• 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

WHIM Syndrome With a Novel CXCR4 Variant in a Korean Child.

作者信息

Shin Dong Woo, Park Si Nae, Kim Sung Min, Im Kyongok, Kim Jung Ah, Hong Kyung Taek, Choi Jung Yoon, Hong Che Ry, Park Kyung Duk, Shin Hee Young, Kang Hyoung Jin, Kim Hyun Kyung, Lee Dong Soon

机构信息

Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.

Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.

出版信息

Ann Lab Med. 2017 Sep;37(5):446-449. doi: 10.3343/alm.2017.37.5.446.

DOI:10.3343/alm.2017.37.5.446
PMID:28643496
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5500746/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbd7/5500746/df1f1c8a18a8/alm-37-446-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbd7/5500746/76abd101fc89/alm-37-446-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbd7/5500746/df1f1c8a18a8/alm-37-446-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbd7/5500746/76abd101fc89/alm-37-446-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbd7/5500746/df1f1c8a18a8/alm-37-446-g002.jpg

相似文献

1
WHIM Syndrome With a Novel CXCR4 Variant in a Korean Child.一名韩国儿童患伴有新型CXCR4变异体的WHIM综合征。
Ann Lab Med. 2017 Sep;37(5):446-449. doi: 10.3343/alm.2017.37.5.446.
2
On a WHIM.突发复发性感染伴粒细胞减少症（WHIM）
Blood. 2013 Feb 7;121(6):875. doi: 10.1182/blood-2012-03-420091.
3
Genetics on a WHIM.凭兴致了解遗传学。
Br J Haematol. 2014 Jan;164(1):15-23. doi: 10.1111/bjh.12574. Epub 2013 Sep 20.
4
Recurrent CXCR4 sequence variation in a girl with WHIM syndrome.一名患有WHIM综合征的女孩中CXCR4序列反复出现变异。
Eur J Haematol. 2007 Jan;78(1):86-8. doi: 10.1111/j.1600-0609.2006.00779.x. Epub 2006 Nov 6.
5
[Late diagnosis of WHIM sydrome].[WHIM综合征的延迟诊断]
Medicina (B Aires). 2018;78(2):123-126.
6
[Picture in clinical hematology no. 40: Infant case of neutropenia due to WHIM syndrome(myelokathexis)].[临床血液学图片第40号：一例因WHIM综合征（粒细胞缺乏症）导致中性粒细胞减少的婴儿病例]
Rinsho Ketsueki. 2009 Aug;50(8):591.
7
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.WHIM 综合征 66 例儿科和成年患者国际队列的疾病进展。
J Clin Immunol. 2022 Nov;42(8):1748-1765. doi: 10.1007/s10875-022-01312-7. Epub 2022 Aug 10.
8
Mechanisms of Sustained Neutrophilia in Patient WHIM-09, Cured of WHIM Syndrome by Chromothripsis.WHIM 综合征患者 WHIM-09 经 Chromothripsis 治疗后持续性中性粒细胞增多的机制。
J Clin Immunol. 2018 Jan;38(1):77-87. doi: 10.1007/s10875-017-0457-8. Epub 2017 Nov 24.
9
Neutropenia, hypogammaglobulinemia, and pneumonia: A case of WHIM syndrome.中性粒细胞减少症、低丙种球蛋白血症与肺炎：一例WHIM综合征病例
Pediatr Int. 2018 Mar;60(3):318-319. doi: 10.1111/ped.13488.
10
Expanding CXCR4 variant landscape in WHIM syndrome: integrating clinical and functional data for variant interpretation.扩大 WHIM 综合征中 CXCR4 变体谱：整合临床和功能数据进行变体解释。
Front Immunol. 2024 Jul 8;15:1411141. doi: 10.3389/fimmu.2024.1411141. eCollection 2024.

引用本文的文献

1
Expanding CXCR4 variant landscape in WHIM syndrome: integrating clinical and functional data for variant interpretation.扩大 WHIM 综合征中 CXCR4 变体谱：整合临床和功能数据进行变体解释。
Front Immunol. 2024 Jul 8;15:1411141. doi: 10.3389/fimmu.2024.1411141. eCollection 2024.
2
Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome.尽管携带 CXCR4Leu317fsX3 突变导致 WHIM 综合征的患者存在内化和β-arrestin 募集受损，但 G 蛋白信号转导减少。
JCI Insight. 2023 Mar 8;8(5):e145688. doi: 10.1172/jci.insight.145688.
3

本文引用的文献

1
Ibrutinib inhibits CD20 upregulation on CLL B cells mediated by the CXCR4/SDF-1 axis.依鲁替尼抑制由CXCR4/SDF-1轴介导的慢性淋巴细胞白血病B细胞上CD20的上调。
Blood. 2016 Sep 22;128(12):1609-13. doi: 10.1182/blood-2016-04-709519. Epub 2016 Aug 1.
2
CXCR4 signaling in health and disease.健康与疾病中的CXCR4信号传导
Immunol Lett. 2016 Sep;177:6-15. doi: 10.1016/j.imlet.2016.06.006. Epub 2016 Jun 27.
3
Diversity and Inter-Connections in the CXCR4 Chemokine Receptor/Ligand Family: Molecular Perspectives.CXCR4趋化因子受体/配体家族的多样性与相互联系：分子视角
Case Report: A Novel Mutation in a Chinese Child With Kawasaki Disease Causing WHIM Syndrome.
病例报告：中国一名川崎病合并 WHIM 综合征患儿的新型突变。
Front Immunol. 2022 Apr 13;13:857527. doi: 10.3389/fimmu.2022.857527. eCollection 2022.
4
WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure.WHIM 综合征：从发病机制到个体化医学和治疗。
J Clin Immunol. 2019 Aug;39(6):532-556. doi: 10.1007/s10875-019-00665-w. Epub 2019 Jul 16.
5
Adaptive Immunodeficiency in WHIM Syndrome.WHIM 综合征中的适应性免疫缺陷。
Int J Mol Sci. 2018 Dec 20;20(1):3. doi: 10.3390/ijms20010003.
Front Immunol. 2015 Aug 21;6:429. doi: 10.3389/fimmu.2015.00429. eCollection 2015.
4
The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis.华氏巨球蛋白血症的基因组特征为高度重现的 MYD88 和 WHIM 样 CXCR4 突变，以及与 B 细胞淋巴瘤发生相关的小型体细胞缺失。
Blood. 2014 Mar 13;123(11):1637-46. doi: 10.1182/blood-2013-09-525808. Epub 2013 Dec 23.
5
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.描述和结果的队列研究 8 例 WHIM 综合征患者从法国严重慢性中性粒细胞减少症登记处。
Orphanet J Rare Dis. 2012 Sep 25;7:71. doi: 10.1186/1750-1172-7-71.
6
Congenital neutropenia: diagnosis, molecular bases and patient management.先天性中性粒细胞减少症：诊断、分子基础和患者管理。
Orphanet J Rare Dis. 2011 May 19;6:26. doi: 10.1186/1750-1172-6-26.
7
WHIM syndrome: congenital immune deficiency disease.维姆综合征：先天性免疫缺陷病。
Curr Opin Hematol. 2009 Jan;16(1):20-6. doi: 10.1097/MOH.0b013e32831ac557.
8
MIF is a noncognate ligand of CXC chemokine receptors in inflammatory and atherogenic cell recruitment.巨噬细胞移动抑制因子（MIF）是炎症和致动脉粥样硬化细胞募集过程中CXC趋化因子受体的异源配体。
Nat Med. 2007 May;13(5):587-96. doi: 10.1038/nm1567. Epub 2007 Apr 15.
9
WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12.伴有不同基因异常的WHIM综合征是由CXCR4对CXCL12脱敏受损所致。
Blood. 2005 Mar 15;105(6):2449-57. doi: 10.1182/blood-2004-06-2289. Epub 2004 Nov 9.