INFLAMMATORY BOWEL DISEASES, vol.25, no.11, pp.1788-1795, 2019 (Journal Indexed in SCI)
Article / Article
Title of Journal :
INFLAMMATORY BOWEL DISEASES
immunodeficiency, very early onset inflammatory bowel diseases, CARMIL2, IMMUNE DYSREGULATION, T-CELL, MUTATIONS, PROTEIN, COSTIMULATION, ENTEROPATHY, INDUCTION, HUMANS, RLTPR, LRBA
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.