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Immune Dysregulation Associated with Very Early-Onset Inflammatory Bowel Disease

  • Judith KelsenEmail author
  • Kathleen Sullivan
Chapter

Abstract

Inflammatory bowel disease (IBD) is a multifactorial disease caused by dysregulated immune responses to commensal or pathogenic microbes in the intestine, resulting in chronic intestinal inflammation. An emerging population of patients with IBD occurring before the age of 5 represent a unique form of disease, termed very early-onset (VEO)-IBD, which is phenotypically and genetically distinct from older-onset IBD. VEO-IBD is associated with increased disease severity, aggressive progression, and poor responsiveness to most conventional therapies. Here we discuss the phenotypic nature of VEO-IBD, the recent identification of novel gene variants associated with disease, and the functional immunologic studies interrogating the contribution of specific genetic variants to the development of chronic intestinal inflammation.

Keywords

VEO-IBD Whole exome sequencing Immunodeficiency 

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Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  1. 1.Division of Gastroenterology, Hepatology and NutritionThe Children’s Hospital of PhiladelphiaPhiladelphiaUSA
  2. 2.Division of Allergy and ImmunologyThe Children’s Hospital of PhiladelphiaPhiladelphiaUSA

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