Reumatologia, Dipartimento di Medicina Interna e Specialità Mediche, Sapienza Università di Roma, Rome, Italy.
Immunol Res. 2013 Jul;56(2-3):206-19. doi: 10.1007/s12026-013-8396-9.
Autoimmune diseases (ADs) are chronic conditions initiated by the loss of immunological tolerance to self-antigens. The pathogenic hypothesis comprises a complex interaction between genetic, environmental and hormonal factors that interact with an individual over time generating a dysregulation of the immune system leading to disease development. Several polymorphic genes contribute to the development of ADs. Furthermore, age and gender play a major role by influencing hormone levels that can represent the fulcrum unbalancing from susceptibility to protection. Evidences suggest that while all these steps occur, the susceptible individual develops autoantibodies over a long time lapse. Such autoantibody production is genetically determined and finally, their presence seems to determine the clinical presentation of ADs. The genetic predisposition to the developments of autoantibodies and toward the disease process may overlap. The unveiling of these mechanisms could allow not only to treat but also to prevent the development of autoimmune diseases.
自身免疫性疾病 (ADs) 是由对自身抗原失去免疫耐受引起的慢性疾病。发病假说包括遗传、环境和激素因素之间的复杂相互作用，这些因素随着时间的推移与个体相互作用，导致免疫系统失调，从而导致疾病的发生。几个多态性基因有助于 AD 的发展。此外，年龄和性别通过影响激素水平起着重要作用，这些水平可能代表从易感性到保护的失衡支点。有证据表明，虽然所有这些步骤都在发生，但易感个体在很长一段时间内会产生自身抗体。这种自身抗体的产生是由遗传决定的，最终，它们的存在似乎决定了 AD 的临床表现。对自身抗体产生和疾病过程的遗传易感性可能会重叠。揭示这些机制不仅可以治疗，还可以预防自身免疫性疾病的发展。
