Sindrome poliendocrina autoimmune di tipo 1
Autosomica recessiva
Poliendocrinopatia autoimmune-candidosi-distrofia ectodermica (APECED), causata da varianti di AIRE; più comune nelle popolazioni finlandese, sarda e ebraica iraniana.
Cosa cambia con una diagnosi
Una diagnosi precoce consente di monitorare l'insufficienza surrenalica e i bassi livelli di calcio, così da poter prevenire le crisi.
Geni analizzati
Conosciuto anche come
AIRE autoimmune polyendocrinopathy; APECED syndrome; APS type 1; APS1; autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia; autoimmune polyendocrinopathy caused by mutation in AIRE; autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia; autoimmune polyendocrinopathy syndrome type 1; autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED); autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune Polyglandular Syndrome Type 1; ham syndrome; hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; MEDAC syndrome; multiple endocrine deficiency-Addison disease-candidiasis syndrome; Whitaker syndrom; Whitaker syndrome
