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- databases for immunodeficiency-causing variations

   AIREbase
   Variation registry for  Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED)



AIREbase Descriptions

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.

 


This site is updated by Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 01.07.2014