The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
Publication
, Journal Article
Bennett, CL; Christie, J; Ramsdell, F; Brunkow, ME; Ferguson, PJ; Whitesell, L; Kelly, TE; Saulsbury, FT; Chance, PF; Ochs, HD
Published in: Nature genetics
January 2001
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.
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Published In
Nature genetics
DOI
EISSN
1546-1718
ISSN
1061-4036
Publication Date
January 2001
Volume
27
Issue
1
Start / End Page
20 / 21
Related Subject Headings
- X Chromosome
- Syndrome
- Sequence Alignment
- Protein-Losing Enteropathies
- Polyendocrinopathies, Autoimmune
- Phenotype
- Pedigree
- Mutation
- Molecular Sequence Data
- Mice
Citation
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MLA
NLM
Bennett, C. L., Christie, J., Ramsdell, F., Brunkow, M. E., Ferguson, P. J., Whitesell, L., … Ochs, H. D. (2001). The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nature Genetics, 27(1), 20–21. https://doi.org/10.1038/83713
Bennett, C. L., J. Christie, F. Ramsdell, M. E. Brunkow, P. J. Ferguson, L. Whitesell, T. E. Kelly, F. T. Saulsbury, P. F. Chance, and H. D. Ochs. “The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.” Nature Genetics 27, no. 1 (January 2001): 20–21. https://doi.org/10.1038/83713.
Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nature genetics. 2001 Jan;27(1):20–1.
Bennett, C. L., et al. “The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.” Nature Genetics, vol. 27, no. 1, Jan. 2001, pp. 20–21. Epmc, doi:10.1038/83713.
Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nature genetics. 2001 Jan;27(1):20–21.
Published In
Nature genetics
DOI
EISSN
1546-1718
ISSN
1061-4036
Publication Date
January 2001
Volume
27
Issue
1
Start / End Page
20 / 21
Related Subject Headings
- X Chromosome
- Syndrome
- Sequence Alignment
- Protein-Losing Enteropathies
- Polyendocrinopathies, Autoimmune
- Phenotype
- Pedigree
- Mutation
- Molecular Sequence Data
- Mice