National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Autosomal recessive early-onset inflammatory bowel disease


Other Names:
Autosomal recessive early-onset IBD; Autosomal recessive early-onset inflammatory bowel disease; IL10-related early-onset inflammatory bowel disease; Autosomal recessive early-onset IBD; Autosomal recessive early-onset inflammatory bowel disease; IL10-related early-onset inflammatory bowel disease; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; IL10-related early-onset IBD See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 238569

Definition
A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2018

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Autosomal recessive early-onset inflammatory bowel disease. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Autosomal recessive early-onset inflammatory bowel disease:
    European Society for Immunodeficiencies (ESID) Registry
     

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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