Interleukin-10 and interleukin-10-receptor defects in inflammatory bowel disease.
Inflammatory bowel disease (IBD) is a chronic inflammatory disease characterized by abdominal pain, bloody diarrhoea, and malabsorption leading to weight loss. It is considered the result of inadequate control of an excessive reaction of the immune system to the resident flora of the gut. Like other primary immunodeficiencies, IL-10 and IL-10 receptor (IL10R) deficiency present with IBD and demonstrate the sensitivity of the intestine to any changes of the immune system. Both IL-10 and IL10R deficiency cause severe early-onset enterocolitis and can be successfully treated by hematopoietic stem cell transplantation (HSCT).
Department of Paediatric Gastroenterology, Great Ormond Street Hospital, University College London, London, UK.
Neil
N
Shah
Jochen
J
Kammermeier
Mamoun
M
Elawad
Erik-Oliver
EO
Glocker
D003937:Diagnosis, Differential; D004760:Enterocolitis / Q000276:immunology; D005260:Female; D041981:Gastrointestinal Tract / Q000276:immunology*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000175:diagnosis* / Q000276:immunology / Q000628:therapy*; D007371:Interferon-gamma / Q000378:metabolism; D016753:Interleukin-10 / Q000172:deficiency* / Q000235:genetics; D007378:Interleukins / Q000378:metabolism; D008297:Male; D009154:Mutation; D053701:Receptors, Interleukin-10 / Q000172:deficiency* / Q000235:genetics; D050796:STAT3 Transcription Factor / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics; D000097043:Interleukin-22
D007371:Interferon-gamma; D016753:Interleukin-10; D007378:Interleukins; D053701:Receptors, Interleukin-10; D050796:STAT3 Transcription Factor; D000097043:Interleukin-22; C406767:IL26 protein, human; C494086:STAT3 protein, human