IPEX Syndrome (Immune Dysregulation, Polyendocrinopathy, Autoimmune Enteropathy, X-linked)
Clinical
- Usually presents <6 months of age
- Intractable diarrhea
- Results in hypoalbuminemia
- Non-responsive to TPN and bowel rest
- High mortality if not treated
- Extra-intestinal associations frequently multiple
- Insulin dependent diabetes mellitus
- Hypothyroidism
- Membranous glomerulonephritis
- Sclerosing cholangitis
- Autoimmune hepatitis
- Coombs+ hemolytic anemia
- Other (non-intestinal) autoantibodies
- Anti-mitochondrial antibody
- Anti-nuclear antibody
- Anti-parietal cell antibody
