• 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

A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency.

作者信息

Atschekzei Faranaz, Jacobs Roland, Wetzke Martin, Sogkas Georgios, Schröder Claudia, Ahrenstorf Gerrit, Dhingra Akshay, Ott Hagen, Baumann Ulrich, Schmidt Reinhold Ernst

机构信息

Department for Clinical Immunology and Rheumatology, Hannover Medical School, Carl-Neuberg-Str.1, 30623, Hannover, Germany.

Department of Pediatric Pulmonology, Allergy and Neonatology, Hannover Medical School, Hannover, Germany.

出版信息

J Clin Immunol. 2019 Apr;39(3):274-276. doi: 10.1007/s10875-019-00628-1. Epub 2019 Apr 18.

DOI:10.1007/s10875-019-00628-1
PMID:31001706
Abstract
摘要

相似文献

1
A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency.一种导致联合免疫缺陷的新型CARMIL2突变，表现为皮炎、真菌和病毒皮肤感染以及选择性抗体缺陷。
J Clin Immunol. 2019 Apr;39(3):274-276. doi: 10.1007/s10875-019-00628-1. Epub 2019 Apr 18.
2
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers.与CARMIL2相关的联合免疫缺陷的复杂黏膜皮肤表现：功能失调的上皮屏障的一种新表现
Acta Derm Venereol. 2020 Jan 23;100(1):adv00038. doi: 10.2340/00015555-3370.
3
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency.新型 CARMIL2 突变与临床表现多样的皮肤炎、感染和联合免疫缺陷症相关。
Front Immunol. 2018 Feb 9;9:203. doi: 10.3389/fimmu.2018.00203. eCollection 2018.
4
Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations.同时存在新型 CARMIL2 和 PLEC1 功能丧失突变导致严重皮肤疾病的严重免疫缺陷解释。
Clin Immunol. 2019 Nov;208:108228. doi: 10.1016/j.clim.2019.06.004. Epub 2019 Jun 10.
5
A human immunodeficiency syndrome caused by mutations in CARMIL2.由 CARMIL2 突变引起的人类免疫缺陷综合征。
Nat Commun. 2017 Jan 23;8:14209. doi: 10.1038/ncomms14209.
6
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.CARMIL2 缺陷导致的联合免疫缺陷的演变和长期结局。
Allergy. 2022 Mar;77(3):1004-1019. doi: 10.1111/all.15010. Epub 2021 Jul 30.
7
CARMIL2-related immunodeficiency manifesting with photosensitivity.与CARMIL2相关的免疫缺陷伴光敏性表现。
Pediatr Dermatol. 2020 Jul;37(4):695-697. doi: 10.1111/pde.14173. Epub 2020 Apr 27.
8
Viruses and immunodeficiency diseases.病毒与免疫缺陷疾病。
Prog Brain Res. 1983;59:81-90. doi: 10.1016/S0079-6123(08)63853-4.
9
An immunodeficiency disease with RAG mutations and granulomas.一种伴有RAG突变和肉芽肿的免疫缺陷病。
N Engl J Med. 2008 May 8;358(19):2030-8. doi: 10.1056/NEJMoa073966.
10
Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report.新型CARMIL2（RLTPR）突变伴高IgE和嗜酸性粒细胞增多症：一例报告
Endocr Metab Immune Disord Drug Targets. 2024;24(5):596-605. doi: 10.2174/0118715303263327230922043929.

引用本文的文献

1
Consequences of COVID-19 on Adipose Tissue Signatures.新冠病毒病对脂肪组织特征的影响
Int J Mol Sci. 2024 Mar 2;25(5):2908. doi: 10.3390/ijms25052908.
2
Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.单基因病因与持续性人乳头瘤病毒感染：系统综述。
Genet Med. 2024 Feb;26(2):101028. doi: 10.1016/j.gim.2023.101028. Epub 2023 Nov 14.
3
Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report.新型CARMIL2（RLTPR）突变伴高IgE和嗜酸性粒细胞增多症：一例报告

本文引用的文献

1
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency.新型 CARMIL2 突变与临床表现多样的皮肤炎、感染和联合免疫缺陷症相关。
Front Immunol. 2018 Feb 9;9:203. doi: 10.3389/fimmu.2018.00203. eCollection 2018.
2
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.国际免疫学联合会：2017 年原发性免疫缺陷疾病委员会关于免疫先天错误的报告。
J Clin Immunol. 2018 Jan;38(1):96-128. doi: 10.1007/s10875-017-0464-9. Epub 2017 Dec 11.
3
A human immunodeficiency syndrome caused by mutations in CARMIL2.
Endocr Metab Immune Disord Drug Targets. 2024;24(5):596-605. doi: 10.2174/0118715303263327230922043929.
4
Atopic manifestations of inborn errors of immunity.先天性免疫缺陷的特应性表现。
Curr Opin Allergy Clin Immunol. 2023 Dec 1;23(6):478-490. doi: 10.1097/ACI.0000000000000943. Epub 2023 Sep 26.
5
Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.论菌丝体与人类：人类对真菌疾病的内在易感性
Pathogens. 2023 Mar 14;12(3):456. doi: 10.3390/pathogens12030456.
6
Case report: Primary immunodeficiency due to a novel mutation in CARMIL2 and its response to combined immunomodulatory therapy.病例报告：由于CARMIL2基因的一种新突变导致的原发性免疫缺陷及其对联合免疫调节治疗的反应。
Front Pediatr. 2023 Jan 16;10:1042302. doi: 10.3389/fped.2022.1042302. eCollection 2022.
7
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.人类 CARMIL2 缺乏症的免疫和临床表型比 CD28 缺乏症更为广泛。
J Exp Med. 2023 Feb 6;220(2). doi: 10.1084/jem.20220275. Epub 2022 Dec 14.
8
The Pathogenesis of Giant Condyloma Acuminatum (Buschke-Lowenstein Tumor): An Overview.巨大型尖锐湿疣（Buschke-Lowenstein 肿瘤）的发病机制：概述。
Int J Mol Sci. 2022 Apr 20;23(9):4547. doi: 10.3390/ijms23094547.
9
Epstein-Barr Virus in Inborn Immunodeficiency-More Than Infection.先天性免疫缺陷中的爱泼斯坦-巴尔病毒——不仅仅是感染
Cancers (Basel). 2021 Sep 23;13(19):4752. doi: 10.3390/cancers13194752.
10
Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency.散发性原发性免疫缺陷中靶向下一代测序的诊断收益和治疗后果。
Int Arch Allergy Immunol. 2022;183(3):337-349. doi: 10.1159/000519199. Epub 2021 Oct 7.
由 CARMIL2 突变引起的人类免疫缺陷综合征。
Nat Commun. 2017 Jan 23;8:14209. doi: 10.1038/ncomms14209.
4
A potential founder variant in in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.在三个患有疣、传染性软疣和T细胞功能障碍的挪威家庭中发现一种潜在的奠基者变异。
Mol Genet Genomic Med. 2016 Sep 17;4(6):604-616. doi: 10.1002/mgg3.237. eCollection 2016 Nov.
5
Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.双等位基因RLTPR突变的人类中T细胞和B细胞内在的双重缺陷。
J Exp Med. 2016 Oct 17;213(11):2413-2435. doi: 10.1084/jem.20160576. Epub 2016 Sep 19.
6
The scaffolding function of the RLTPR protein explains its essential role for CD28 co-stimulation in mouse and human T cells.RLTPR蛋白的支架功能解释了其在小鼠和人类T细胞中对CD28共刺激的重要作用。
J Exp Med. 2016 Oct 17;213(11):2437-2457. doi: 10.1084/jem.20160579. Epub 2016 Sep 19.
7
Primary immunodeficiencies.原发性免疫缺陷病。
J Allergy Clin Immunol. 2010 Feb;125(2 Suppl 2):S182-94. doi: 10.1016/j.jaci.2009.07.053. Epub 2009 Dec 29.