The Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX) Is Caused by Mutations of FOXP3

Nat Genet. 2001 Jan;27(1):20-1. doi: 10.1038/83713.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Female
  • Forkhead Transcription Factors
  • Genetic Linkage / genetics*
  • Humans
  • Male
  • Mice
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Phenotype
  • Polyendocrinopathies, Autoimmune / genetics*
  • Protein-Losing Enteropathies / genetics*
  • Sequence Alignment
  • Syndrome
  • X Chromosome / genetics*

Substances

  • DNA-Binding Proteins
  • FOXP3 protein, human
  • Forkhead Transcription Factors
  • Foxp3 protein, mouse