Dataset Information


Transcription profiling by array of human APECED patients in vitro monocyte-differentiated dendritic cells vs. healthy controls

ABSTRACT: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a monogenic autoimmune disease caused by mutations in the AIRE gene. AIRE functions as a transcriptional regulator and it has a central role in the development of immunological tolerance. AIRE regulates the expression of ectopic antigens in epithelial cells of the thymic medulla and has been shown to participate in the development of peripheral tolerance. However, the mechanism of action of AIRE has remained elusive. To further investigate the role of AIRE in host immune functions, using microarray technology, we studied the properties and transcript profiles in in vitro monocyte-differentiated dendritic cells (moDCs) obtained from APECED patients and healthy controls. Experiment Overall Design: This study includes three female APECED patients between the ages of 26 and 51 years and all patients carried the homozygote FinnMajor mutation (R257X) in the AIRE gene. As controls, we used buffy coats from helathy voluntary blood donors obtained from the Finnish Red Cross Transfusion Service (Helsinki, Finland). The controls were sex- and age-matched. Peripheral blood mononuclear cells (PBMC) were isolated from these subjects. The PBMCs were stimulated to differentiate into mature moDCs. RNA harvested from these cells was labeled and hybridized into microarrays. Part of the cells were treated with candida albicans. RNA from these cells was similarly labeled and studied with mocroarrays.

INSTRUMENT(S): 418 [Affymetrix]

ORGANISM(S): Homo sapiens  

SUBMITTER: Niko Kristian Sillanpaa  

PROVIDER: E-GEOD-11309 | ArrayExpress | 2008-10-26



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