X-linked autoimmunity-immunodeficiency syndrome; immunodeficiency, polyendocrinopathy, enteropathy, X-linked (IPEX)
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Genetics
- associated with defects in FOXP3
Clinical manifestations
- neonatal onset insulin-dependent diabetes mellitus
- infections
- secretory diarrhea
- thrombocytopenia
- anemia
- eczema
- usually lethal in infancy