Skip to main content

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

Objetivo

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.

Convocatoria de propuestas

FP6-2003-LIFESCIHEALTH-I
Consulte otros proyectos de esta convocatoria

Coordinador

UPPSALA UNIVERSITY
Dirección
Sankt Olofsgatan 10 B
Uppsala
Suecia

Ver en el mapa

Participantes (16)

UNIVERSITY OF PADOVA
Italia
Dirección
Via 8 Febbraio, 2
Padova

Ver en el mapa

ROYAL COLLEGE OF SURGEONS IN IRELAND
Irlanda
Dirección
123 St. Stephens Green
Dublin 2

Ver en el mapa

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

Ver en el mapa

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

Ver en el mapa

LUNDS UNIVERSITET
Suecia
Dirección
Paradisgatan 5c
Lund

Ver en el mapa

UNIVERSITETET I BERGEN
Noruega
Dirección
Muséplass 1
Bergen

Ver en el mapa

MEDIZINISCHE HOCHSCHULE HANNOVER
Alemania
Dirección
Carl-neuberg Str. 1
Hannover

Ver en el mapa

NATIONAL PUBLIC HEALTH INSTITUTE
Finlandia
Dirección
Mannerheimintie 166
Helsinki

Ver en el mapa

UNIVERSITY OF TARTU
Estonia
Dirección
Ulikooli 18
Tartu

Ver en el mapa

UNIVERSITY OF PERUGIA
Italia
Dirección
Piazza Dell´ Università
Perugia

Ver en el mapa

UNIVERSITY OF HONG KONG
China
Dirección
34 Hospital Road
Hong Kong Sar

Ver en el mapa

UNIVERSITY OF SHEFFIELD
United Kingdom
Dirección
Western Bank
Sheffield

Ver en el mapa

UNIVERSITY OF CAGLIARI
Italia
Dirección
Via Univerità 40
Cagliari

Ver en el mapa

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

Ver en el mapa

NATIONAL UNIVERSITY OF IRELAND, DUBLIN, UNIVERSITY COLLEGE DUBLIN
Irlanda
Dirección
Belfield
Dublin

Ver en el mapa

UNIVERSITÄT BASEL
Suiza
Dirección
Petersgraben 35
Basel

Ver en el mapa