Autoimmune polyendocrine syndrome type 1 | |
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Other names | Autoimmune polyendocrinopathy-candidiasis–ectodermal dystrophy/dysplasia (APECED),
Autoimmune polyglandular syndrome type 1, Whitaker syndrome, Candidiasis-hypoparathyroidism–Addison's disease syndrome |
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Autoimmune polyendocrine syndrome type 1 is autosomal recessive | |
Specialty | Endocrinology, medical genetics |
Symptoms | chronic mucocutaneous candidiasis |
Causes | mutation in AIRE gene |
Diagnostic method | CT scan, biopsy |
Treatment | hormone therapy, antifungals, immunosuppression |
Autoimmune polyendocrine syndrome type 1 (APS-1), is a subtype of autoimmune polyendocrine syndrome (autoimmune polyglandular syndrome). It causes the dysfunction of multiple endocrine glands due to autoimmunity. It is a genetic disorder, inherited in autosomal recessive fashion due to a defect in the AIRE gene (autoimmune regulator), which is located on chromosome 21 and normally confers immune tolerance.[1][2][3]
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