Gagro Alenka
Reumatizam. 2016;63 Suppl 1:66-72.
Autoimmune diseases and primary immunodeficiencies share a common pathogenesis characterized by dysregulation of immunity. Although most autoimmune diseases show a polygenic inheritance pattern, it has been shown that monogenic defects of various immune system components could lead to autoimmunity as well. These findings have opened a new pathway for understanding the development of autoimmune diseases and the overlap between immunodeficiency and autoimmunity. Th e mechanism of how a single gene defect leads to autoimmunity is not completely known. The purpose of this clinically-oriented review is to describe the incidence, clinical presentation, and possible mechanisms of autoimmunity in patients with primary immunodeficiencies relevant to rheumatologists.
自身免疫性疾病和原发性免疫缺陷具有共同的发病机制，其特征为免疫调节异常。尽管大多数自身免疫性疾病呈现多基因遗传模式，但研究表明，各种免疫系统成分的单基因缺陷也可能导致自身免疫。这些发现为理解自身免疫性疾病的发展以及免疫缺陷与自身免疫之间的重叠开辟了一条新途径。单个基因缺陷导致自身免疫的机制尚不完全清楚。这篇以临床为导向的综述旨在向风湿病学家描述原发性免疫缺陷患者自身免疫的发生率、临床表现及可能机制。
