Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany.
Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany.
J Allergy Clin Immunol. 2016 Jan;137(1):3-17. doi: 10.1016/j.jaci.2015.11.004.
Autoimmune and immunodeficiency diseases are outcomes of a dysfunctional immune system and represent 2 sides of the same coin. Multiple single-gene defects have been identified, resulting in rare diseases with features of both autoimmunity and immunodeficiency. On the other hand, more common autoimmune diseases, such as rheumatoid arthritis and systemic lupus erythematosus, show a polygenic inheritance pattern. Not surprisingly, the genes implicated in single-gene disorders have also been shown to be linked to polygenic disorders. In this review article, we discuss the contribution of various immune system genes to common polygenic autoimmune disorders, as well as the pathophysiologic pathways and clinical features of monogenic defects that result in autoimmune disease. We also explore the hypotheses underlying the development of autoimmune disease and the overlap between immunodeficiency and autoimmunity.
自身免疫和免疫缺陷疾病是免疫系统功能障碍的结果，代表同一枚硬币的两面。已经确定了多种单基因缺陷，导致具有自身免疫和免疫缺陷特征的罕见疾病。另一方面，更常见的自身免疫性疾病，如类风湿关节炎和系统性红斑狼疮，表现出多基因遗传模式。毫不奇怪，单基因疾病相关的基因也与多基因疾病有关。在这篇综述文章中，我们讨论了各种免疫系统基因对常见多基因自身免疫性疾病的贡献，以及导致自身免疫性疾病的单基因缺陷的病理生理途径和临床特征。我们还探讨了自身免疫性疾病发展的假设以及免疫缺陷和自身免疫之间的重叠。
