Characteristics of monogenic inflammatory bowel disease in very early-onset cases: a Japanese multicenter registry study

Natsuki Ito; Takahiro Kudo; Keisuke Jimbo; Ryusuke Nambu; Fumihiko Kakuta; Tatsuki Mizuochi; Takeshi Saito; Shin-ichiro Hagiwara; Naomi Iwata; Nao Tachibana; Hideki Kumagai; Takashi Ishige; Toshifumi Yodoshi; Mikihiro Inoue; Shigeo Nishimata; Hitoshi Tajiri; Eitaro Hiejima; Mika Sasaki; Sawako Kato; Hirotaka Shimizu; Yuri Hirano; Toshiaki Shimizu; Katsuhiro Arai; Japanese Pediatric Inflammatory Bowel Disease Registry (JPIBD-R)

doi:10.5217/ir.2025.00203

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Characteristics of monogenic inflammatory bowel disease in very early-onset cases: a Japanese multicenter registry study

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Characteristics of monogenic inflammatory bowel disease in very early-onset cases: a Japanese multicenter registry study

Natsuki Ito, Takahiro Kudo, Keisuke Jimbo, Ryusuke Nambu, Fumihiko Kakuta, Tatsuki Mizuochi, Takeshi Saito, Shin-ichiro Hagiwara, Naomi Iwata, Nao Tachibana, …

INTESTINAL RESEARCH

02/24/2026

DOI: 10.5217/ir.2025.00203

PMID: 41731989

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Abstract

Background/Aims: Very early-onset inflammatory bowel disease (VEO-IBD), defined as IBD diagnosed before 6 years of age, is highly influenced by genetic factors. Monogenic IBD is a type of enterocolitis caused by a single pathogenic variant. However, information on Asian patients with VEO-IBD and monogenic IBD is limited. This study investigated real-world data on VEOIBD and monogenic IBD in Japan. Methods: We evaluated patients with VEO-IBD registered in the Japanese Pediatric Inflammatory Bowel Disease Registry, a multicenter prospective registry study conducted between 2012 and 2021. We categorized patients into monogenic and non-monogenic IBD groups and compared their clinical characteristics and outcomes. Results: Among 703 pediatric patients with IBD, 68 (9.7%) had VEO-IBD. Of these, 26 (38.2%) had ulcerative colitis, 16 (23.5%) had Crohn's disease, 23 (33.8%) had unclassified IBD (IBD-U), and 3 (4.4%) had Beh & ccedil;et's disease. Genetic testing was performed in 25 patients (36.8%), and monogenic IBD was identified in 5 of the 23 patients with IBD-U (7.4% of the VEO-IBD cohort). All 5 monogenic cases presented with an IBD-U phenotype. Monogenic IBD included A20 haploinsufficiency, interleukin-10 receptor subunit alpha deficiency, chronic granulomatous disease, Wiskott-Aldrich syndrome, and Hermansky-Pudlak syndrome. Monogenic IBD was significantly associated with IBD-U phenotype (P= 0.015) and severe infections before 1 year of age (P= 0.004). Conclusions: Patients with VEO-IBD who present an IBD-U phenotype and have a history of severe infections during infancy should be prioritized for genetic analysis to investigate the possibility of monogenic IBD. (Intest Res, Published online)

Gastroenterology & Hepatology

Life Sciences & Biomedicine

Science & Technology

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Title: Subtitle: Characteristics of monogenic inflammatory bowel disease in very early-onset cases: a Japanese multicenter registry study
Creators: Natsuki Ito - Juntendo University
Takahiro Kudo - Juntendo University
Keisuke Jimbo - Juntendo University
Ryusuke Nambu - Saitama Children's Medical Center
Fumihiko Kakuta - Miyagi Children's Hospital
Tatsuki Mizuochi - Kurume University
Takeshi Saito - Chiba Hospital
Shin-ichiro Hagiwara - Osaka Women's and Children's Hospital
Naomi Iwata - Aichi Children's Health and Medical Center
Nao Tachibana - Tokyo Metropolitan Children's Medical Center
Hideki Kumagai - Jichi Medical University
Takashi Ishige - Gunma University
Toshifumi Yodoshi - Okinawa Prefectural Chubu Hospital
Mikihiro Inoue - Fujita Health University
Shigeo Nishimata - Tokyo Medical University
Hitoshi Tajiri - Osaka Prefectural Medical Center
Eitaro Hiejima - Kyoto University Hospital
Mika Sasaki - Iwate Medical University
Sawako Kato - Shinshu University
Hirotaka Shimizu - National Center For Child Health and Development
Yuri Hirano - National Center For Child Health and Development
Toshiaki Shimizu - Juntendo University
Katsuhiro Arai - National Center For Child Health and Development
Japanese Pediatric Inflammatory Bowel Disease Registry (JPIBD-R)
Resource Type: Journal article
Publication Details: INTESTINAL RESEARCH
DOI: 10.5217/ir.2025.00203
PMID: 41731989
NLM abbreviation: Intest Res
ISSN: 1598-9100
eISSN: 2288-1956
Publisher: Korean Assoc Study Intestinal Diseases
Number of pages: 9
Grant note: 2019A-3 / National Center for Child Health and Development; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) 26-067 / Health and Labour Science Research Grant for Research on Intractable Diseases from the Ministry of Health, Labour, and Welfare of Japan
Language: English
Electronic publication date: 02/24/2026
Academic Unit: Stead Family Department of Pediatrics; Gastroenterology, Hepatology, Pancreatology, and Nutrition
Record Identifier: 9985217040802771

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