Journal
HUMAN MOLECULAR GENETICS
Volume 11, Issue 4, Pages 397-409Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/11.4.397
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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.
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