Intestinal Research

Inflammatory bowel disease in a young female patient with a novel de novo TRAF3 frameshift variant responsive to ustekinumab: a case report: Ichiro Takeuchi, Kosuke Taniguchi, Katsuhiro Arai, Toru Uchiyama, Miho Terao, Asuka Hori, Toshinao Kawai, Takako Yoshioka, Reiko Kyodo, Hirotaka Shimizu, Satoshi Fujita, Kenichiro Motomura, Yuka Okazaki, Takashi Ishikawa, Masao Ogura, Kentaro Hayashi, Kenji Matsumoto, Shuji Takada, Masafumi Onodera, Hideaki Morita, Kenichiro Hata; Received November 15, 2024 Accepted March 4, 2025 Published online April 4, 2025; DOI: https://doi.org/10.5217/ir.2024.00190 [Epub ahead of print]

Abstract PDF Supplementary Material PubReader ePub: Tumor necrosis factor receptor-associated factor 3 (TRAF3) is an anti-inflammatory molecule that negatively regulates the non-canonical nuclear factor-κB pathway. Although TRAF3 haploinsufficiency (TRAF3 HI) can influence innate and adaptive immune cells, its effect on inflammatory bowel disease (IBD) development remains unclear. Here, we report the first case of severe early-onset IBD with a novel TRAF3 variant leading to HI, successfully treated with ustekinumab. A 6-year-old girl with a recurrent parotitis, otitis media, tonsilitis, and atopic dermatitis developed IBD involving the stomach, small intestine, and colon. At diagnosis, the immunoglobulin (Ig)G and IgA levels were relatively high, and lymphocyte subsets showed increased counts of plasmablasts, class-switch recombination B cells, and circulating T-follicular helper cells. Treatment with azathioprine and infliximab failed to maintain remission marked by several relapses accompanied by erythema nodosum and arthritis; however, ustekinumab, an anti-interleukin (IL)-12/23p40 antibody, led to long-term clinical remission, normalizing the Ig level and reducing abnormal lymphocyte counts. Whole-exome sequencing revealed a novel heterozygous mutation in TRAF3 [p.(Pro487Leufs*8)], resulting in TRAF3 under-expression. Our case may highlight the contribution of TRAF3 HI to the development of IBD and provide insights into IBD pathophysiology, suggesting the involvement of the IL-12/23-T-follicular helper cell pathway affected by genetic mutations.

1,213 View
149 Download

IBD

Combined eosinophilic gastroenteritis and ulcerative colitis successfully treated by vedolizumab: a case report: Hironobu Takedomi, Kayoko Fukuda, Suma Inoue, Nanae Tsuruoka, Yasuhisa Sakata, Shigehisa Aoki, Motohiro Esaki; Intest Res 2025;23(1):107-111. Published online August 29, 2024; DOI: https://doi.org/10.5217/ir.2024.00013

Abstract PDF PubReader ePub: A 47-year-old man with over 10 years’ duration of ulcerative colitis treated by 5-aminosalicylic acid and intermittent topical steroids complained of acute epigastric pain. Esophagogastroduodenoscopy revealed diffuse mucosal edema with patchy redness, multiple erosions and nodularity of the stomach. Bioptic examination revealed marked eosinophilic infiltration, confirming the diagnosis of eosinophilic gastroenteritis. Systemic steroid therapy was initiated, whereas his ulcerative colitis and eosinophilia recurred when tapering the steroid. Addition of azathioprine was ineffective, and we subsequently started vedolizumab for eosinophilic gastroenteritis and ulcerative colitis. The medication effectively improved his abdominal symptoms and esophagogastroduodenoscopy and ileocolonoscopy 1 year later revealed endoscopic improvement of both diseases with histologically decreased level of eosinophilic infiltration. Considering that eosinophils also express α4β7 integrins, vedolizumab can be a possible therapeutic candidate for eosinophilic gastroenteritis as well as ulcerative colitis.

2,462 View
153 Download

Miscellaneous

Endoscopic balloon dilations for strictures of rectum, ileocecal valve and duodenum in a patient with X-linked inhibitor of apoptosis deficiency: a case report: Shinsuke Otagiri, Takehiko Katsurada, Kensuke Sakurai, Junichi Sugita, Naoya Sakamoto; Intest Res 2022;20(2):274-277. Published online February 8, 2022; DOI: https://doi.org/10.5217/ir.2021.00029

Abstract PDF PubReader ePub: X-linked inhibitor of apoptosis (XIAP) deficiency is a rare primary immunodeficiency and gastrointestinal (GI) lesions in XIAP deficiency are similar to Crohn’s disease. For patients with Crohn’s disease, endoscopic balloon dilation (EBD) is known to be a standard procedure for intestinal strictures including upper GI tract. However, there are no articles which mention the efficacy of EBDs for the strictures in upper GI tract in patients with XIAP deficiency. Herein, we describe an 18-year-old male with XIAP deficiency in whom EBDs for the rectum, ileocecal valve (ICV), and duodenum were performed. Before hematopoietic stem cell transplantation (HSCT), GI endoscopy revealed strictures of the rectum, ICV and duodenum with active ulcers. Although these ulcers healed after HSCT, the strictures progressed. Therefore, we performed EBDs for the strictures of the rectum, ICV, and duodenum. In contrast studies, we did not find any other strictures in the small intestine. Throughout the patient’s clinical course, no complications of EBD occurred. He started eating after EBDs, but abdominal symptoms did not relapse without any dietary restrictions. Our case suggests that EBD could be an effective and safe procedure for intestinal strictures including upper GI tract after HSCT in patients with XIAP deficiency.

5,232 View
273 Download

Search