Ferré Elise M N, Schmitt Monica M, Lionakis Michail S
Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
Front Pediatr. 2021 Nov 1;9:723532. doi: 10.3389/fped.2021.723532. eCollection 2021.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type-1 (APS-1), is a rare monogenic autoimmune disease caused by loss-of-function mutations in the autoimmune regulator () gene. AIRE deficiency impairs immune tolerance in the thymus and results in the peripheral escape of self-reactive T lymphocytes and the generation of several cytokine- and tissue antigen-targeted autoantibodies. APECED features a classic triad of characteristic clinical manifestations consisting of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and primary adrenal insufficiency (Addison's disease). In addition, APECED patients develop several non-endocrine autoimmune manifestations with variable frequencies, whose recognition by pediatricians should facilitate an earlier diagnosis and allow for the prompt implementation of targeted screening, preventive, and therapeutic strategies. This review summarizes our current understanding of the genetic, immunological, clinical, diagnostic, and treatment features of APECED.
自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良（APECED），也称为1型自身免疫性多腺体综合征（APS-1），是一种由自身免疫调节因子（AIRE）基因功能丧失突变引起的罕见单基因自身免疫性疾病。AIRE缺乏会损害胸腺中的免疫耐受，导致自身反应性T淋巴细胞外周逃逸，并产生几种针对细胞因子和组织抗原的自身抗体。APECED具有典型的三联征临床表现，包括慢性黏膜皮肤念珠菌病（CMC）、甲状旁腺功能减退和原发性肾上腺皮质功能减退（艾迪生病）。此外，APECED患者还会出现几种频率各异的非内分泌自身免疫表现，儿科医生对这些表现的认识应有助于早期诊断，并能迅速实施针对性的筛查、预防和治疗策略。本综述总结了我们目前对APECED的遗传、免疫、临床、诊断和治疗特征的认识。
