Details of Disease

General Information of Disease (ID: DISB2Y7L)

• Disease Name: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
• Synonyms: autosomal recessive early-onset IBD; autosomal recessive early-onset inflammatory bowel disease; IL10-related early-onset inflammatory bowel disease; IL10-related early-onset IBD
• Definition: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is 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.
• Disease Hierarchy:
  DIS8I9FS: Hereditary disorder of connective tissue
  DISGN23E: Inflammatory bowel disease
  DIS77ACK: Rheumatic disorder
  DISNGCMN: Inborn error of immunity
  DISB2Y7L: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0016542
  UMLS CUI: C4749850
  MedGen ID: 1661450
  Orphanet ID: 238569
  SNOMED CT ID: 771333006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IL10	TTT0Q1F	Supportive	Autosomal recessive	[1]
IL10RB	TTJTRMK	Supportive	Autosomal recessive	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL10	OTIRFRXC	Supportive	Autosomal recessive	[1]
IL10RA	OTOX3D1D	Supportive	Autosomal recessive	[1]
IL10RB	OT5AN6ZR	Supportive	Autosomal recessive	[1]

References

• [1] Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. Gastroenterology. 2012 Aug;143(2):347-55. doi: 10.1053/j.gastro.2012.04.045. Epub 2012 Apr 28.