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Immunoglobulin germline gene variation and its impact on human disease
Genes and Immunity ( IF 5.0 ) Pub Date : 2021-06-26 , DOI: 10.1038/s41435-021-00145-5
Ivana Mikocziova 1, 2 , Victor Greiff 1 , Ludvig M Sollid 1, 2
Affiliation  

Immunoglobulins (Ig) play an important role in the immune system both when expressed as antigen receptors on the cell surface of B cells and as antibodies secreted into extracellular fluids. The advent of high-throughput sequencing methods has enabled the investigation of human Ig repertoires at unprecedented depth. This has led to the discovery of many previously unreported germline Ig alleles. Moreover, it is becoming clear that convergent and stereotypic antibody responses are common where different individuals recognise defined antigenic epitopes with the use of the same Ig V genes. Thus, germline V gene variation is increasingly being linked to the differential capacity of generating an effective immune response, which might lead to varying disease susceptibility. Here, we review recent evidence of how germline variation in Ig genes impacts the Ig repertoire and its subsequent effects on the adaptive immune response in vaccination, infection, and autoimmunity.



中文翻译:


免疫球蛋白种系基因变异及其对人类疾病的影响



免疫球蛋白 (Ig) 在免疫系统中发挥着重要作用,无论是在 B 细胞的细胞表面上表达为抗原受体,还是分泌到细胞外液中的抗体。高通量测序方法的出现使得人类 Ig 库的研究达到了前所未有的深度。这导致了许多以前未报道的种系 Ig 等位基因的发现。此外,越来越清楚的是,当不同的个体使用相同的 Ig V 基因识别特定的抗原表位时,趋同和刻板的抗体反应是常见的。因此,种系 V 基因变异越来越多地与产生有效免疫反应的能力差异相关,这可能导致不同的疾病易感性。在这里,我们回顾了 Ig 基因种系变异如何影响 Ig 库及其对疫苗接种、感染和自身免疫中适应性免疫反应的后续影响的最新证据。

更新日期:2021-06-28
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