The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
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.
Bennett
C L
CL
Division of Genetics and Development, Department of Pediatrics, University of Washington, Seattle, USA.
Christie
J
J
Ramsdell
F
F
Brunkow
M E
ME
Ferguson
P J
PJ
Whitesell
L
L
Kelly
T E
TE
Saulsbury
F T
FT
Chance
P F
PF
Ochs
H D
HD
D000595:Amino Acid Sequence; D000818:Animals; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D005260:Female; D051858:Forkhead Transcription Factors; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics*; D011504:Protein-Losing Enteropathies / Q000235:genetics*; D016415:Sequence Alignment; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*
D004268:DNA-Binding Proteins; C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors; C498833:Foxp3 protein, mouse