Review
Open access
Oct 2026
Integrated genetic and functional analyses reveal the pathogenic effects of a novel STXBP3 variant in very-early-onset inflammatory bowel disease with immunodeficiency
Very early onset inflammatory bowel disease (VEOIBD) is frequently driven by monogenic defects. Pathogenic variants in the syntaxin-binding protein 3 ( STXBP3 ) gene have been implicated in VEOIBD; however, the relationship between specific variant types and clinical manifestations remains incompletely understo...
Chun Pan, Ping Zhang, Wen-Juan Tang et al.
· Frontiers in Immunology · 0 citations