Aire deficient mice develop multiple features of APECED phenotype and show altered immune response. Export

@article{citeulike:1064963, abstract = {Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a monogenic autosomal recessive disease caused by mutations in the AIRE gene. Here we have produced knock-out mice for the Aire gene. The Aire-/- mice develop normally; however, autoimmune features of APECED in Aire-/- mice are evident, including multiorgan lymphocytic infiltration, circulating autoantibodies and infertility. The distribution of B and T cells and thymic maturation as well as activation of T cells appear normal, while the TCR-Vbeta repertoire is altered in peripheral T cells of Aire-/- mice. When mice are challenged with immunization, the peripheral T cells of Aire-/- mice have a 3-5-fold increased proliferation. These findings suggest that the Aire gene is not necessary for normal T cell education and development, while a defect in immune response detected in challenged Aire-/- mice underlines the crucial role of AIRE/Aire in maintaining homeostatic regulation in the immune system.}, address = {Department of Human Genetics, UCLA School of Medicine, Gonda Center, University of California Los Angeles, Los Angeles, CA 90095-7088, USA.}, author = {Ramsey, C. and Winqvist, O. and Puhakka, L. and Halonen, M. and Moro, A. and K\"{a}mpe, O. and Eskelin, P. and Pelto-Huikko, M. and Peltonen, L.}, citeulike-article-id = {1064963}, citeulike-linkout-0 = {http://view.ncbi.nlm.nih.gov/pubmed/11854172}, citeulike-linkout-1 = {http://www.hubmed.org/display.cgi?uids=11854172}, day = {15}, issn = {0964-6906}, journal = {Hum Mol Genet}, keywords = {aire, apeced}, month = {February}, number = {4}, pages = {397--409}, posted-at = {2007-01-24 10:57:15}, priority = {2}, title = {Aire deficient mice develop multiple features of APECED phenotype and show altered immune response.}, url = {http://view.ncbi.nlm.nih.gov/pubmed/11854172}, volume = {11}, year = {2002} }

TY - JOUR ID - citeulike:1064963 L3 - citeulike-article-id:1064963 N2 - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a monogenic autosomal recessive disease caused by mutations in the AIRE gene. Here we have produced knock-out mice for the Aire gene. The Aire-/- mice develop normally; however, autoimmune features of APECED in Aire-/- mice are evident, including multiorgan lymphocytic infiltration, circulating autoantibodies and infertility. The distribution of B and T cells and thymic maturation as well as activation of T cells appear normal, while the TCR-Vbeta repertoire is altered in peripheral T cells of Aire-/- mice. When mice are challenged with immunization, the peripheral T cells of Aire-/- mice have a 3-5-fold increased proliferation. These findings suggest that the Aire gene is not necessary for normal T cell education and development, while a defect in immune response detected in challenged Aire-/- mice underlines the crucial role of AIRE/Aire in maintaining homeostatic regulation in the immune system. IS - 4 JF - Hum Mol Genet SN - 0964-6906 AD - Department of Human Genetics, UCLA School of Medicine, Gonda Center, University of California Los Angeles, Los Angeles, CA 90095-7088, USA. EP - 409 TI - Aire deficient mice develop multiple features of APECED phenotype and show altered immune response. VL - 11 SP - 397 KW - aire KW - apeced AU - Ramsey, C AU - Winqvist, O AU - Puhakka, L AU - Halonen, M AU - Moro, A AU - Kämpe, O AU - Eskelin, P AU - Pelto-Huikko, M AU - Peltonen, L PY - 2002/02/15/ UR - http://view.ncbi.nlm.nih.gov/pubmed/11854172 ER -