Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

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

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).

Your institute does not have access to this article

Relevant articles

Open Access articles citing this article.

Access options

Buy article

Get time limited or full article access on ReadCube.

$32.00

All prices are NET prices.

Figure 1: IPEX pedigrees examined and segregating FOXP3 mutations are shown.

References

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

    CAS  Article  PubMed  Google Scholar 

  2. Bennett, C.L. et al. Am. J. Hum. Genet. 66, 461–468 (2000).

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  3. Lyon, M.F., Peters, J., Glenister, P.H., Ball, S. & Wright, E. Proc. Natl. Acad. Sci. USA 87, 2433–2437 (1990).

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  4. Brunkow, M.E. et al. Nature Genet. 27, 68–73 (2001).

    CAS  Article  PubMed  Google Scholar 

  5. Powell, B.R., Buist, N.R. & Stenzel, P. J. Pediatr. 100, 731–737 (1982).

    CAS  Article  PubMed  Google Scholar 

  6. Kaestner, K.H., Knochel, W. & Martinez, D.E. Genes Dev. 14, 142–146 (2000).

    CAS  PubMed  Google Scholar 

  7. Clifton Bligh, R.J. et al. Nature Genet. 19, 399–401 (1998).

    CAS  Article  PubMed  Google Scholar 

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

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  9. Nishimura, D.Y. et al. Nature Genet. 19, 140–147 (1998).

    CAS  Article  PubMed  Google Scholar 

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

    CAS  Article  PubMed  Google Scholar 

  11. Clark, L.B. et al. J. Immunol. 162, 2546–2554 (1999).

    CAS  PubMed  Google Scholar 

  12. Yorgin, P.D. et al. J. Immunol. 164, 2915–2923 (2000).

    CAS  Article  PubMed  Google Scholar 

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

Authors and Affiliations

Authors

Corresponding author

Correspondence to Hans D. Ochs.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Bennett, C., Christie, J., Ramsdell, F. et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 27, 20–21 (2001). https://doi.org/10.1038/83713

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/83713

Further reading

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing