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An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

Nature Genetics volume 17, pages 399–403 (1997)Cite this article

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the only described systemic autoimmune disease with established monogenic background, and the first autoimmune disorder localized outside the major histocompatibility complex (MHC) region. The primary biochemical defect in APECED is unknown. We have isolated a novel gene, AIRE, encoding for a putative nuclear protein featuring two PHD-type zinc-finger motifs, suggesting its involvement in transcriptional regulation. Five mutations in AIRE are reported in individuals with this disorder. This is the first report of a single-gene defect causing a systemic human autoimmune disease, providing a tool for exploring the molecular basis of autoimmunity.

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Author notes

  1. Johanna Aaltonen and Petra Björses: J.A. and P.B. contributed equally to this work.

Authors and Affiliations

  1. Department of Human Molecular Genetics, Institute of Biomedicine, University of Helsinki and National Public Health Institute, Mannerheimintie 166, Fin-00300, Helsinki, Finland

    Johanna Aaltonen, Petra Björses & Leena Peltonen

  2. Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland

    Jaakko Perheentupa

  3. Department of Clinical Chemistry and Biomedicine, Unversity of Helsinki, Helsinki, Finland

    Nina Horelli–Kuitunen & Aarno Palotie

  4. Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D-14195, Berlin, Germany

    Yeon Su Lee, Fiona Francis, Steffen Henning, Cora Thiel, Hans Leharach & Marie–Laure Yaspo

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  1. Johanna Aaltonen
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Correspondence to Leena Peltonen or Marie–Laure Yaspo.

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Aaltonen, J., Björses, P., Perheentupa, J. et al. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 17, 399–403 (1997). https://doi.org/10.1038/ng1297-399

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