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Opinion: the evolving understanding of polygenic common variable immunodeficiency-like disorders.

作者信息

Ameratunga Rohan, Leung Euphemia Yee, Longhurst Hilary J, Lehnert Klaus, Woon See-Tarn

机构信息

Department of Clinical Immunology, Auckland Hospital, Auckland, New Zealand.

Department of Virology and Immunology, Auckland Hospital, Auckland, New Zealand.

出版信息

Front Immunol. 2025 Aug 28;16:1618482. doi: 10.3389/fimmu.2025.1618482. eCollection 2025.

DOI:10.3389/fimmu.2025.1618482
PMID:40948799
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12423029/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bad4/12423029/b5a239546881/fimmu-16-1618482-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bad4/12423029/b5a239546881/fimmu-16-1618482-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bad4/12423029/b5a239546881/fimmu-16-1618482-g001.jpg

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本文引用的文献

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2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.2q33 缺失与综合征型和非综合征型 CTLA4 缺陷相关。
J Clin Immunol. 2024 Nov 23;45(1):46. doi: 10.1007/s10875-024-01831-5.
2
The Rapidly Expanding Genetic Spectrum of Common Variable Immunodeficiency-Like Disorders.常见可变免疫缺陷样疾病的遗传谱迅速扩大。
J Allergy Clin Immunol Pract. 2023 Jun;11(6):1646-1664. doi: 10.1016/j.jaip.2023.01.048. Epub 2023 Feb 14.
3
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
人类先天性免疫缺陷：国际免疫学联盟专家委员会 2022 年更新的分类。
J Clin Immunol. 2022 Oct;42(7):1473-1507. doi: 10.1007/s10875-022-01289-3. Epub 2022 Jun 24.
4
Are All Primary Immunodeficiency Disorders Inborn Errors of Immunity?所有原发性免疫缺陷病都是先天性免疫缺陷吗？
Front Immunol. 2021 Jul 21;12:706796. doi: 10.3389/fimmu.2021.706796. eCollection 2021.
5
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.遗传性 T 细胞 CD28 缺陷的人易患皮肤乳头瘤病毒，但其他方面健康。
Cell. 2021 Jul 8;184(14):3812-3828.e30. doi: 10.1016/j.cell.2021.06.004. Epub 2021 Jul 1.
6
Current genetic landscape in common variable immune deficiency.常见可变免疫缺陷的当前遗传图谱。
Blood. 2020 Feb 27;135(9):656-667. doi: 10.1182/blood.2019000929.
7
The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.欧洲免疫缺陷学会（ESID）用于免疫固有性疾病临床诊断的注册工作定义。
J Allergy Clin Immunol Pract. 2019 Jul-Aug;7(6):1763-1770. doi: 10.1016/j.jaip.2019.02.004. Epub 2019 Feb 15.
8
Assessing Disease Severity in Common Variable Immunodeficiency Disorders (CVID) and CVID-Like Disorders.评估常见可变免疫缺陷病（CVID）及类CVID疾病的疾病严重程度。
Front Immunol. 2018 Sep 28;9:2130. doi: 10.3389/fimmu.2018.02130. eCollection 2018.
9
Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation.细胞毒性T淋巴细胞相关蛋白4单倍体不足相关炎症可独立于T细胞过度增殖而发生。
Front Immunol. 2018 Jul 24;9:1715. doi: 10.3389/fimmu.2018.01715. eCollection 2018.
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Expert Rev Clin Immunol. 2018 Jul;14(7):549-556. doi: 10.1080/1744666X.2018.1481750. Epub 2018 Jun 26.