Polyglandular autoimmune syndrome type I - a novel AIRE mutation in a North American patient.

Abstract excerpt

Autoimmune polyglandular syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare autoimmune disease that results from autosomal recessive mutations of the human autoimmune regulatory (AIRE) gene. We present the case of a 17-year-old North American girl of primarily Norwegian descent with a novel AIRE gene mutation causing APS-1. In addition...

Topics

• Adolescent
• Female
• Humans
• Mutation
• Polyendocrinopathies, Autoimmune
• Prognosis
• Transcription Factors
• AIRE Protein