病例报告:新型IL10RB变种导致非常早期发病的炎症性肠病
Yusuf Usman1, Christopher P Ptak2,3, Valeria C Cohran4,5
1Division of Allergy and Immunology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, United States.
Frontiers in immunology
|October 22, 2025
概括
在一个男婴中,非常早期发病的炎症性肠病 (VEO-IBD) 是由一种新型的同卵性IL10RB基因变异引起的. 这一发现扩大了VEO-IBD的遗传原因,并突出了诊断和治疗的挑战.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 遗传学 是一个
- 胃肠病学 胃肠病学
背景情况:
- 非常早期发病的炎症性肠病 (VEO-IBD) 可能是影响免疫调节的遗传缺陷造成的.
- 在严重的,早期发病的IBD病例中,单一的原因越来越被认可.
研究的目的:
- 报告在患有VEO-IBD的男性婴儿中发现的一种新型同卵性IL10RB变异.
- 扩大已知的IL10RB相关VEO-IBD的基因型谱.
- 突出管理IL-10受体缺乏症的临床和治疗挑战.
主要方法:
- 临床病例介绍婴儿患有难治性结肠炎,近囊和生长失败.
- 使用流来评估IL-10信号通路的功能评估.
- 基因检测用于识别同卵性IL10RB误解变异 (c.562T>G; p.C188G).
- 使用AlphaFold进行蛋白质结构分析.
- 使用阿纳金拉和全源造血干细胞移植 (HSCT) 的治疗.
主要成果:
- 发现了一种新型的同卵性功能丧失IL10RB变体 (c.562T>G; p.C188G).
- 患者在对IL-10的反应中表现出缺少STAT3酸化,证实了IL-10信号受损.
- 通过anakinra实现了部分疾病控制.
- 患者经历了HSCT移植失败.
- 需要持续管理的持续活跃疾病.
结论:
- 这种病例扩大了VEO-IBD的基因型谱,增加了一个新的IL10RB变异.
- 早期识别单一性IBD病因对于适当的治疗至关重要.
- 在IL-10R缺乏VEO-IBD的挑战包括诊断,免疫调节疗法和HSCT优化.
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