AIRE hypoexpression and transcriptome profiles correlate with thymic impairment in Down syndrome

ABSTRACT: Down syndrome (DS) patients frequently develop organ-specific autoimmune disorders, particularly endocrinopathies and coeliac disease, as well as an increased susceptibility to mucosal candidiasis. These clinical features resemble APECED (autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy), a monogenic condition due to mutations in the AIRE gene, located on 21q22.3 and already described as down-regulated in 21 trisomy. Here we investigated AIRE expression and global gene expression profiles in surgically removed thymuses from 14 DS infants and children with congenital heart defects and from 42 age-matched individuals with cardiac defect as an isolated malformation. Immunohistochemistry revealed significantly reduced AIRE expression in DS thymuses (70.48M-BM-149.59 positive cell

ORGANISM(S): Homo sapiens

SUBMITTER: Patricia Ramos 

PROVIDER: E-GEOD-23910 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress