The role of immunophenotyping in common variable immunodeficiency: a narrative review.

IF 6.6 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY
Jana Neirinck, Malicorne Buysse, Ciel De Vriendt, Mattias Hofmans, Carolien Bonroy
{"title":"The role of immunophenotyping in common variable immunodeficiency: a narrative review.","authors":"Jana Neirinck, Malicorne Buysse, Ciel De Vriendt, Mattias Hofmans, Carolien Bonroy","doi":"10.1080/10408363.2024.2404842","DOIUrl":null,"url":null,"abstract":"<p><p>Common variable immunodeficiency (CVID) is a heterogeneous primary immunodeficiency (PID) characterized by an impaired immunoglobulin production, in association with an increased susceptibility to infections and a diversity of clinical manifestations. This narrative review summarizes immunophenotypic abnormalities in CVID patients and their relevance for diagnosis and disease classification. A comprehensive search across four databases - PubMED, Web of Science, EMBASE and Google Scholar - yielded 170 relevant studies published between 1988 and April 31, 2023. Over the past decades, the role of immunophenotyping in CVID diagnosis has become evident by identifying \"hallmark\" immunophenotypic aberrancies in patient subsets, with some now integrated in the consensus diagnostic criteria. Furthermore, the role of immunophenotyping in subclassifying CVID in relation to clinical presentation and prognosis has been extensively studied. Certain immunophenotypic patterns consistently correlate with clinical manifestations and/or subsets of CVID, particularly those associated with noninfectious complications (i.e. low switched memory B cells, shifts in follicular helper T cell subsets, low naïve CD4<sup>+</sup> T cells, low regulatory T cells, and expansion of CD21low B cells, often associated with autoimmunity and/or splenomegaly). Also, efforts to associate subset levels of innate immune cells, such as Natural Killer (NK) cells, invariant (i)NKT cells, innate lymphoid cells (ILCs), and dendritic cells (DCs) to CVID complications are evident albeit in a lesser degree. However, inconsistencies regarding the role of flow cytometry in classification and prognosis persist, reflecting the disease complexity, but probably also cohort variations and methodological differences between published studies. This underscores the need for collaborative efforts to integrate emerging concepts, such as standardized flow cytometry and computational tools, for a more precise CVID classification approach. Additionally, recent studies suggest a potential value of (epi)genetic-based molecular assays to this effort.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":null,"pages":null},"PeriodicalIF":6.6000,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Critical reviews in clinical laboratory sciences","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/10408363.2024.2404842","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Common variable immunodeficiency (CVID) is a heterogeneous primary immunodeficiency (PID) characterized by an impaired immunoglobulin production, in association with an increased susceptibility to infections and a diversity of clinical manifestations. This narrative review summarizes immunophenotypic abnormalities in CVID patients and their relevance for diagnosis and disease classification. A comprehensive search across four databases - PubMED, Web of Science, EMBASE and Google Scholar - yielded 170 relevant studies published between 1988 and April 31, 2023. Over the past decades, the role of immunophenotyping in CVID diagnosis has become evident by identifying "hallmark" immunophenotypic aberrancies in patient subsets, with some now integrated in the consensus diagnostic criteria. Furthermore, the role of immunophenotyping in subclassifying CVID in relation to clinical presentation and prognosis has been extensively studied. Certain immunophenotypic patterns consistently correlate with clinical manifestations and/or subsets of CVID, particularly those associated with noninfectious complications (i.e. low switched memory B cells, shifts in follicular helper T cell subsets, low naïve CD4+ T cells, low regulatory T cells, and expansion of CD21low B cells, often associated with autoimmunity and/or splenomegaly). Also, efforts to associate subset levels of innate immune cells, such as Natural Killer (NK) cells, invariant (i)NKT cells, innate lymphoid cells (ILCs), and dendritic cells (DCs) to CVID complications are evident albeit in a lesser degree. However, inconsistencies regarding the role of flow cytometry in classification and prognosis persist, reflecting the disease complexity, but probably also cohort variations and methodological differences between published studies. This underscores the need for collaborative efforts to integrate emerging concepts, such as standardized flow cytometry and computational tools, for a more precise CVID classification approach. Additionally, recent studies suggest a potential value of (epi)genetic-based molecular assays to this effort.

免疫分型在常见可变免疫缺陷症中的作用:综述。
常见变异性免疫缺陷病(CVID)是一种异质性原发性免疫缺陷病(PID),其特点是免疫球蛋白生成障碍,同时伴有感染易感性增加和临床表现多样性。这篇叙述性综述总结了 CVID 患者的免疫表型异常及其与诊断和疾病分类的相关性。通过对 PubMED、Web of Science、EMBASE 和 Google Scholar 四个数据库的全面检索,我们找到了 1988 年至 2023 年 4 月 31 日期间发表的 170 篇相关研究。在过去的几十年中,免疫分型在 CVID 诊断中的作用已变得显而易见,它能确定患者亚群的 "标志性 "免疫分型异常,其中一些已被纳入共识诊断标准。此外,免疫分型在与临床表现和预后有关的 CVID 亚分类中的作用已得到广泛研究。某些免疫表型模式始终与 CVID 的临床表现和/或亚型相关,尤其是那些与非感染性并发症相关的免疫表型模式(即低转换记忆 B 细胞、滤泡辅助 T 细胞亚型的转变、低幼稚 CD4+ T 细胞、低调节性 T 细胞和 CD21 低 B 细胞的扩增,通常与自身免疫和/或脾肿大相关)。此外,自然杀伤(NK)细胞、不变(i)NKT 细胞、先天性淋巴细胞(ILCs)和树突状细胞(DCs)等先天性免疫细胞亚群水平与 CVID 并发症的关系也很明显,尽管程度较轻。然而,流式细胞术在分类和预后中的作用仍不一致,这反映了疾病的复杂性,也可能是已发表研究的队列差异和方法差异所致。这凸显了将标准化流式细胞术和计算工具等新兴概念整合到更精确的 CVID 分类方法中的合作必要性。此外,最近的研究表明,基于(外)遗传学的分子检测对这项工作具有潜在价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
20.00
自引率
0.00%
发文量
25
审稿时长
>12 weeks
期刊介绍: Critical Reviews in Clinical Laboratory Sciences publishes comprehensive and high quality review articles in all areas of clinical laboratory science, including clinical biochemistry, hematology, microbiology, pathology, transfusion medicine, genetics, immunology and molecular diagnostics. The reviews critically evaluate the status of current issues in the selected areas, with a focus on clinical laboratory diagnostics and latest advances. The adjective “critical” implies a balanced synthesis of results and conclusions that are frequently contradictory and controversial.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信