Autoimmun polyendokrin syndrom type 1
Autosomal recessiv
Autoimmun polyendokrinopati-candidiasis-ektodermal dystrofi (APECED), forårsaget af AIRE-varianter; hyppigere i finske, sardiske og iranske jødiske befolkninger.
Hvad en diagnose ændrer
En tidlig diagnose gør det muligt at overvåge binyreinsufficiens og lavt calcium, så kriser kan forebygges.
Analyserede gener
Også kendt 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
