PDF(Pubmed)
Abstract：
During the last years, studies investigating the intriguing association between immunodeficiency and autoimmunity led to the discovery of new monogenic disorders, the improvement in the knowledge of the pathogenesis of autoimmunity, and the introduction of targeted treatments. Autoimmunity is observed with particular frequency in patients with primary antibody deficiencies, such as common variable immunodeficiency (CVID) and selective IgA deficiency, but combined immunodeficiency disorders (CIDs) and disorders of innate immunity have also been associated with autoimmunity. Among CIDs, the highest incidence of autoimmunity is described in patients with autoimmune polyendocrine syndrome 1, LRBA, and CTLA-4 deficiency, and in patients with STAT-related disorders. The pathogenesis of autoimmunity in patients with immunodeficiency is far to be fully elucidated. However, altered germ center reactions, impaired central and peripheral lymphocyte negative selection, uncontrolled lymphocyte proliferation, ineffective cytoskeletal function, innate immune defects, and defective clearance of the infectious agents play an important role. In this paper, we review the main immunodeficiencies associated with autoimmunity, focusing on the pathogenic mechanisms responsible for autoimmunity in each condition and on the therapeutic strategies. Moreover, we provide a diagnostic algorithm for the diagnosis of PIDs in patients with autoimmunity.
摘要：
在过去的几年里，调查免疫缺陷和自身免疫之间有趣的关联的研究导致了新的单基因疾病的发现，对自身免疫发病机制的认识提高，并引入靶向治疗。在原发性抗体缺乏的患者中观察到自身免疫的频率特别高。如常见可变免疫缺陷(CVID)和选择性IgA缺乏症，但联合免疫缺陷障碍(CID)和先天免疫障碍也与自身免疫相关.AmongCIDs,在自身免疫性多内分泌综合征1，LRBA，和CTLA-4缺乏，以及患有STAT相关疾病的患者。免疫缺陷患者自身免疫的发病机制远未完全阐明。然而,改变了细菌中心的反应,受损的中枢和外周淋巴细胞阴性选择，不受控制的淋巴细胞增殖，细胞骨架功能无效，先天免疫缺陷，和传染性病原体的缺陷清除起着重要的作用。在本文中,我们回顾了与自身免疫相关的主要免疫缺陷，重点关注在每种情况下导致自身免疫的致病机制和治疗策略。此外，我们为自身免疫性疾病患者的PID诊断提供了一种诊断算法.
