Intestinal Research

Case Report

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.

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IBD

First aid with color atlas for the use of intestinal ultrasound for inflammatory bowel disease in daily clinical practice: Jun Miyoshi, Hiromu Morikubo, Hiromi Yonezawa, Hideaki Mori, Tadakazu Hisamatsu; Intest Res 2023;21(2):177-188. Published online April 28, 2023; DOI: https://doi.org/10.5217/ir.2023.00003

Abstract PDF PubReader ePub

Intestinal ultrasound (IUS) is a promising modality for the management of inflammatory bowel disease (IBD) and has the potential to particularly contribute in monitoring disease activity, an advantage crucial for optimizing the therapeutic strategy. While many IBD physicians appreciate and are interested in the use of IUS for IBD, currently only a limited number of facilities can employ this examination in daily clinical practice. A lack of guidance is one of the major barriers to introducing this procedure. Standardized protocols and assessment criteria are needed such that IUS for IBD can be considered a feasible, reliable examination in clinical practice, and multicenter clinical studies can be conducted for further clinical evidence of the application of IUS in IBD for best patient care. In this article, we provide an overview of how to start IUS for IBD and introduce basic procedures. Furthermore, IUS images from our practice are provided as a color atlas for understanding sonographic findings and scoring systems. We anticipate this “first aid” article will be helpful to promote IUS for IBD in daily practice.

Citations

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Journal of Gastroenterology.2025; 60(2): 166. CrossRef
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Therapeutic Advances in Gastroenterology.2023;[Epub] CrossRef

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