Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.

ABSTRACT:

Background

The molecular cause of inflammatory bowel disease is largely unknown.

Methods

We performed genetic-linkage analysis and candidate-gene sequencing on samples from two unrelated consanguineous families with children who were affected by early-onset inflammatory bowel disease. We screened six additional patients with early-onset colitis for mutations in two candidate genes and carried out functional assays in patients' peripheral-blood mononuclear cells. We performed an allogeneic hematopoietic stem-cell transplantation in one patient.

Results

In four of nine patients with early-onset colitis, we identified three distinct homozygous mutations in genes IL10RA and IL10RB, encoding the IL10R1 and IL10R2 proteins, respectively, which form a heterotetramer to make

SUBMITTER: Glocker EO 

PROVIDER: S-EPMC2787406 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature