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Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

Disease definition

A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.


Classification level: Disorder
  • Synonym(s):
    • IL10-related early-onset IBD
    • IL10-related early-onset inflammatory bowel disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: K52.8
  • OMIM: 612567  613148
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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