Obiettivo
Autoimmune polyendocrine syndrome type I (APS I), a rare genetic disorder of childhood, has proven to be an invaluable tool in understanding autoimmune reactions. APS I (OMIM 240300), also known as APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy), is a severe autosomal recessive disorder caused by mutations in the Aire gene on chromosome 21. The disorder begins in early childhood and the patients gradually develop symptoms from autoimmune reactions in different endocrine and non-endocrine tissues and, in addition, mucocutaneous candidiasis, one of the hallmarks of the disease phenotype. APS I is characterized by autoantibodies against several defined autoantigens often identical to those found in more common autoimmune disorders such as type 1 diabetes mellitus and Addison's disease. The defective gene, Aire, has been identified and multiple mutations have been characterized. Aire-deficient mice, with the same genetic defect as the human disease, have been produced.
The aim is to capitalize on the collected strengths and expertise of European investigators and establish a pan-European patient database and biobank. A further aim is to use a genome-wide approach to define the signalling pathways affected by the defective Aire molecule. Another aim is to maximize the human-mouse cross talk in our efforts to identify tissue specific autoantigens and immunological peptides of importance in patients and mice, and to determine their role in the disease pathogenesis. Our genomics-based approach will facilitate the identification of genes modulating the intensity and/or the course of autoimmune reactions as well as the cause of Candida albicans infection in APS I patients. This information will not only help patients with this rare disorder but will also increase our understanding of the pathogenesis of autoimmune diseases in general and could potentially lead to novel therapeutic strategies for treating common autoimmune disorders.
Campo scientifico
Parole chiave
Invito a presentare proposte
FP6-2003-LIFESCIHEALTH-I
Vedi altri progetti per questo bando
Meccanismo di finanziamento
STREP - Specific Targeted Research ProjectCoordinatore
UPPSALA
Svezia
Mostra sulla mappa
Partecipanti (16)
PADOVA
Mostra sulla mappa
DUBLIN 2
Mostra sulla mappa
OXFORD
Mostra sulla mappa
CANBERRA
Mostra sulla mappa
LUND
Mostra sulla mappa
BERGEN
Mostra sulla mappa
HANNOVER
Mostra sulla mappa
HELSINKI
Mostra sulla mappa
TARTU
Mostra sulla mappa
PERUGIA
Mostra sulla mappa
HONG KONG SAR
Mostra sulla mappa
SHEFFIELD
Mostra sulla mappa
CAGLIARI
Mostra sulla mappa
PARKVILLE, VICTORIA
Mostra sulla mappa
DUBLIN
Mostra sulla mappa
BASEL
Mostra sulla mappa