|
Vascular
Biology >> Immunity >> Cancer
>> Neurobiology
>>
Project: EURAPS; Autoimmune
polyendocrine syndrome type I – a rare disorder
of childhood as a model for autoimmunity
Principal Investigators: Olle Kämpe,
Uppsala University, Sweden (Co-ordinator); Dolores Cahill;
Corrado Betterle, University of Padua, Italy; Vincenzo
Cerundolo, University of Oxford, United Kingdom; Christopher
C. Goodnow, Australian National University, Canberra,
Australia; Georg A. Holländer, Basel University
Medical School, Switzerland; Rikard Holmdahl, Lund University,
Sweden; Eystein Husebye, University of Bergen, Norway;
Michael P. Manns, Medical School of Hannover, Germany;
Ed Palmer, University Hospital, Basel, Switzerland;
Leena Peltonen, National Public Health Institute, Finland;
Pärt Peterson, University of Tartu, Estonia; Luiginia
Romani, University of Perugia, Italy; Lakshamn P. Samaranayake,
University of Hong Kong, Hong Kong; Anthony P. Weetman,
University of Sheffield, United Kingdom; Stefano De
Virgiliis, Cagliari University, Italy; Hamish Scott,
Walter and Eliza Hall Instute, Melbourne, Australia
Autoimmune polyendocrine syndrome type
I (APS I), a rare genetic disorder of childhood, has
proven to be an invaluable tool in understanding autoimmune
reactions. However, the cellular and molecular mechanisms
leading to this complex syndrome remain incompletely
understood. Animal models recently generated by partners
of this consortium will undoubtedly provide insight
into the pathogenesis of APS I and autoimmunity in general.
All the major scientific achievements in the area over
the past twenty years have been accomplished by a number
of European scientists who are all participating in
this proposal. 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 CHP will use the proteomic technology of
high content human protein arrays to find new autoantigens
by profiling the antibody repertoire in human serum
from APS-1 patients.
<<
Return to Infection, Inflammation, Immunity & Host
Response
|
|
