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Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), autoimmune polyglandular syndrome, Whitaker syndrome,〔(【引用サイトリンク】title=Polyglandular Autoimmune Syndrome, Type I - eMedicine Endocrinology )〕 or candidiasis-hypoparathyroidism-Addison's disease-syndrome, is a subtype of autoimmune polyendocrine syndrome, in which multiple endocrine glands dysfunction as a result of autoimmunity. It is a genetic disorder inherited in autosomal recessive fashion due to a defect in the ''AIRE'' (Auto immune regulator) gene which is located on chromosome 21 and normally confers immune tolerance. ==Signs and symptoms== Its main features include: * A mild immune deficiency, leading to persistent mucosal and cutaneous infections with candida yeasts. There is also decreased function of the spleen (hyposplenism). * Autoimmune dysfunction of the parathyroid gland (leading to hypocalcaemia) and the adrenal gland (Addison's disease: hypoglycemia, hypotension and severe reactions in disease). * Other disease associations are: * * hypothyroidism * * hypogonadism and infertility * * vitiligo (depigmentation of the skin) * * alopecia (baldness) * * malabsorption * * pernicious anemia * * chronic active (autoimmune) hepatitis 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Autoimmune polyendocrine syndrome type 1」の詳細全文を読む スポンサード リンク
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