Infantile enterocolitis and monogenic inflammatory bowel disease


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Inclusion Criteria

  • Chronic inflammatory bowel disease and inflammatory bowel disease like intestinal inflammation
  • Age of onset intestinal inflammation less than complete 2 years of age.
  • Histology confirmed intestinal inflammation with first endoscopy (less than 2.5 year of age).

Exclusion Criteria

  • Acute infectious gastroenteritis/enterocolitis due to common pathogens (Rotavirus, Norovirus, Salmonella etc.)

Prior genetic testing guidance

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  • In case of enterocolitis less than 3 month of age IL10, IL10RA and IL10RB signalling defects should be excluded.
  •  In case of enterocolitis with infantile diabetes and autoimmunity IPEX (FOXP3) should be excluded.

Closing Statement

These requirements will be kept under continual review during the Main Programme and may be subject to change.

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