Ferré Elise M N, Lee Chyi-Chia R, Lionakis Michail S
Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology (LCIM), NIAID, NIH, Bethesda, MD, USA.
Laboratory of Pathology, Clinical Center for Cancer Research, NCI, NIH, Bethesda, MD, USA.
Clin Immunol Commun. 2024 Jun;5:30-33. doi: 10.1016/j.clicom.2024.03.001. Epub 2024 Mar 6.
Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) is a monogenic autoimmune disease most often resulting from biallelic loss-of-function variants in the autoimmune regulator () gene. Although typically characterized by the classic triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency, we have recently reported that the clinical spectrum of the syndrome is far broader that previously described and that incorporation of an adjunct triad of APECED rash, autoimmune enteritis-associated intestinal dysfunction, and enamel hypoplasia in the classic triad manifestations could lead to earlier diagnosis. Among the adjunct triad manifestations, APECED rash occurs in 66% of American APECED patients by age 3, most often developing in the first year of life. Here, we describe the clinical and histological features of protracted APECED rash manifesting together with recurrent mucocutaneous candidiasis as the first two disease components of APECED in a 10-month-old girl.
自身免疫性多内分泌腺病-念珠菌病-外胚层发育不良（APECED）是一种单基因自身免疫性疾病，最常见于自身免疫调节因子（AIRE）基因双等位基因功能丧失变异。尽管该综合征通常以慢性黏膜皮肤念珠菌病、甲状旁腺功能减退和肾上腺功能不全这一经典三联征为特征，但我们最近报道，该综合征的临床谱比之前描述的要广泛得多，并且在经典三联征表现中加入APECED皮疹、自身免疫性肠炎相关肠道功能障碍和牙釉质发育不全这一辅助三联征，可能会实现更早诊断。在辅助三联征表现中，66%的美国APECED患者在3岁时会出现APECED皮疹，最常在生命的第一年出现。在此，我们描述了一名10个月大女孩中，迁延性APECED皮疹与复发性黏膜皮肤念珠菌病作为APECED的前两种疾病成分共同出现时的临床和组织学特征。
