Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome is a rare monogenic autosomal recessive disorder caused by biallelic mutations in the AIRE (autoimmune regulator) gene. Patients with APECED present with heterogeneous endocrine and non-endocrine manifestations. In this study, we report an Iranian patient who presented with Addison disease, chronic mucocutaneous candidiasis, alopecia totalis, keratopathy and asplenia treated as an isolated endocrinopathy for 25 years. In the adulthood, the diagnosis of APECED was made by genetic analysis which demonstrated homozygous nonsense p.R257* (c.769C>T) mutation of AIRE. APECED has been shown to be frequent in some ethnicities including Iranian Jews. Therefore, we reviewed 39 Iranian APECED patients published in the literature. We found that most of the Iranian patients were of Jewish ethnic background and presented hypoparathyroidism, adrenal insufficiency, and candidiasis as the main clinical manifestation.

中文翻译：

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APECED 诊断延迟：来自伊朗的病例报告和文献综述。


自身免疫性多内分泌病念珠菌病外胚层营养不良 (APECED) 综合征是一种罕见的单基因常染色体隐性遗传疾病，由 AIRE（自身免疫调节因子）基因双等位基因突变引起。 APECED 患者表现出异质的内分泌和非内分泌表现。在这项研究中，我们报道了一名伊朗患者，该患者患有阿狄森氏病、慢性皮肤粘膜念珠菌病、全秃、角膜病和无脾，作为孤立性内分泌病治疗了 25 年。成年后，APECED 的诊断是通过基因分析得出的，该分析显示 AIRE 纯合无义 p.R257* (c.769C>T) 突变。 APECED 已被证明在包括伊朗犹太人在内的一些种族中很常见。因此，我们回顾了文献中发表的 39 名伊朗 APECED 患者。我们发现伊朗患者大多数为犹太裔，以甲状旁腺功能减退、肾上腺皮质功能不全、念珠菌病为主要临床表现。