Autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type 1 (APS-1), is a rare recessively inherited disorder caused by mutations in the AIRE (autoimmune regulator) gene. APECED is characterized by variable combinations of endocrine autoimmune diseases such as Addisonís disease, hypoparathyroidism, and type 1 diabetes. The AIRE protein contains motifs suggestive of a transcription regulator and can activate transcription of a reporter gene when fused to a heterologous DNA biding domain.

APECED is an autosomal recessive disease characterized by:

1. Autoimmune polyendocrinopathies: hypoparathyroidism, adrenocortical failure, iddm, gonadal failure, hypothyroidism, pernicious anemia, and hepatitis;
2. Chronic mucocutaneous candidiasis;
3. Ectodermal dystrophies: vitiligo, alopecia, keratopathy, dystrophy of dental enamel, nails and tympanic membranes. In addition, a high proportion of patients develop squamous cell carcinoma of the oral mucosa.

The disease is reported worldwide but is exceptionally prevalent among the Finnish population (incidence 1: 25000) and the Iranian Jews (incidence 1: 9000).

APECED-causing mutations are collected into AIREbase. It is patient-based database in plain text format, that contains mutation data, both published and directly submitted information. For each patient the following information is given (when available): The identification of the entry and plain English description of the mutation are followed by reference and formal characterisation of the mutation. Last are the various parameters from the patient.