Models to explore the molecular function and regulation of AIRE

Thomas Lovewell; Rachid Tazi-Ahnini

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Models to explore the molecular function and regulation of AIRE

机译：探索AIRE分子功能和调控的模型

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Mutations in the Autoimmune Regulator ( AIRE ) gene are responsible for Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED). Within the thymic medulla, AIRE regulates the expression of a large number of tissue-specific self-antigens (TSAs) and the recognisation of these TSAs by auto-reactive T-cells is a prerequisite step for thymic negative selection. APECED patients will therefore develop multi-organ autoimmune disease because of the defective role of AIRE in thymic negative selection. Aire-deficient mice also develop multi-organ autoimmune disease and in this review we will focus on how both animal and cellular models have been used to dissect biochemical function of AIRE/Aire which is an essential step toward the understanding disease pathogenesis.

机译：自身免疫调节剂（AIRE）基因中的突变是导致自身免疫性多内分泌病念珠菌性皮肤外营养不良（APECED）的原因。在胸腺髓质中，AIRE调节大量组织特异性自身抗原（TSA）的表达，而通过自动反应性T细胞识别这些TSA是胸腺阴性选择的必要步骤。由于AIRE在胸腺阴性选择中的作用不足，因此APECED患者将发展成多器官自身免疫疾病。缺乏Aire的小鼠也会发展多器官自身免疫性疾病，在本综述中，我们将重点关注动物模型和细胞模型如何用于剖析AIRE / Aire的生化功能，这是了解疾病发病机理的重要步骤。

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《Egyptian Journal of Medical Human Genetics》 |2011年第2期|共9页
作者
Thomas Lovewell; Rachid Tazi-Ahnini;
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机译：探索AIRE分子功能和调控的模型

Models to explore the molecular function and regulation of AIRE

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