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Monogenic inflammatory bowel disease with STXBP2 mutations is not resolved by hematopoietic stem cell transplantation but can be alleviated via immunosuppressive drug therapy

Authors :
Hiroki Fujikawa
Hirotaka Shimizu
Ryusuke Nambu
Ichiro Takeuchi
Toshihiro Matsui
Kenichi Sakamoto
Yoshihiro Gocho
Takayuki Miyamoto
Takahiro Yasumi
Takako Yoshioka
Katsuhiro Arai
Source :
Clinical Immunology. 246:109203
Publication Year :
2023
Publisher :
Elsevier BV, 2023.

Abstract

STXBP2, encoding syntaxin-binding protein 2, is involved in intracellular organelle trafficking and is associated with familial hemophagocytic lymphohistiocytosis type 5. Although STXBP2 mutations reportedly cause monogenic inflammatory bowel disease, the clinical course and underlying pathogenic mechanisms remain unclear. We identified a novel mutation in STXBP2 [c.1197delC, p.Ala400fs] in a boy with congenital intractable diarrhea and hemophagocytic lymphohistiocytosis (HLH). HLH was treated with intravenous prednisolone, cyclosporine, and dexamethasone palmitate. Hematopoietic stem cell transplantation (HSCT) along with prophylaxis for graft-versus-host-disease was performed at 5 months of age. Additionally, colonoscopies done before and after HSCT showed mild colitis with cryptitis. The patient showed elevated fecal calprotectin levels and persistent diarrhea even after HSCT and required partial parenteral nutrition. While anti-inflammatory treatment reduced diarrhea, it was not completely normalized even after HSCT, suggesting that the pathogenesis of inflammatory bowel disease associated with STXBP2 mutations involves both hyperinflammation and functional epithelial barrier defects.

Subjects

Subjects :
Immunology
Immunology and Allergy

Details

ISSN :
15216616
Volume :
246
Database :
OpenAIRE
Journal :
Clinical Immunology
Accession number :
edsair.doi.dedup.....9aa9034c867aced4cf72d8899857900e
Full Text :
https://doi.org/10.1016/j.clim.2022.109203