一种导致小儿期发病的常见变异型免疫缺陷病并伴有复发性自身免疫性血细胞减少症和严重肠病的新生单等位基因CTLA-4缺失。 - Suppr | 超能文献

A de novo monoallelic CTLA-4 deletion causing pediatric onset CVID with recurrent autoimmune cytopenias and severe enteropathy.

作者信息

Lougaris Vassilios, Baronio Manuela, Gazzurelli Luisa, Lorenzini Tiziana, Fuoti Maurizio, Moratto Daniele, Bozzola Anna, Ricci Chiara, Bondioni Maria Pia, Ravelli Alberto, Villanacci Vincenzo, Plebani Alessandro

机构信息

Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.

Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.

出版信息

Clin Immunol. 2018 Dec;197:186-188. doi: 10.1016/j.clim.2018.10.007. Epub 2018 Oct 13.

DOI:10.1016/j.clim.2018.10.007

Abstract

摘要

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

A de novo monoallelic CTLA-4 deletion causing pediatric onset CVID with recurrent autoimmune cytopenias and severe enteropathy.一种导致小儿期发病的常见变异型免疫缺陷病并伴有复发性自身免疫性血细胞减少症和严重肠病的新生单等位基因CTLA-4缺失。

Clin Immunol. 2018 Dec;197:186-188. doi: 10.1016/j.clim.2018.10.007. Epub 2018 Oct 13.

2

Presence of Idiopathic Thrombocytopenic Purpura and autoimmune hemolytic anemia in the patients with common variable immunodeficiency.普通可变免疫缺陷患者中特发性血小板减少性紫癜和自身免疫性溶血性贫血的存在情况。

Iran J Allergy Asthma Immunol. 2008 Sep;7(3):169-75.

3

[Treatment of ITP and AIHA in CVID: A systematic literature review].[普通变异型免疫缺陷病中免疫性血小板减少症和自身免疫性溶血性贫血的治疗：一项系统文献综述]

Rev Med Interne. 2019 Aug;40(8):491-500. doi: 10.1016/j.revmed.2019.02.006. Epub 2019 May 14.

4

Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID).常见可变免疫缺陷（CVID）中自身免疫性血液疾病的治疗与结局

J Autoimmun. 2005 Aug;25(1):57-62. doi: 10.1016/j.jaut.2005.04.006.

5

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.携带CTLA4突变的人类常染色体显性免疫失调综合征

Nat Med. 2014 Dec;20(12):1410-1416. doi: 10.1038/nm.3746. Epub 2014 Oct 20.

6

[Primary immunodeficiencies presenting with autoimmune cytopenias in adults].[成人中表现为自身免疫性血细胞减少症的原发性免疫缺陷病]

Rev Med Interne. 2013 Mar;34(3):148-53. doi: 10.1016/j.revmed.2012.05.007. Epub 2012 Jun 15.

7

Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation.成功进行 LPS 反应性米色锚定蛋白（LRBA）基因突变患者的造血干细胞移植。

J Clin Immunol. 2016 Jul;36(5):480-9. doi: 10.1007/s10875-016-0289-y. Epub 2016 May 4.

8

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.儿童期起病 Evans 综合征：表现多样，常与单基因病相关，包括 LRBA 和 CTLA4 突变。

Clin Immunol. 2018 Mar;188:52-57. doi: 10.1016/j.clim.2017.12.009. Epub 2018 Jan 10.

9

Autoimmune hemolytic anemia and common variable immunodeficiency: a case-control study of 18 patients.自身免疫性溶血性贫血与常见可变免疫缺陷：18例患者的病例对照研究

Medicine (Baltimore). 2008 May;87(3):177-184. doi: 10.1097/MD.0b013e31817a90ba.

10

Inflammatory and autoimmune complications of common variable immune deficiency.普通可变免疫缺陷的炎症和自身免疫并发症

Autoimmun Rev. 2006 Feb;5(2):156-9. doi: 10.1016/j.autrev.2005.10.002. Epub 2005 Nov 2.

引用本文的文献

1

The Burden of Non-Infectious Organ-Specific Immunopathology in Pediatric Common Variable Immunodeficiency.儿童常见变异型免疫缺陷中非感染性器官特异性免疫病理学负担

Int J Mol Sci. 2025 Mar 15;26(6):2653. doi: 10.3390/ijms26062653.

2

Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency.儿科常见变应性免疫缺陷的免疫遗传景观。

Int J Mol Sci. 2024 Sep 17;25(18):9999. doi: 10.3390/ijms25189999.

3

Identification of novel NFKB1 and ICOS frameshift variants in patients with CVID.鉴定 CVID 患者中新型 NFKB1 和 ICOS 移码变异。

Clin Exp Immunol. 2023 Mar 8;211(1):68-77. doi: 10.1093/cei/uxac121.

4

A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly.CVID 相关变异的纤毛发生蛋白 CCDC28B 破坏免疫突触组装。

Cell Death Differ. 2022 Jan;29(1):65-81. doi: 10.1038/s41418-021-00837-5. Epub 2021 Jul 22.

5

Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients.活化磷脂酰肌醇3激酶δ综合征1：来自意大利一组患者的临床和免疫学数据。

J Clin Med. 2020 Oct 17;9(10):3335. doi: 10.3390/jcm9103335.