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Autoimmune polyendocrine syndrome type I - a rare disorder of childhood as a model for autoimmunity

Objective

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.

Call for proposal

FP6-2003-LIFESCIHEALTH-I
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Funding Scheme

STREP - Specific Targeted Research Project

Coordinator

UPPSALA UNIVERSITY
Address
Sankt Olofsgatan 10 B
Uppsala
Sweden

Participants (16)

UNIVERSITY OF PADOVA
Italy
Address
Via 8 Febbraio, 2
Padova
ROYAL COLLEGE OF SURGEONS IN IRELAND
Ireland
Address
123 St. Stephens Green
Dublin 2
THE CHANCELLOR, MASTERS AND SCHOLARS OF THE UNIVERSITY OF OXFORD
United Kingdom
Address
University Offices, Wellington Square
Oxford
THE AUSTRALIAN NATIONAL UNIVERSITY
Australia
Address
Building 54, Mills Road, Acton
Canberra
LUNDS UNIVERSITET
Sweden
Address
Paradisgatan 5C
Lund
UNIVERSITETET I BERGEN
Norway
Address
Muséplass 1
Bergen
MEDIZINISCHE HOCHSCHULE HANNOVER
Germany
Address
Carl-neuberg Str. 1
Hannover
NATIONAL PUBLIC HEALTH INSTITUTE
Finland
Address
Mannerheimintie 166
Helsinki
UNIVERSITY OF TARTU
Estonia
Address
Ulikooli 18
Tartu
UNIVERSITY OF PERUGIA
Italy
Address
Piazza Dell´ Università
Perugia
UNIVERSITY OF HONG KONG
China
Address
34 Hospital Road
Hong Kong Sar
UNIVERSITY OF SHEFFIELD
United Kingdom
Address
Western Bank
Sheffield
UNIVERSITY OF CAGLIARI
Italy
Address
Via Univerità 40
Cagliari
THE WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH
Australia
Address
1 G Royal Parade
Parkville, Victoria
NATIONAL UNIVERSITY OF IRELAND, DUBLIN, UNIVERSITY COLLEGE DUBLIN
Ireland
Address
Belfield
Dublin
UNIVERSITÄT BASEL
Switzerland
Address
Petersgraben 35
Basel