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- W2150004911 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." @default.
- W2150004911 created "2016-06-24" @default.
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- W2150004911 date "2002-02-01" @default.
- W2150004911 modified "2023-10-18" @default.
- W2150004911 title "Aire deficient mice develop multiple features of APECED phenotype and show altered immune response" @default.
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- W2150004911 doi "https://doi.org/10.1093/hmg/11.4.397" @default.
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