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autoimmune polyendocrine syndrome type 1 : ウィキペディア英語版
autoimmune polyendocrine syndrome type 1

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



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