Abstract
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. CMC can be complicated by systemic candidiasis or oral squamous cell carcinoma (SCC), and may lead to death. The role of chronic Candida infection in the etiopathogenesis of oral SCC is unclear. Long-term use of fluconazole has led to the emergence of Candida albicans strains with decreased susceptibility to azoles. CMC is associated with an impaired Th17 cell response; however, it remains unclear whether decreased serum IL-17 and IL-22 levels are related to a defect in cytokine production or to neutralizing autoantibodies resulting from mutations in the AIRE gene.
Highlights
Autoimmune polyendocrine syndrome type 1 (APS-1), known as autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome, is characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency
Unlike in human immunodeficiency virus (HIV) patients, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) patients with CMC treated with fluconazole have a high risk of becoming colonized with C. albicans with decreased susceptibility to fluconazole [76]
Autoantibodies against IL-22 and IL-17F seem to be more prevalent in APECED patients with CMC than in those without CMC, suggesting that type Th17 cytokines are central in human epithelial immunity against Candida infection (Figure 1)
Summary
Autoimmune polyendocrine syndrome type 1 (APS-1), known as autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome, is characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. This syndrome was formerly known as Whitaker syndrome [1]. Other autoimmune disorders have been described, such as hypergonadotrophic hypogonadism, thyroid disease, type 1 diabetes, coeliac disease, liver disease, alopecia, vitiligo, chronic atrophic gastritis, and hypophysitis These autoimmune disorders are associated with ectodermal dystrophy, asplenia, and the presence of several autoantibodies, even in the absence of corresponding organ dysfunction [3]. CMC can be complicated by systemic candidiasis or oral squamous cell carcinomas (SCCs), and may lead to death [23, 24]
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