This study delves into the intricate landscape of primary immunodeficiencies, with a particular focus on antibody deficiencies characterized by near-normal immunoglobulin levels or hyperimmunoglobulinemia. Contrary to the conventional focus on genetic dysregulation, these studies investigate the key roles of immune checkpoints, such as PD-1/PD-L1, CTLA-4/CD86, and CD200R/CD200, on selected subpopulations of T and B lymphocytes and their serum concentrations of soluble forms in patients recruited for the studies in healthy volunteers. In addition, the studies also show the role of Epstein–Barr virus (EBV) reactivation and interactions with tested pathways of immune checkpoints involved in the immunopathogenesis of this disease. By examining the context of antibody deficiencies, this study sheds light on the nuanced interplay of factors beyond genetics, particularly the immune dysregulations that occur in the course of this type of disease and the potential role of EBV reactivation, which affects the clinical presentation of patients and may contribute to the development of cancer in the future, especially related to hematological malignancies.
本研究深入探讨了原发性免疫缺陷的复杂领域，特别关注以接近正常免疫球蛋白水平或高免疫球蛋白血症为特征的抗体缺陷。与传统的基因调控失调研究不同，本研究聚焦于免疫检查点（如PD-1/PD-L1、CTLA-4/CD86和CD200R/CD200）在特定T淋巴细胞和B淋巴细胞亚群中的关键作用，以及这些检查点在健康志愿者和患者血清中可溶性形式的浓度。此外，研究还揭示了爱泼斯坦-巴尔病毒（EBV）再激活及其与免疫检查点通路的相互作用在该疾病免疫发病机制中的影响。通过分析抗体缺陷的背景，本研究阐明了除遗传因素外多种因素的微妙相互作用，特别是此类疾病过程中发生的免疫失调，以及EBV再激活的潜在作用——这些因素不仅影响患者的临床表现，还可能促进未来癌症（尤其是血液系统恶性肿瘤）的发生发展。
肿瘤(癌症)患者之家