ORPHA:391487
STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Infancy
- Estimated prevalence
- <1 / 1 000 000 (Europe)
- Rarity class
- <1 / 1 000 000
ORPHA:391487 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Functional abnormality of the bladder
- Growth delay
- Abnormal intestine morphology
- Chronic mucocutaneous candidiasis
- Delayed skeletal maturation
- Recurrent upper respiratory tract infections