uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
Aire deficient mice develop multiple features of APECED phenotype and showaltered immune response
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, Ludwig Institute for Cancer Research.
Show others and affiliations
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
Abstract [en]

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.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-64543DOI: 10.1093/hmg/11.4.397PubMedID: 11854172OAI: oai:DiVA.org:uu-64543DiVA: diva2:92454
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2013-11-06Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Kämpe, Olle
By organisation
Ludwig Institute for Cancer Research
In the same journal
Human Molecular Genetics
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 144 hits
ReferencesLink to record
Permanent link

Direct link