共同变量免疫缺陷:通往罗马的路比通往罗马的路多。

Xiao P Peng, Andrés Caballero-Oteyza, Bodo Grimbacher
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引用次数: 11

摘要

自引入共同可变免疫缺陷(CVID)一词以来,已有50年的时间,该术语用于适应在疑似先天性免疫缺陷(IEIs)患者中发现的许多不同的抗体缺陷。从那时起,该术语如何被理解和应用于诊断和管理经历了多次修订,尽管如何准确定义和分类CVID仍存在争议。许多单基因疾病在其支持下被添加,而对CVID易感性的多基因、表观遗传和体细胞贡献的研究也获得了动力。整体IEI景观的扩展越来越多地揭示了CVID与各种其他免疫条件之间的基因型和表型重叠,而CVID患者越来越常规的基因分型继续确定影响单个基因的病理生理机制的多样性。尽管还有许多问题有待解答,但我们已经从CVID生物学中学到的经验教训极大地提高了我们对适应性免疫和先天免疫的理解。
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Common Variable Immunodeficiency: More Pathways than Roads to Rome.

Fifty years have elapsed since the term common variable immunodeficiency (CVID) was introduced to accommodate the many and varied antibody deficiencies being identified in patients with suspected inborn errors of immunity (IEIs). Since then, how the term is understood and applied for diagnosis and management has undergone many revisions, though controversy persists on how exactly to define and classify CVID. Many monogenic disorders have been added under its aegis, while investigations into polygenic, epigenetic, and somatic contributions to CVID susceptibility have gained momentum. Expansion of the overall IEI landscape has increasingly revealed genotypic and phenotypic overlap between CVID and various other immunological conditions, while increasingly routine genotyping of CVID patients continues to identify an incredible diversity of pathophysiological mechanisms affecting even single genes. Though many questions remain to be answered, the lessons we have already learned from CVID biology have greatly informed our understanding of adaptive, but also innate, immunity.

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来源期刊
CiteScore
62.60
自引率
0.00%
发文量
40
期刊介绍: The Annual Review of Pathology: Mechanisms of Disease is a scholarly journal that has been published since 2006. Its primary focus is to provide a comprehensive overview of recent advancements in our knowledge of the causes and development of significant human diseases. The journal places particular emphasis on exploring the current and evolving concepts of disease pathogenesis, as well as the molecular genetic and morphological changes associated with various diseases. Additionally, the journal addresses the clinical significance of these findings. In order to increase accessibility and promote the broad dissemination of research, the current volume of the journal has transitioned from a gated subscription model to an open access format. This change has been made possible through the Annual Reviews' Subscribe to Open program, which allows all articles published in this volume to be freely accessible to readers. As part of this transition, all articles in the journal are published under a Creative Commons Attribution (CC BY) license, which encourages open sharing and use of the research.
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