CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease


Magg T., Shcherbina A., Arslan D. , Desai M., Wall S., Mitsialis V., ...More

INFLAMMATORY BOWEL DISEASES, vol.25, no.11, pp.1788-1795, 2019 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 25 Issue: 11
  • Publication Date: 2019
  • Doi Number: 10.1093/ibd/izz103
  • Title of Journal : INFLAMMATORY BOWEL DISEASES
  • Page Numbers: pp.1788-1795
  • Keywords: immunodeficiency, very early onset inflammatory bowel diseases, CARMIL2, IMMUNE DYSREGULATION, T-CELL, MUTATIONS, PROTEIN, COSTIMULATION, ENTEROPATHY, INDUCTION, HUMANS, RLTPR, LRBA

Abstract

Background: Children with very early onset inflammatory bowel diseases (VEO-IBD) often have a refractory and severe disease course. A significant number of described VEO-IBD-causing monogenic disorders can be attributed to defects in immune-related genes. The diagnosis of the underlying primary immunodeficiency (PID) often has critical implications for the treatment of patients with IBD-like phenotypes.