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Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor
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Journal Article
Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor
2009
Overview
Genetic analyses showed that mutations affecting the interleukin-10 receptor are associated with early-onset colitis. Further molecular analyses showed that the mutations abrogated interleukin-10 signaling. Treatment of one of the affected children by means of allogeneic hematopoietic stem-cell transplantation was successful.
Genetic analyses showed that mutations affecting the interleukin-10 receptor are associated with early-onset colitis. Treatment of an affected child by means of allogeneic hematopoietic stem-cell transplantation was successful.
Inflammatory bowel disease is a heterogeneous group of disorders, classified as Crohn's disease, ulcerative colitis, and indeterminate colitis.
1
,
2
In most patients, these disorders are manifested in adolescence or adulthood; however, they may present in infancy and may be inherited as an autosomal recessive trait.
3
–
6
The genetic causes of inflammatory bowel disease are only partly understood. Studies in transgenic murine models
7
and genomewide genetic-linkage and association studies have provided insights into the genetic complexity underlying these inflammatory conditions.
8
Investigators using these approaches have implicated several genes in the pathogenesis of inflammatory bowel disease; the identity of these genes suggests . . .
Publisher
Massachusetts Medical Society
Subject
/ Biological and medical sciences
/ Female
/ Gastroenterology. Liver. Pancreas. Abdomen
/ Humans
/ Infant
/ Inflammatory Bowel Diseases - genetics
/ Inflammatory Bowel Diseases - therapy
/ Interleukin-10 Receptor alpha Subunit - chemistry
/ Interleukin-10 Receptor alpha Subunit - genetics
/ Interleukin-10 Receptor beta Subunit - chemistry
/ Interleukin-10 Receptor beta Subunit - genetics
/ Male
/ Ostomy
/ Pedigree
/ Polymorphism, Single Nucleotide
/ Proteins
/ Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
/ Studies
