Ontology highlight
ABSTRACT:
SUBMITTER: Skogberg G
PROVIDER: S-EPMC4135177 | biostudies-literature | 2014 Sep
REPOSITORIES: biostudies-literature
Skogberg Gabriel G Lundberg Vanja V Lindgren Susanne S Gudmundsdottir Judith J Sandström Kerstin K Kämpe Olle O Annerén Göran G Gustafsson Jan J Sunnegårdh Jan J van der Post Sjoerd S Telemo Esbjörn E Berglund Martin M Ekwall Olov O
Journal of immunology (Baltimore, Md. : 1950) 20140718 5
Down syndrome (DS), caused by trisomy of chromosome 21, is associated with immunological dysfunctions such as increased frequency of infections and autoimmune diseases. Patients with DS share clinical features, such as autoimmune manifestations and specific autoantibodies, with patients affected by autoimmune polyendocrine syndrome type 1. Autoimmune polyendocrine syndrome type 1 is caused by mutations in the autoimmune regulator (AIRE) gene, located on chromosome 21, which regulates the express ...[more]