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

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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).

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

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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.

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Author notes

  1. Craig L. Bennett and Jacinda Christie: These authors contributed equally to this work.

Authors and Affiliations

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

    Craig L. Bennett & Phillip F. Chance

  2. Division of Immunology, Department of Pediatrics, Infectious Disease and Rheumatology, 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

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  1. Craig L. Bennett
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  2. Jacinda Christie
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  3. Fred Ramsdell
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  4. Mary E. Brunkow
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  5. Polly J. Ferguson
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  6. Luke Whitesell
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  7. Thaddeus E. Kelly
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  8. Frank T. Saulsbury
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  9. Phillip F. Chance
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  10. Hans D. Ochs
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Corresponding author

Correspondence to Hans D. Ochs.

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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

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

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