APECED mutations in the autoimmune regulator (AIRE) gene.

  title={APECED mutations in the autoimmune regulator (AIRE) gene.},
  author={Maarit Heino and P{\"a}rt Peterson and Jun Kudoh and Nobuyoshi Shimizu and Stylianos E. Antonarakis and Hamish S. Scott and Kai J. E. Krohn},
  journal={Human mutation},
  volume={18 3},
Autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED) is a rare recessively inherited disorder caused by mutations in the AIRE (autoimmune regulator) gene. APECED is characterized by variable combinations of endocrine autoimmune diseases such as Addison's disease, hypoparathyroidism, and type 1 diabetes. The AIRE protein contains motifs suggestive of a transcription regulator and can activate transcription of a reporter gene when fused to a heterologous DNA biding domain. In… CONTINUE READING
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