Brief Communication | Published:

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

Nature Genetics volume 27, pages 2021 (2001) | Download Citation

Subjects

Abstract

IPEX is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance (MIM 304930). We present genetic evidence that different mutations of the human gene FOXP3, the ortholog of the gene mutated in scurfy mice (Foxp3), causes IPEX syndrome. Recent linkage analysis studies mapped the gene mutated in IPEX to an interval of 17–20-cM at Xp11.23–Xq13.3 (refs. 1,2).

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

References

  1. 1.

    et al. Am. J. Med. Genet. 90, 390–397 (2000).

  2. 2.

    et al. Am. J. Hum. Genet. 66, 461–468 (2000).

  3. 3.

    , , , & Proc. Natl. Acad. Sci. USA 87, 2433–2437 (1990).

  4. 4.

    et al. Nature Genet. 27, 68–73 (2001).

  5. 5.

    , & J. Pediatr. 100, 731–737 (1982).

  6. 6.

    , & Genes Dev. 14, 142–146 (2000).

  7. 7.

    et al. Nature Genet. 19, 399–401 (1998).

  8. 8.

    et al. Am. J. Hum. Genet. 63, 1316–1328 (1998).

  9. 9.

    et al. Nature Genet. 19, 140–147 (1998).

  10. 10.

    et al. Eur. J. Hum. Genet. 8, 71–74 (2000).

  11. 11.

    et al. J. Immunol. 162, 2546–2554 (1999).

  12. 12.

    et al. J. Immunol. 164, 2915–2923 (2000).

Download references

Acknowledgements

We thank the members of all three families for participation; I.P. Blair for advice and critical review of the manuscript; and M. McEuen for technical assistance. This work was supported by grants from the Jeffrey Modell Foundation, the Immunodeficiency Foundation, NIH grant HD17427 and the DiJoria Wiskott–Aldrich research fund.

Author information

Author notes

    • Craig L. Bennett
    •  & Jacinda Christie

    These authors contributed equally to this work.

Affiliations

  1. Division of Genetics and Development, Seattle, Washington, USA.

    • Craig L. Bennett
    •  & Phillip F. Chance
  2. Division of Immunology, Infectious Disease and Rheumatology, Department of Pediatrics, University of Washington, Seattle, Washington, USA.

    • Jacinda Christie
    •  & Hans D. Ochs
  3. Celltech Chiroscience, Inc., Bothell, Washington, USA.

    • Fred Ramsdell
    •  & Mary E. Brunkow
  4. Department of Pediatrics, University of Alabama, Birmingham, Alabama, USA.

    • Polly J. Ferguson
  5. Department of Pediatrics, Steele Memorial Children's Research Center, University of Arizona, Tucson, Arizona, USA.

    • Luke Whitesell
  6. Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA.

    • Thaddeus E. Kelly
    •  & Frank T. Saulsbury

Authors

  1. Search for Craig L. Bennett in:

  2. Search for Jacinda Christie in:

  3. Search for Fred Ramsdell in:

  4. Search for Mary E. Brunkow in:

  5. Search for Polly J. Ferguson in:

  6. Search for Luke Whitesell in:

  7. Search for Thaddeus E. Kelly in:

  8. Search for Frank T. Saulsbury in:

  9. Search for Phillip F. Chance in:

  10. Search for Hans D. Ochs in:

Corresponding author

Correspondence to Hans D. Ochs.

About this article

Publication history

Received

Accepted

Published

DOI

https://doi.org/10.1038/83713

Further reading