Bennett C L, Christie J, Ramsdell F, Brunkow M E, Ferguson P J, Whitesell L, Kelly T E, Saulsbury F T, Chance P F, Ochs H D
Division of Genetics and Development, Department of Pediatrics, University of Washington, Seattle, USA.
Nat Genet. 2001 Jan;27(1):20-1. doi: 10.1038/83713.
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.
免疫失调、多内分泌腺病、肠病伴X连锁遗传综合征（IPEX，MIM 304930）是一种致命性疾病。我们提供了遗传学证据，表明人类基因FOXP3（scurfy小鼠中突变基因Foxp3的直系同源基因）的不同突变可导致IPEX综合征。最近的连锁分析研究将IPEX中突变的基因定位于Xp11.23-Xq13.3区间，跨度为17 - 20厘摩。
