APECED-causing mutations in AIRE reveal the functional domains of the protein.

@article{Halonen2004APECEDcausingMI,
  title={APECED-causing mutations in AIRE reveal the functional domains of the protein.},
  author={Maria Halonen and Hannele Kangas and Taina R{\"u}ppell and Tanja Ilmarinen and Juha Ollila and Meelis Kolmer and Mauno Vihinen and Jorma J. Palvimo and Jani Saarela and Ismo Ulmanen and Petra M Eskelin},
  journal={Human mutation},
  year={2004},
  volume={23 3},
  pages={245-57}
}
A defective form of the AIRE protein causes autoimmune destruction of target organs by disturbing the immunological tolerance of patients with a rare monogenic disease, autoimmune polyendocrinopathy (APE)-candidiasis (C)-ectodermal dystrophy (ED), APECED. Recently, experiments on knockout mice revealed that AIRE controls autoimmunity by regulating the transcription of peripheral tissue-restricted antigens in thymic medullary epithelial cells. Thus, AIRE provides a unique model for molecular… CONTINUE READING

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