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Inflammatory Bowel Disease in Primary Immunodeficiencies.

Judith R Kelsen1, Kathleen E Sullivan2

  • 1Divisions of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, ARC 1216-I, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA.

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Early-onset inflammatory bowel disease can stem from single gene defects, particularly primary immunodeficiencies. Diagnosis and management strategies are crucial for affected children.

Keywords:
Crohn’s colitisEarly-onset IBDMonogenic IBDUlcerative colitis

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Area of Science:

  • Immunology
  • Genetics
  • Gastroenterology

Background:

  • Inflammatory bowel disease (IBD) is typically polygenic, involving the microbiome, barrier function, and immune responses.
  • A subset of IBD cases, especially early-onset disease, is linked to single gene defects.
  • Primary immunodeficiencies are increasingly recognized as a cause of early-onset IBD.

Purpose of the Study:

  • To review primary immunodeficiencies associated with early-onset inflammatory bowel disease.
  • To focus on the diagnosis and management of children with IBD and underlying primary immunodeficiencies.

Main Methods:

  • Review of current literature on genetic defects in early-onset IBD.
  • Focus on advancements in next-generation sequencing for identifying single gene defects.
  • Emphasis on clinical aspects of diagnosis and management.

Main Results:

  • Next-generation sequencing has improved the identification of single gene defects in IBD.
  • Immune response genes are the most common category of single gene defects found.
  • Genetic variants associated with IBD highlight the role of host responses in pathogenesis.

Conclusions:

  • Single gene defects, particularly in immune response genes, are significant in early-onset IBD.
  • Understanding these genetic underpinnings is vital for accurate diagnosis.
  • Effective management strategies for pediatric IBD patients with primary immunodeficiencies are essential.