Autoimmun polyendokrin syndrom type 1
Autosomal recessiv
Autoimmun polyendokrinopati-candidiasis-ektodermal dystrofi (APECED), forårsaket av AIRE-varianter; vanligere i finske, sardinske og iranske jødiske populasjoner.
Hva en diagnose endrer
Tidlig diagnose gjør det mulig å følge med på binyrebarksvikt og lavt kalsium, slik at kriser kan forebygges.
Analyserte gener
Også kjent som
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
