Aire deficient mice develop multiple features of APECED phenotype and showaltered immune response
2002 (English)In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 11, no 4, 397-409 p.Article in journal (Refereed) Published
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.
Place, publisher, year, edition, pages
2002. Vol. 11, no 4, 397-409 p.
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-64543DOI: 10.1093/hmg/11.4.397PubMedID: 11854172OAI: oai:DiVA.org:uu-64543DiVA: diva2:92454