Department of Pediatric Gastroenterology, Bursa City Training and Research Hospital, Bursa, Turkey.
Department of Pediatric Allergy and Immunology, Dortcelik Child Hospital, Bursa, Turkey.
Fetal Pediatr Pathol. 2024 Sep-Oct;43(5):419-425. doi: 10.1080/15513815.2024.2388697. Epub 2024 Aug 11.
Inflammatory bowel disease (IBD) is classified as very early-onset IBD (VEO-IBD) if it occurs before age six. VEO-IBD may progress with more severe and resistant inflammation findings in the gastrointestinal and non-gastrointestinal systems.
We describe the clinical presentation of a 4-year-old female presenting with recurring episodes of bloody diarrhea, vomiting, abdominal pain, fever, arthritis, erysipelas, and bilateral ankle pain. Monogenic primary immunodeficiency (PID) was suspected due to her age, different clinical findings and the presence of atypical gastroscopic findings and deep transmural ulcerations resembling Crohn's disease. The gene analysis showed a homozygous mutation in the inducible T cell co-stimulator (ICOS) deficiency genes.
DISCUSSION/CONCLUSION: This case presentation shares our clinical experience and demonstrates the link between IBD progression and ICOS deficiency.
如果炎症性肠病 (IBD) 在 6 岁之前发生，则将其归类为非常早发性 IBD (VEO-IBD)。VEO-IBD 可能会在胃肠道和非胃肠道系统中出现更严重和更具抗性的炎症表现。
我们描述了一名 4 岁女性的临床表现，她反复出现血性腹泻、呕吐、腹痛、发热、关节炎、丹毒和双侧踝关节疼痛。由于她的年龄、不同的临床发现以及存在非典型胃镜发现和类似于克罗恩病的深层穿透性溃疡，我们怀疑存在单基因原发性免疫缺陷 (PID)。基因分析显示诱导性 T 细胞共刺激物 (ICOS) 缺陷基因的纯合突变。
讨论/结论：本病例介绍分享了我们的临床经验，并证明了 IBD 进展与 ICOS 缺陷之间的联系。
