||- databases for immunodeficiency-causing variations
Variation registry for
Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED)
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:
- Autoimmune polyendocrinopathies: hypoparathyroidism, adrenocortical
failure, iddm, gonadal failure, hypothyroidism, pernicious anemia, and
- Chronic mucocutaneous candidiasis;
- 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
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.
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© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 01.07.2014