Aire deficient mice develop multiple features of APECED phenotype and showaltered immune response

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.

Winqvist, OlaUppsala universitet,Ludwiginstitutet för cancerforskning (author)
Puhakka, L (author)
Halonen, M (author)
Moro, A (author)
Kämpe, OlleUppsala universitet,Ludwiginstitutet för cancerforskning(Swepub:uu)ollekamp (author)
Eskelin, P (author)
Pelto-Huikko, M (author)
Peltonen, L (author)
Uppsala universitetLudwiginstitutet för cancerforskning (creator_code:org_t)

In:Human Molecular Genetics: Oxford University Press (OUP)11:4, s. 397-4090964-69061460-2083

By the author/editor: Ramsey, C; Winqvist, Ola; Puhakka, L; Halonen, M; Moro, A; Kämpe, Olle; show more...; Eskelin, P; Pelto-Huikko, M; Peltonen, L; show less...

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