IL10-related early-onset inflammatory bowel disease
Findings
No curated finding names IL10-related early-onset inflammatory bowel disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0016542), read 2026-09-29. CC BY 4.0.
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IL10HGNC:5962
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2025
- IL10RAHGNC:5964
- Supportive · Orphanet · Autosomal recessive · 2021
- IL10RBHGNC:5965
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: IL10-related early-onset inflammatory bowel disease
- Also called
- IL10-related early-onset IBDimmune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome