Clinical and molecular findings in IPEX syndrome.
IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome) is a rare disorder which usually results in death in early infancy or childhood. Clinical awareness remains the cornerstone of diagnosis, and provided that the diagnosis is entertained, mutation analysis for FOXP3 gene mutations can be confirmatory. Two new patients in whom IPEX was diagnosed retrospectively are reported.
Myers
A K
AK
National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
Perroni
L
L
Costigan
C
C
Reardon
W
W
D001483:Base Sequence; D051858:Forkhead Transcription Factors / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007154:Immune System Diseases / Q000175:diagnosis / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome
C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors