• 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

Disseminated Mycobacterial Disease in a Patient with 22q11.2 Deletion Syndrome: Case Report and Review of the Literature.

作者信息

Hoyos-Bachiloglu Rodrigo, Gallo Silvanna, Vizcaya Cecilia, Zuñiga Pamela, Valbuena José R, Casanova Jean Laurent, Bustamante Jacinta, Borzutzky Arturo

机构信息

Department of Pediatric Infectious Diseases and Immunology, School of Medicine, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362 octavo piso, 8330077, Santiago, Chile.

Pediatric Hematology and Oncology Section, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

出版信息

J Clin Immunol. 2019 Oct;39(7):743-746. doi: 10.1007/s10875-019-00678-5. Epub 2019 Aug 5.

DOI:10.1007/s10875-019-00678-5
PMID:31385124
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7159191/
Abstract
摘要

相似文献

1
Disseminated Mycobacterial Disease in a Patient with 22q11.2 Deletion Syndrome: Case Report and Review of the Literature.一名患有22q11.2缺失综合征患者的播散性分枝杆菌病：病例报告及文献复习
J Clin Immunol. 2019 Oct;39(7):743-746. doi: 10.1007/s10875-019-00678-5. Epub 2019 Aug 5.
2
[Graves disease and IgA deficiency as manifestations of 22q11.2 deletion syndrome].[格雷夫斯病和IgA缺乏症作为22q11.2缺失综合征的表现]
Arq Bras Endocrinol Metabol. 2010 Aug;54(6):572-7. doi: 10.1590/s0004-27302010000600011.
3
Olfactory deficits in deletion syndrome 22q11.2.
Schizophr Res. 2011 Jul;129(2-3):220-1. doi: 10.1016/j.schres.2010.12.015. Epub 2011 Feb 1.
4
Value of bone marrow biopsy in children with suspected disseminated mycobacterial disease.骨髓活检在疑似播散性分枝杆菌病患儿中的价值。
Int J Tuberc Lung Dis. 2011 Feb;15(2):200-4, i.
5
A patient with 22q11.2 deletion syndrome: case report.一名患有22q11.2缺失综合征的患者：病例报告。
J Clin Res Pediatr Endocrinol. 2009;1(3):151-4. doi: 10.4008/jcrpe.v1i3.46. Epub 2009 Feb 6.
6
[Scoliosis in children with chromosome 22q11.2 deletion syndrome].[22q11.2缺失综合征患儿的脊柱侧弯]
Ned Tijdschr Geneeskd. 2012;156(4):A4298.
7
Disseminated Bacille Calmette-Guérin disease in immunocompetent adult patients.免疫功能正常的成年患者中的播散性卡介苗病
Braz J Infect Dis. 2016 Jul-Aug;20(4):408-9. doi: 10.1016/j.bjid.2016.03.009. Epub 2016 Jun 4.
8
Disseminated bacillus Calmette-Guérin infection and immunodeficiency.播散性卡介苗感染与免疫缺陷
Emerg Infect Dis. 2007 May;13(5):799-801. doi: 10.3201/eid1305.060865.
9
[22q11.2 deletion syndrome diagnosed in an adult male].[一名成年男性被诊断出患有22q11.2缺失综合征]
Ned Tijdschr Geneeskd. 2011;155(40):A3644.
10
Chromosome 22q11.2 microdeletion syndrome.
Neonatal Netw. 2011 Sep-Oct;30(5):304-11. doi: 10.1891/0730-0832.30.5.304.

引用本文的文献

1
Disseminated Mycobacterium abscessus Infection in a Three-Year-Old Girl With CHARGE Syndrome: A Case Report and Literature Review.一名患有CHARGE综合征的三岁女童的播散性脓肿分枝杆菌感染：病例报告及文献综述
Cureus. 2025 Jul 19;17(7):e88327. doi: 10.7759/cureus.88327. eCollection 2025 Jul.
2
Case Report: Nontuberculous mycobacterial infections in children with complete DiGeorge anomaly.病例报告：完全 DiGeorge 异常儿童中的非结核分枝杆菌感染。
Front Immunol. 2023 Feb 13;14:1078976. doi: 10.3389/fimmu.2023.1078976. eCollection 2023.

本文引用的文献

1
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant.人类中一种常见的错义变异纯合子导致结核病和 IL-23 依赖的 IFN-γ 免疫受损。
Sci Immunol. 2018 Dec 21;3(30). doi: 10.1126/sciimmunol.aau8714.
2
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.人类对分枝杆菌的 IFN-γ 免疫受 IL-12 和 IL-23 的共同调控。
Sci Immunol. 2018 Dec 21;3(30). doi: 10.1126/sciimmunol.aau6759.
3
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.
4
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.
5
Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.实验室评估 IFN-γ 回路在孟德尔易感性分枝杆菌病分子诊断中的作用。
Crit Rev Clin Lab Sci. 2018 May;55(3):184-204. doi: 10.1080/10408363.2018.1444580. Epub 2018 Mar 4.
6
Thymus transplantation for complete DiGeorge syndrome: European experience.完全性DiGeorge综合征的胸腺移植：欧洲经验
J Allergy Clin Immunol. 2017 Dec;140(6):1660-1670.e16. doi: 10.1016/j.jaci.2017.03.020. Epub 2017 Apr 8.
7
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.在孟德尔疾病队列中从外显子组测序数据检测纯合和半合子拷贝数变异
Nucleic Acids Res. 2017 Feb 28;45(4):1633-1648. doi: 10.1093/nar/gkw1237.
8
IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.免疫缺陷。双等位基因RORC突变的人类对念珠菌和分枝杆菌的免疫受损。
Science. 2015 Aug 7;349(6248):606-613. doi: 10.1126/science.aaa4282. Epub 2015 Jul 9.
9
Disseminated Mycobacterium kansasii disease in complete DiGeorge syndrome.完全性DiGeorge综合征中的播散性堪萨斯分枝杆菌病
J Clin Immunol. 2015 Jul;35(5):435-8. doi: 10.1007/s10875-015-0171-3. Epub 2015 Jun 7.
10
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.孟德尔式分枝杆菌病易感性：IFN-γ免疫先天性缺陷的遗传、免疫和临床特征
Semin Immunol. 2014 Dec;26(6):454-70. doi: 10.1016/j.smim.2014.09.008. Epub 2014 Oct 26.