Very early onset inflammatory bowel disease (VEO-IBD) is diagnosed in children < 6 years of age, and in rare cases may be due to an identifiable monogenic cause. Recent advances in genetic testing have allowed for more accurate diagnosis, with as many as 100 genes now known to be associated with monogenic inflammatory bowel disease. These genes are involved in many immune pathways and thus may represent potential avenues for targeted precision medicine with pharmacologic treatments aimed at these. This review describes the broad classifications of monogenic disorders known to cause VEO-IBD, as well as empiric and disease-specific medical therapies. These include immune-modulating or immunosuppressant medications, nutritional therapy, surgery, and hematopoietic stem cell transplantation. We aim to provide an overview of the current state of targeted therapy for VEO-IBD.

极早发性炎症性肠病 (VEO-IBD) 在小于 6 岁的儿童中被诊断出来，在极少数情况下可能是由于可识别的单基因原因。基因检测的最新进展使得诊断更加准确，现在已知多达 100 个基因与单基因炎症性肠病有关。这些基因涉及许多免疫途径，因此可能代表靶向精准医学的潜在途径，并针对这些基因进行药物治疗。这篇综述描述了已知导致 VEO-IBD 的单基因疾病的广泛分类，以及经验性和疾病特异性药物治疗。这些包括免疫调节或免疫抑制剂药物、营养疗法、手术和造血干细胞移植。