-x. Epub 2020 Sep 10.
2
Successful Matched Related Bone Marrow Transplantation in a Patient with Autosomal Dominant Interferon Gamma Receptor 1 Deficiency.自体显性干扰素γ受体 1 缺陷患者行成功的匹配相关骨髓移植。
J Clin Immunol. 2020 Oct;40(7):1045-1047. doi: 10.1007/s10875-020-00826-2. Epub 2020 Jul 21.
3
Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency.一名患有播散性偶然分枝杆菌感染且存在γ干扰素受体1缺陷的儿童成功进行了造血干细胞移植。
Bone Marrow Transplant. 2006 Jul;38(1):75-6. doi: 10.1038/sj.bmt.1705399. Epub 2006 May 22.
4
Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency.干扰素γ受体缺陷患儿异基因造血干细胞移植成功。
Pediatr Infect Dis J. 2009 Jul;28(7):658-60. doi: 10.1097/INF.0b013e318195092e.
5
Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.一名完全性γ干扰素受体1缺乏症患儿的诊断和治疗挑战
Pediatr Blood Cancer. 2015 Nov;62(11):2036-9. doi: 10.1002/pbc.25625. Epub 2015 Jul 14.
6
Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey.完全性γ干扰素受体1缺陷的造血干细胞移植：一项多机构调查
J Pediatr. 2004 Dec;145(6):806-12. doi: 10.1016/j.jpeds.2004.08.021.
7
Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.一名接种卡介苗的南非患者出现非典型分枝杆菌病和结核病，伴有常染色体显性干扰素-γ受体1缺乏症
J Clin Immunol. 2018 May;38(4):460-463. doi: 10.1007/s10875-018-0509-8. Epub 2018 May 18.
8
Generalized Pustular Psoriasis in Patients with Interferon Gamma (IFN-γ) Receptor Deficiency and Mycobacterial Infection.干扰素γ（IFN-γ）受体缺陷与分枝杆菌感染患者的泛发性脓疱型银屑病
J Clin Immunol. 2021 May;41(4):829-833. doi: 10.1007/s10875-020-00934-z. Epub 2021 Jan 27.
9
Haematopoietic Stem Cell Transplantation for DNA Ligase 1 Deficiency.用于DNA连接酶1缺乏症的造血干细胞移植
J Clin Immunol. 2021 Jan;41(1):238-242. doi: 10.1007/s10875-020-00871-x. Epub 2020 Oct 6.
10
Successful unrelated cord blood transplant for complete IFN-γ receptor 2 deficiency.成功进行无关供者脐血移植治疗完全性γ干扰素受体2缺陷症。
J Allergy Clin Immunol. 2016 Nov;138(5):1489-1491. doi: 10.1016/j.jaci.2016.06.017. Epub 2016 Jul 14.

引用本文的文献

1
A Novel Combination of Compound Heterozygous Variants in IFNGR1 Causing Complete IFNGR1 Deficiency.IFNGR1基因中导致完全IFNGR1缺陷的复合杂合变异体的新型组合。
J Clin Immunol. 2024 Apr 27;44(5):111. doi: 10.1007/s10875-024-01716-7.
2
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.重组 IFN-γ1b 治疗遗传性 IFN-γ 缺陷患者。
J Clin Immunol. 2024 Feb 16;44(3):62. doi: 10.1007/s10875-024-01661-5.
3
Manifestations of cutaneous mycobacterial infections in patients with inborn errors of IL-12/IL-23-IFNγ immunity.

本文引用的文献

1
Treatment of Nontuberculous Mycobacterial Pulmonary Disease: An Official ATS/ERS/ESCMID/IDSA Clinical Practice Guideline.非结核分枝杆菌肺病治疗：美国胸科学会/欧洲呼吸学会/欧洲临床微生物学和传染病学会/美国感染病学会临床实践指南
Clin Infect Dis. 2020 Aug 14;71(4):e1-e36. doi: 10.1093/cid/ciaa241.
2
Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis.埃马珠单抗治疗原发性噬血细胞性淋巴组织细胞增生症患儿。
N Engl J Med. 2020 May 7;382(19):1811-1822. doi: 10.1056/NEJMoa1911326.
3
Inherited human IFN-γ deficiency underlies mycobacterial disease.
先天 IL-12/IL-23-IFNγ 免疫缺陷患者皮肤分枝杆菌感染的表现。
Eur J Dermatol. 2022 Sep 7;32(4):495-504. doi: 10.1684/ejd.2022.4281.
4
Effective anti-mycobacterial treatment for BCG disease in patients with Mendelian Susceptibility to Mycobacterial Disease (MSMD): a case series.对孟德尔遗传易感性分枝杆菌病（MSMD）患者的卡介苗病进行有效的抗分枝杆菌治疗：病例系列研究。
Ann Clin Microbiol Antimicrob. 2022 Mar 1;21(1):8. doi: 10.1186/s12941-022-00500-y.
5
Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India.孟德尔易感性分枝杆菌病的临床和分子研究结果：来自印度的经验。
Front Immunol. 2021 Feb 25;12:631298. doi: 10.3389/fimmu.2021.631298. eCollection 2021.
遗传性人干扰素-γ 缺乏导致分枝杆菌病。
J Clin Invest. 2020 Jun 1;130(6):3158-3171. doi: 10.1172/JCI135460.
4
The monogenic basis of human tuberculosis.人类结核病的单基因基础。
Hum Genet. 2020 Jun;139(6-7):1001-1009. doi: 10.1007/s00439-020-02126-6. Epub 2020 Feb 13.
5
Mendelian susceptibility to mycobacterial disease: recent discoveries.孟德尔易感性对分枝杆菌病的影响：最新发现。
Hum Genet. 2020 Jun;139(6-7):993-1000. doi: 10.1007/s00439-020-02120-y. Epub 2020 Feb 5.
6
A Novel Splice Site Mutation in in Patients With Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial Diseases.在易患分枝杆菌病的原发性免疫缺陷患者中发现一个新型的 剪接位点突变。
Front Immunol. 2019 Aug 21;10:1964. doi: 10.3389/fimmu.2019.01964. eCollection 2019.
7
Interferon-γ Receptor 1 Deficiency Corrected by Umbilical Cord Blood Transplantation.脐带血移植纠正γ干扰素受体1缺乏症。
J Clin Immunol. 2019 Apr;39(3):257-260. doi: 10.1007/s10875-019-00621-8. Epub 2019 Apr 5.
8
Mendelian susceptibility to mycobacterial disease: 2014-2018 update.孟德尔遗传易感性对分枝杆菌病的影响：2014-2018 年更新。
Immunol Cell Biol. 2019 Apr;97(4):360-367. doi: 10.1111/imcb.12210. Epub 2018 Oct 25.
9
Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.人源 SPPL2a 缺陷中树突状细胞和辅助性 T 细胞之间抗分枝杆菌回路的破坏。
Nat Immunol. 2018 Sep;19(9):973-985. doi: 10.1038/s41590-018-0178-z. Epub 2018 Aug 20.
10
Hematopoietic stem cell gene therapy for IFNγR1 deficiency protects mice from mycobacterial infections.造血干细胞基因治疗 IFNγR1 缺陷可保护小鼠免受分枝杆菌感染。
Blood. 2018 Feb 1;131(5):533-545. doi: 10.1182/blood-2017-10-812859. Epub 2017 Dec 12.