/IL10-related early-onset inflammatory bowel disease

IL10-related early-onset inflammatory bowel disease

Rare Disease

MONDO:0016542

Also Known As

IL10-related early-onset IBDIL10-related early-onset inflammatory bowel diseaseimmune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndromeautosomal recessive early-onset IBDautosomal recessive early-onset inflammatory bowel 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.