儿童极早发型炎症性肠病(VEO-IBD)是指发病年龄<6岁，以反复结肠炎、肛周病变及营养吸收障碍为主要临床表现的炎症性肠病(IBD)。不同于成人，单一基因突变在VEO-IBD发病中起重要作用。迄今为止，已发现约70种单基因缺陷参与VEO-IBD的发病机制，包括上皮屏障、中性粒细胞和吞噬细胞的功能、免疫细胞的选择和激活、免疫抑制机制或凋亡。白细胞介素10(IL-10)是一种抗炎细胞因子，参与调节先天性和适应性免疫，影响促炎分子的表达和多种免疫细胞的功能，在IBD的发生与发展进程中发挥重要作用，大多数IL-10信号通路缺陷(IL-10或IL-10受体缺陷)的患者会在儿童时期就表现出威胁生命的结肠炎。现就IL-10信号通路缺陷引起VEO－IBD的发病机制和治疗方式的研究进展进行综述。 Very early onset inflammatory bowel disease (VEO-IBD) in children refers to an IBD with the onset age of less than 6 years old， clinically characterized by recurrent colitis， perianal lesions， and nutrient absorption disorders。Different from adults， single gene mutation plays an important role in the pathogenesis of VEO-IBD。To date， about 70 single gene defects have been identified involving the pathogenesis of VEO-IBD， including epithelial barrier， neutrophil and phagocyte function， immune cell selection and activation， immunosuppressive mechanism， or apoptosis。Interleukin-10 (IL-10) is an anti-inflammatory cytokine that regulates innate and adaptive immunity， influences the expression of pro-inflammatory molecules and the function of multiple immune cells， and plays a vital role in the development and progression of IBD。Patients with defects in the IL-10 signaling pathway (IL-10 or IL-10 receptor deficiency) may develop life-threatening colitis as early as childhood。This article reviews the progress in the pathogenesis and treatment of VEO-IBD caused by IL-10 signaling pathway defects。
Progress in the pathogenesis and treatment of very early-onset inflammatory bowel disease caused by deficiency of interleukin-10 signaling pathway
Very early onset inflammatory bowel disease (VEO-IBD) in children refers to an IBD with the onset age of less than 6 years old, clinically characterized by recurrent colitis, perianal lesions, and nutrient absorption disorders.Different from adults, single gene mutation plays an important role in the pathogenesis of VEO-IBD.To date, about 70 single gene defects have been identified involving the pathogenesis of VEO-IBD, including epithelial barrier, neutrophil and phagocyte function, immune cell selection and activation, immunosuppressive mechanism, or apoptosis.Interleukin-10 (IL-10) is an anti-inflammatory cytokine that regulates innate and adaptive immunity, influences the expression of pro-inflammatory molecules and the function of multiple immune cells, and plays a vital role in the development and progression of IBD.Patients with defects in the IL-10 signaling pathway (IL-10 or IL-10 receptor deficiency) may develop life-threatening colitis as early as childhood.This article reviews the progress in the pathogenesis and treatment of VEO-IBD caused by IL-10 signaling pathway defects.
Interleukin-10Very early onset inflammatory bowel diseaseSingle gene diseaseImmunityTherapy
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