IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena.

@article{Bennett2001IPEXIA,
  title={IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena.},
  author={Craig L. Bennett and Hans D. Ochs},
  journal={Current opinion in pediatrics},
  year={2001},
  volume={13 6},
  pages={533-8}
}
The rare syndrome known as IPEX (OMIM: 304930) is characterized by immune-dysfunction, polyendocrinopathy, enteropathy, and X-linked inheritance. The gene responsible for IPEX maps to Xp11.23-q13.3, a region of the X chromosome that also harbors the Wiskott-Aldrich syndrome gene ( WASP ). IPEX syndrome results from mutations of a unique DNA binding protein gene, FOXP3. Mutations invariably impair the seemingly essential forkhead domain of the protein, which is uniquely located in the carboxyl… CONTINUE READING

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