• 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

相似文献

1
X-linked immunodeficiency with hyper-IgM (XHIM).伴有高IgM的X连锁免疫缺陷症（XHIM）。
Clin Exp Immunol. 2000 Jun;120(3):399-405. doi: 10.1046/j.1365-2249.2000.01142.x.
2
Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome.
Immunodeficiency. 1993;4(1-4):225-9.
3
Spectrum of the X-linked hyper IgM syndrome.
J Pediatr. 1998 Mar;132(3 Pt 1):561-2. doi: 10.1016/s0022-3476(98)70048-4.
4
X-linked immunodeficiencies.
Curr Opin Genet Dev. 1994 Jun;4(3):401-6. doi: 10.1016/0959-437x(94)90028-0.
5
Molecular pathology of X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1).伴正常或升高IgM的X连锁免疫球蛋白缺陷（HIGMX-1）的分子病理学
Immunol Rev. 1994 Apr;138:87-104. doi: 10.1111/j.1600-065x.1994.tb00848.x.
6
Defective antigen-induced lymphocyte proliferation in the X-linked hyper-IgM syndrome.X连锁高IgM综合征中抗原诱导的淋巴细胞增殖缺陷。
J Pediatr. 1997 Jul;131(1 Pt 1):147-50. doi: 10.1016/s0022-3476(97)70139-2.
7
Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM.患有X连锁高IgM免疫缺陷的男孩的胆管病以及胰腺、肝脏和胆道树肿瘤
J Immunol. 1997 Jan 15;158(2):977-83.
8
Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages.
Hum Genet. 1991 Dec;88(2):130-4. doi: 10.1007/BF00206059.
9
Eczematous skin lesions in X-linked immunodeficiency with hyper-IgM.
Curr Probl Dermatol. 1989;18:60-5. doi: 10.1159/000416839.
10
Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M.
Clin Genet. 1995 Jul;48(1):46-8. doi: 10.1111/j.1399-0004.1995.tb04053.x.

引用本文的文献

1
Hyperimmunoglobulin syndromes: A review of HIGM, HIES, and HIDS.高免疫球蛋白综合征：高IgM综合征、高IgE综合征和高IgD综合征综述。
J Transl Autoimmun. 2025 Jun 27;11:100297. doi: 10.1016/j.jtauto.2025.100297. eCollection 2025 Dec.
2
The RNA Binding Protein Bcas2 is Required for Antibody Class Switch in Activated-B Cells.RNA结合蛋白Bcas2是活化B细胞中抗体类别转换所必需的。
Exploration (Beijing). 2025 Feb 16;5(3):270015. doi: 10.1002/EXP.70015. eCollection 2025 Jun.
3
A novel CD40LG mutation causing X‑linked hyper-IgM syndrome.一种导致X连锁高IgM综合征的新型CD40LG突变。
Glob Med Genet. 2024 Nov 20;12(3):100007. doi: 10.1016/j.gmg.2024.100007. eCollection 2025 Sep.
4
DNA-PK inhibition enhances gene editing efficiency in HSPCs for CRISPR-based treatment of X-linked hyper IgM syndrome.DNA依赖性蛋白激酶（DNA-PK）抑制可提高造血干细胞（HSPCs）中的基因编辑效率，用于基于CRISPR的X连锁高免疫球蛋白M综合征治疗。
Mol Ther Methods Clin Dev. 2024 Jul 27;32(3):101297. doi: 10.1016/j.omtm.2024.101297. eCollection 2024 Sep 12.
5
Prolonged pediatric intensive care unit (PICU) admission, challenges in diagnosis and treatment in a child with hyper IgM syndrome in a tertiary hospital in Tanzania: a case report.坦桑尼亚一家三级医院中，小儿重症监护病房（PICU）长期收治一名患有高IgM综合征儿童的诊疗挑战：病例报告
Pan Afr Med J. 2024 Oct 11;49:33. doi: 10.11604/pamj.2024.49.33.42418. eCollection 2024.
6
A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.两个中国家系中 X 连锁高免疫球蛋白 M 综合征的新型 CD40L 半合突变和高免疫球蛋白 E 综合征的 DOCK8 复合杂合突变。
Immunogenetics. 2024 Jun;76(3):165-173. doi: 10.1007/s00251-024-01340-0. Epub 2024 Apr 8.
7
Precise somatic genome editing for treatment of inborn errors of immunity.精确的体细胞基因组编辑治疗先天性免疫缺陷。
Front Immunol. 2022 Aug 26;13:960348. doi: 10.3389/fimmu.2022.960348. eCollection 2022.
8
Autoimmunity in Primary Immunodeficiency Disorders: An Updated Review on Pathogenic and Clinical Implications.原发性免疫缺陷病中的自身免疫：关于发病机制和临床意义的最新综述
J Clin Med. 2021 Oct 15;10(20):4729. doi: 10.3390/jcm10204729.
9
CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complication.越南 X 连锁高免疫球蛋白 M 综合征患者的 CD40LG 突变；灾难性抗磷脂综合征作为一种新的并发症。
Mol Genet Genomic Med. 2021 Aug;9(8):e1732. doi: 10.1002/mgg3.1732. Epub 2021 Jun 10.
10
Disseminated infection in an infant with CD40L deficiency.一名患有CD40L缺乏症的婴儿发生播散性感染。
IDCases. 2021 Apr 7;24:e01115. doi: 10.1016/j.idcr.2021.e01115. eCollection 2021.

本文引用的文献

1
Classification of mutations in the human CD40 ligand, gp39, that are associated with X-linked hyper IgM syndrome.与X连锁高IgM综合征相关的人类CD40配体gp39突变的分类。
Protein Sci. 1996 Mar;5(3):531-4. doi: 10.1002/pro.5560050316.
2
[A new biological disorder: agammaglobulinemia with beta2-macroglobulinemia (a case)].[一种新的生物紊乱：伴有β2-巨球蛋白血症的无丙种球蛋白血症（一例）]
Bull Mem Soc Med Hop Paris. 1960;76:519-23.
3
Antibody deficiency syndrome associated with beta-2 macroglobulinemia.与β-2微球蛋白血症相关的抗体缺陷综合征。
J Pediatr. 1962 Dec;61:831-42. doi: 10.1016/s0022-3476(62)80193-0.
4
Recurrent bacterial infections and dysgamma-globulinemia: deficiency of 7S gamma-globulins in the presence of elevated 19S gamma-globulins. Report of two cases.复发性细菌感染与γ-球蛋白异常血症：19Sγ-球蛋白升高时7Sγ-球蛋白缺乏。两例报告。
Pediatrics. 1961 Aug;28:182-95.
5
Crystallographic analysis of CD40 recognition and signaling by human TRAF2.人TRAF2对CD40识别与信号传导的晶体学分析。
Proc Natl Acad Sci U S A. 1999 Jul 20;96(15):8408-13. doi: 10.1073/pnas.96.15.8408.
6
Liver and bile duct pathology following Cryptosporidium parvum infection of immunodeficient mice.免疫缺陷小鼠感染微小隐孢子虫后的肝脏和胆管病理学
Hepatology. 1999 Jul;30(1):27-35. doi: 10.1002/hep.510300138.
7
CD40-CD40 ligand interaction is central to cell-mediated immunity against Toxoplasma gondii: patients with hyper IgM syndrome have a defective type 1 immune response that can be restored by soluble CD40 ligand trimer.CD40与CD40配体的相互作用对于针对刚地弓形虫的细胞介导免疫至关重要：高IgM综合征患者的1型免疫反应存在缺陷，而可溶性CD40配体三聚体可使其恢复。
J Immunol. 1999 Jun 1;162(11):6690-700.
8
Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome.肠道病毒性脑膜脑炎作为X连锁高IgM综合征的一种并发症。
J Pediatr. 1999 May;134(5):584-8. doi: 10.1016/s0022-3476(99)70245-3.
9
Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome.X连锁高IgM综合征中T细胞效应功能及胸腺后成熟缺陷
J Clin Invest. 1999 Apr;103(8):1151-8. doi: 10.1172/JCI5891.
10
CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization.由于X染色体失活，X连锁高IgM综合征女性携带者中CD40配体表达缺陷。
Eur J Immunol. 1999 Jan;29(1):367-73. doi: 10.1002/(SICI)1521-4141(199901)29:01<367::AID-IMMU367>3.0.CO;2-4.

X-linked immunodeficiency with hyper-IgM (XHIM).

作者信息

Notarangelo L D, Hayward A R

机构信息

Istituto di Medicina Molecolare 'Angelo Nocivelli', Department of Paediatrics, University of Brescia, Spedali Civili, Brescia, Italy.

出版信息

Clin Exp Immunol. 2000 Jun;120(3):399-405. doi: 10.1046/j.1365-2249.2000.01142.x.

DOI:10.1046/j.1365-2249.2000.01142.x
PMID:10844515
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1905564/
Abstract
摘要