A girl with lethargy and severe electrolyte imbalance.

Abstract excerpt

BACKGROUND: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disorder characterised by a triad of mucocutaneous candidiasis, hypoparathyroidism and primary adrenal failure. It is caused by a mutation in the autoimmune regulator gene AIRE, involved in negative selection of self-reacting T-lymphocytes. CASE PRESENTATION: A young girl had been lethargic for 10 weeks following an upper...

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