CASE REPORT article
Front. Immunol.
Sec. Autoimmune and Autoinflammatory Disorders : Autoimmune Disorders
A case report: Interleukin-23 blockade achieves sustained remission in Niemann–Pick type C-associated Crohn's disease refractory to anti-tumor necrosis factor therapy
Provisionally accepted
- Saga Medical School Hospital, Saga University, Saga, Japan
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Background: Niemann–Pick type C (NPC) is a lysosomal lipid trafficking disorder that is associated with defective autophagy and impaired bacterial clearance, potentially predisposing patients to Crohn's disease (CD)-like granulomatous enteritis. Tumor necrosis factor-alpha inhibitors are typically the first-line biologic treatment for CD. However, due to limited evidence-based data, the optimal treatment for NPC-associated CD remains unclear. Case Presentation: A 20-year-old female patient with genetically confirmed NPC developed diarrhea and refractory perianal abscesses at the age of 17 years. Colonoscopy showed discontinuous longitudinal erosions, and histological examination revealed chronic inflammation with granulomas. Based on these finding, a diagnosis of CD complicating NPC was made. Adalimumab was not successful in maintaining remission despite corticosteroid therapy. Ustekinumab induced steroid-free remission. Nevertheless, its effect diminished before each dosing interval. Switching to risankizumab achieved stable remission, which was maintained for 3 years. During interleukin (IL)-23 blockade therapy, the patient developed an infection associated with an intrathecal baclofen pump. Conclusion: This case indicates that IL-12/23 and IL-23 inhibitors can be effective therapeutic options for NPC-associated CD. Furthermore, it supports the hypothesis that IL-23-driven inflammation plays a role in the development of this condition. These findings should be considered hypothesis-generating and validated in additional cases.
Keywords: Biological Products, Crohn Disease, Granuloma, Interleukin-23, Niemann–Pick disease type C
Received: 13 Dec 2025; Accepted: 03 Feb 2026.
Copyright: © 2026 Kakiuchi, Shimada, Zhang, Nomura and Yoshiura. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Toshihiko Kakiuchi
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