• 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

Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect.

作者信息

Vignesh Pandiarajan, Sharma Madhubala, Pilania Rakesh Kumar, Shandilya Jitendra Kumar, Kaur Anit, Goel Shubham, Kaur Anupriya, Suri Deepti, Rawat Amit, Dalal Ashwin, Sarma Asodu Sandeep, Singh Surjit

机构信息

Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Medical Genetics Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.

出版信息

J Clin Immunol. 2019 Aug;39(6):611-615. doi: 10.1007/s10875-019-00661-0. Epub 2019 Jul 23.

DOI:10.1007/s10875-019-00661-0
PMID:31338742
Abstract
摘要

相似文献

1
Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect.慢性肉芽肿病的多样面貌：一个具有新型CYBB缺陷的印度家族的情况
J Clin Immunol. 2019 Aug;39(6):611-615. doi: 10.1007/s10875-019-00661-0. Epub 2019 Jul 23.
2
Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB.扩大慢性肉芽肿病的临床表型：一名CYBB基因新发突变的女性患者
J Clin Immunol. 2021 Jan;41(1):224-226. doi: 10.1007/s10875-020-00877-5. Epub 2020 Oct 1.
3
A Novel CYBB Variant Causing X-Linked Chronic Granulomatous Disease in a Patient with Empyema.一种导致脓胸患者发生X连锁慢性肉芽肿病的新型CYBB变异体。
J Clin Immunol. 2021 Jan;41(1):266-269. doi: 10.1007/s10875-020-00897-1. Epub 2020 Oct 22.
4
Identification of IL2RG and CYBB mutations in two Chinese primary immunodeficiency patients by whole-exome sequencing.通过全外显子组测序鉴定两名中国原发性免疫缺陷患者中的IL2RG和CYBB突变。
Immunol Invest. 2018 Apr;47(3):221-228. doi: 10.1080/08820139.2017.1371186. Epub 2018 Feb 1.
5
Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients.慢性肉芽肿病（CGD）分子诊断方法：来自 90 例印度患者大型队列的经验。
J Clin Immunol. 2018 Nov;38(8):898-916. doi: 10.1007/s10875-018-0567-y. Epub 2018 Nov 23.
6
Male X-chromosome mosaicism leading to carrier phenotype and inheritance of chronic granulomatous disease.
J Allergy Clin Immunol Pract. 2018 Sep-Oct;6(5):1775-1777.e1. doi: 10.1016/j.jaip.2018.01.017. Epub 2018 Feb 2.
7
The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.三种CYBA变体（rs4673、rs1049254和rs1049255）是良性的：来自慢性肉芽肿病患者的新证据。
BMC Med Genet. 2017 Nov 13;18(1):127. doi: 10.1186/s12881-017-0492-6.
8
A novel mutation in CYBB gene in a patient with chronic colitis and recurrent pneumonia due to X-linked chronic granulomatous disease.一名患有X连锁慢性肉芽肿病所致慢性结肠炎和复发性肺炎患者的CYBB基因新突变。
Pediatr Blood Cancer. 2018 Dec;65(12):e27382. doi: 10.1002/pbc.27382. Epub 2018 Aug 9.
9
Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease.10个患有X连锁慢性肉芽肿病的伊朗家庭中CYBB基因4种新突变的特征分析。
J Pediatr Hematol Oncol. 2018 Jul;40(5):e268-e272. doi: 10.1097/MPH.0000000000001189.
10
DHR histogram pattern in chronic granulomatous disease.慢性肉芽肿病中的二氢罗丹明直方图模式
Asian Pac J Allergy Immunol. 2008 Jun-Sep;26(2-3):183; author reply 183-4.

引用本文的文献

1
Tuberculosis and Bacillus Calmette-Guérin Disease in Patients with Chronic Granulomatous Disease: an Experience from a Tertiary Care Center in North India.慢性肉芽肿病患者的结核病和卡介苗病：来自印度北部一家三级护理中心的经验。
J Clin Immunol. 2023 Nov;43(8):2049-2061. doi: 10.1007/s10875-023-01581-w. Epub 2023 Sep 18.
2
Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India.印度 236 例慢性肉芽肿病患者的临床、免疫学和分子特征：一项多中心研究。
Front Immunol. 2021 Feb 25;12:625320. doi: 10.3389/fimmu.2021.625320. eCollection 2021.

本文引用的文献

1
X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability.X 连锁慢性肉芽肿病携带者：疾病、莱昂化和稳定性。
J Allergy Clin Immunol. 2018 Jan;141(1):365-371. doi: 10.1016/j.jaci.2017.04.035. Epub 2017 May 18.
2
Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India.慢性肉芽肿病的感染谱：来自印度北部一家三级医疗中心的23年经验
J Clin Immunol. 2017 Apr;37(3):319-328. doi: 10.1007/s10875-017-0382-x. Epub 2017 Mar 22.
3
Pioglitazone as a novel therapeutic approach in chronic granulomatous disease.
吡格列酮作为慢性肉芽肿病的一种新型治疗方法。
J Allergy Clin Immunol. 2016 Jun;137(6):1913-1915.e2. doi: 10.1016/j.jaci.2016.01.033. Epub 2016 Apr 4.
4
Chronic granulomatous disease.慢性肉芽肿病
Br Med Bull. 2016 Jun;118(1):50-63. doi: 10.1093/bmb/ldw009. Epub 2016 Mar 16.
5
Pioglitazone restores phagocyte mitochondrial oxidants and bactericidal capacity in chronic granulomatous disease.吡格列酮可恢复慢性肉芽肿病中吞噬细胞的线粒体氧化剂及杀菌能力。
J Allergy Clin Immunol. 2015 Feb;135(2):517-527.e12. doi: 10.1016/j.jaci.2014.10.034. Epub 2014 Dec 10.
6
Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus.系统性红斑狼疮国际协作临床分类标准的推导与验证
Arthritis Rheum. 2012 Aug;64(8):2677-86. doi: 10.1002/art.34473.
7
Hematologically important mutations: X-linked chronic granulomatous disease (third update).血液学重要突变：X 连锁慢性肉芽肿病（第三次更新）。
Blood Cells Mol Dis. 2010 Oct 15;45(3):246-65. doi: 10.1016/j.bcmd.2010.07.012. Epub 2010 Aug 21.
8
Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review.朱弗雷-冢原综合征：X 连锁显性遗传的证据及综述。
Am J Med Genet A. 2010 Aug;152A(8):2057-60. doi: 10.1002/ajmg.a.33505.
9
A review of trisomy X (47,XXX).三倍体 X 综合征（47,XXX）综述。
Orphanet J Rare Dis. 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8.
10
The origin of 47,XXY and 47,XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination.47,XXY和47,XXX非整倍体的起源：异质性机制及异常重组的作用
Hum Mol Genet. 1994 Aug;3(8):1365-71. doi: 10.1093/hmg/3.8.1365.