Anti-TNF-refractory inflammatory bowel disease associated with a novel XIAP frameshift variant successfully treated with ustekinumab. (PubMed, Clin J Gastroenterol) - Sep 23, 2026 - "This case illustrates a distinct phenotype of XIAP-associated IBD, characterized by resistance to TNF inhibition and susceptibility to IL-12/23 blockade using UST, associated with a novel pathogenic XIAP variant. Rather than demonstrating treatment efficacy alone, these findings underscore the value of integrating genetic diagnosis with treatment response to gain insight into disease-driving inflammatory pathways and to guide individualized management strategies in monogenic IBD."
Journal • Bone Marrow Transplantation • Crohn's disease • Gastroenterology • Gastrointestinal Disorder • Immunology • Inflammation • Inflammatory Bowel Disease • Oncology • Pediatrics • Transplantation • IL12A • XIAP
|
|
Hidetaka Eguchi; Hiromichi Shoji; Keisuke Jimbo; Natsuki Ito; Takahiro Kudo; Toshiaki Shimizu; Yasushi Okazaki
|