Professional
Technical
IVT
IPEX syndrome
Pronunciation: EYE-peks
A rare X-linked immunodeficiency characterized by immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance.
Full Definition
IPEX syndrome (Immunodysregulation Polyendocrinopathy Enteropathy X-linked) is a severe inherited immunodeficiency caused by mutations in the FOXP3 gene. It typically presents in male infants with severe diarrhea, diabetes mellitus, eczematous dermatitis, and failure to thrive. The condition results from defective regulatory T-cell function, leading to autoimmunity and immune dysregulation. Without treatment, it is usually fatal in early childhood.
Usage
Usage note: Always capitalize as IPEX, not Ipex or ipex.
In Context
- "The infant's presentation of severe enteropathy and diabetes mellitus prompted genetic testing for IPEX syndrome." — Clinical case report
- "IPEX syndrome should be considered in male neonates with intractable diarrhea and endocrine abnormalities." — Diagnostic guidelines
Also known as
Immunodysregulation Polyendocrinopathy Enteropathy X-linked
Don't confuse with
POEMS syndrome
ALPS