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

Cel

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.

Zaproszenie do składania wniosków

FP6-2003-LIFESCIHEALTH-I
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Koordynator

UPPSALA UNIVERSITY
Adres
Sankt Olofsgatan 10 B
Uppsala
Szwecja

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Uczestnicy (16)

UNIVERSITY OF PADOVA
Włochy
Adres
Via 8 Febbraio, 2
Padova

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ROYAL COLLEGE OF SURGEONS IN IRELAND
Irlandia
Adres
123 St. Stephens Green
Dublin 2

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THE CHANCELLOR, MASTERS AND SCHOLARS OF THE UNIVERSITY OF OXFORD
United Kingdom
Adres
University Offices, Wellington Square
Oxford

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THE AUSTRALIAN NATIONAL UNIVERSITY
Australia
Adres
Building 54, Mills Road, Acton
Canberra

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LUNDS UNIVERSITET
Szwecja
Adres
Paradisgatan 5c
Lund

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UNIVERSITETET I BERGEN
Norwegia
Adres
Muséplass 1
Bergen

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MEDIZINISCHE HOCHSCHULE HANNOVER
Niemcy
Adres
Carl-neuberg Str. 1
Hannover

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NATIONAL PUBLIC HEALTH INSTITUTE
Finlandia
Adres
Mannerheimintie 166
Helsinki

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UNIVERSITY OF TARTU
Estonia
Adres
Ulikooli 18
Tartu

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UNIVERSITY OF PERUGIA
Włochy
Adres
Piazza Dell´ Università
Perugia

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UNIVERSITY OF HONG KONG
Chiny
Adres
34 Hospital Road
Hong Kong Sar

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UNIVERSITY OF SHEFFIELD
United Kingdom
Adres
Western Bank
Sheffield

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UNIVERSITY OF CAGLIARI
Włochy
Adres
Via Univerità 40
Cagliari

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THE WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH
Australia
Adres
1 G Royal Parade
Parkville, Victoria

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NATIONAL UNIVERSITY OF IRELAND, DUBLIN, UNIVERSITY COLLEGE DUBLIN
Irlandia
Adres
Belfield
Dublin

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UNIVERSITÄT BASEL
Szwajcaria
Adres
Petersgraben 35
Basel

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