一例AIRE基因显性负性突变患者的髓鞘少突胶质细胞糖蛋白抗体相关疾病

文献信息

中文摘要

髓鞘少突胶质细胞糖蛋白抗体相关疾病是一种影响中枢神经系统的脱髓鞘疾病。自身免疫调节因子突变破坏中枢耐受，导致免疫缺陷和自身免疫表现。我们报告一例49岁亚洲男性，患有复发性髓鞘少突胶质细胞糖蛋白抗体相关疾病，并携带杂合显性负性自身免疫调节因子突变（c.901G > A，p.Val301Met），同时伴有白癜风、隐球菌病和鼻咽癌。该病例提示阴性选择失败与髓鞘少突胶质细胞糖蛋白抗体相关疾病之间可能存在联系，并提示自身反应性T细胞可能是主要致病驱动因素，意味着恢复免疫耐受可能为未来治疗方法提供启示。

英文摘要

Myelin oligodendrocyte glycoprotein antibody-associated disease is a demyelinating disorder affecting the central nervous system. Autoimmune regulator mutations disrupt central tolerance and cause immunodeficiency and autoimmune manifestations. We report the case of a 49-year-old Asian male with relapsing myelin oligodendrocyte glycoprotein antibody-associated disease and a heterozygous dominant-negative autoimmune regulator mutation (c.901G > A, p.Val301Met), alongside vitiligo, cryptococcal disease and nasopharyngeal carcinoma. This case raises a potential link between negative selection failure and myelin oligodendrocyte glycoprotein antibody-associated disease and suggests that autoreactive T cells may be primary pathogenetic drivers, implying that restoring immune tolerance could inform future therapeutic approaches.