IL-10 and IL-10 receptor defects in humans

Ann N Y Acad Sci. 2011 Dec;1246:102-7. doi: 10.1111/j.1749-6632.2011.06339.x.


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.

Publication types

  • Review

MeSH terms

  • Colitis, Ulcerative / genetics
  • Colitis, Ulcerative / immunology
  • Colitis, Ulcerative / metabolism
  • Crohn Disease / genetics
  • Crohn Disease / immunology
  • Crohn Disease / metabolism
  • Humans
  • Inflammatory Bowel Diseases / genetics
  • Inflammatory Bowel Diseases / immunology*
  • Inflammatory Bowel Diseases / metabolism
  • Interleukin-10 / genetics*
  • Interleukin-10 / metabolism
  • Interleukins / genetics
  • Interleukins / immunology
  • Interleukins / metabolism
  • Mutation
  • Phenotype
  • Receptors, Interleukin-10 / genetics*
  • Receptors, Interleukin-10 / metabolism
  • Signal Transduction


  • Interleukins
  • Receptors, Interleukin-10
  • Interleukin-10
  • interleukin-22