Autoimmune polyendocrine syndromes comprise a diverse group of clinical conditions characterized by functional impairment of multiple endocrine glands due to loss of immune tolerance. These syndromes also frequently include conditions such as alopecia, vitiligo, celiac disease, and autoimmune gastritis with vitamin B12 deficiency that affect nonendocrine organs. Autoimmune polyendocrine syndromes are insidious and are characterized by circulating autoantibodies and lymphocytic infiltration of the affected tissues or organs, eventually leading to organ failure.

自身免疫性多内分泌腺病综合征包括一组以因缺乏免疫耐受导致多个内分泌器官功能受损为特征的不同临床疾病。这些综合征也常常合并影响非内分泌腺器官的疾病如脱发、白癜风、自身免疫性胃炎伴维生素B12缺乏。自身免疫性多内分泌腺病综合征病情隐匿,是以出现循环自身抗体和受累组织或者器官淋巴细胞浸润,最终发展至器官衰竭为特征。

Autoimmune polyendocrine syndromes can occur in patients from early infancy to old age, and new components of a given syndrome can appear throughout life. In the past decade, we have seen the unraveling of new monogenic forms of the autoimmune polyendocrine syndrome and better diagnostic tools, both genetic tests and autoantibody analyses. More knowledge on genetic mechanisms and environmental triggers may permit subclassifying autoimmune polyendocrine syndromes into distinct entities that have relevance for treatment and prognosis. Combining early and refined diagnostics with personalized genomics could enable physicians to apply early immunomodulatory therapy that would stop the autoimmune process before irreversible organ damage occurs.