title: IL-10 and IL-10 receptor defects in humans.
abstract: Inflammatory bowel disease (IBD), which includes Crohn's disease (CD) and ulcerative colitis (UC), is chronic in nature and is characterized by abdominal pain, diarrhea, bleeding, and malabsorption. It is considered a complex multigenic and multifactorial disorder that results from disturbed interactions between the immune system and commensal bacteria of the gut. Recent work has demonstrated that IBD with an early-onset within the first months of life can be monogenic: mutations in IL-10 or its receptor lead to a loss of IL-10 function and cause severe intractable enterocolitis in infants and small children. Both IL-10 and IL-10 receptor deficiency can be successfully treated by hematopoietic stem cell transplantation.
authors.affiliation: Institute of Medical Microbiology and Hygiene, University Hospital Freiburg, Germany.
authors.forename: Erik-Oliver
authors.initials: EO
authors.lastname: Glocker
authors.forename: Daniel
authors.initials: D
authors.lastname: Kotlarz
authors.forename: Christoph
authors.initials: C
authors.lastname: Klein
authors.forename: Neil
authors.initials: N
authors.lastname: Shah
authors.forename: Bodo
authors.initials: B
authors.lastname: Grimbacher
mesh_terms: D003093:Colitis, Ulcerative / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D003424:Crohn Disease / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics / Q000276:immunology* / Q000378:metabolism; D016753:Interleukin-10 / Q000235:genetics* / Q000378:metabolism; D007378:Interleukins / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D009154:Mutation; D010641:Phenotype; D053701:Receptors, Interleukin-10 / Q000235:genetics* / Q000378:metabolism; D015398:Signal Transduction; D000097043:Interleukin-22
chemical_list: D016753:Interleukin-10; D007378:Interleukins; D053701:Receptors, Interleukin-10; D000097043:Interleukin-22