Endocrine Abstracts

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Autoimmune Polyglandular Syndrome (APS1), also known as Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), is a rare but frequently debilitating disorder, usually presenting in childhood and adolescence; it is typically caused by homozygous AIRE mutations. The cardinal manifestations are chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism and autoimmune adrenal insufficiency; the development of any two of these three classic features leads to...