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首页> 外文期刊>Clinical immunology: The official journal of the Clinical Immunology Society >Bone marrow transcriptome and epigenome profiles of equine common variable immunodeficiency patients unveil block of B lymphocyte differentiation
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Bone marrow transcriptome and epigenome profiles of equine common variable immunodeficiency patients unveil block of B lymphocyte differentiation

机译：马普通变量免疫缺陷患者的骨髓转录组和表观基因组概况揭示了B淋巴细胞分化的障碍

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摘要

Common variable immunodeficiency (CVID) is a late-onset humoral deficiency characterized by B lymphocyte dysfunction or loss, decreased immunoglobulin production, and recurrent bacterial infections. CVID is the most frequent human primary immunodeficiency but still presents challenges in the understanding of Its etiology and treatment. CVID in equine patients manifests with a natural impairment of B lymphocyte differentiation, and is a unique model to identify genetic and epigenetic mechanisms of disease. Bone marrow transcriptome analyses revealed decreased expression of genes indicative of the pro-B cell differentiation stage, importantly PAX5 (p <= 0.023). We hypothesized that aberrant epigenetic regulation caused PAX5 gene silencing, resulting in the late-onset and non-familial manifestation of CVID. A significant increase in PAX5 enhancer region methylation was identified in equine CVID patients by genome-wide reduced-representation bisulfite sequencing and bisulfite PCR sequencing (p = 0.000). Thus, we demonstrate that integrating transcriptomics and epigenetics in CVID enlightens potential mechanisms of dysfunctional B lymphopoiesis or function. (C) 2015 Elsevier Inc. All rights reserved.
机译：常见的可变免疫缺陷症（CVID）是一种晚期发作的体液缺乏症，其特征是B淋巴细胞功能障碍或丧失，免疫球蛋白生成减少以及细菌反复感染。 CVID是人类最常见的原发性免疫缺陷，但在了解其病因和治疗方面仍然提出了挑战。马患者中的CVID表现为B淋巴细胞分化的自然损害，并且是鉴定疾病的遗传和表观遗传机制的独特模型。骨髓转录组分析揭示了指示pro B细胞分化阶段的基因表达下降，重要的是PAX5（p <= 0.023）。我们假设异常的表观遗传调控导致PAX5基因沉默，从而导致CVID的晚期发作和非家族性表现。通过全基因组减少代表亚硫酸氢盐测序和亚硫酸氢盐PCR测序，在马CVID患者中鉴定出PAX5增强子区域甲基化的显着增加（p = 0.000）。因此，我们证明在CVID中整合转录组学和表观遗传学可启迪功能失调的B淋巴细胞生成或功能的潜在机制。 （C）2015 Elsevier Inc.保留所有权利。

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