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

Ramsey, C (author)

Winqvist, Ola (author): Uppsala universitet,Ludwiginstitutet för cancerforskning

Puhakka, L (author)

Halonen, M (author)

Moro, A (author)

Kämpe, Olle (author): Uppsala universitet,Ludwiginstitutet för cancerforskning

Eskelin, P (author)

Pelto-Huikko, M (author)

Peltonen, L (author)

(creator_code:org_t)

Oxford University Press (OUP), 2002
2002
English.
In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 11:4, s. 397-409

Related links:: https://academic.oup...; show more...; https://urn.kb.se/re...; https://doi.org/10.1...; show less...

Abstract Subject headings

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.

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...

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.