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Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Disease definition

Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.


  • Synonym(s):
    • Autoimmune enteropathy type 1
    • IPEX
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E31.0
  • OMIM: 304790
  • UMLS: -
  • MeSH: -
  • GARD: 1850
  • MedDRA: -

Detailed information

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