Gassas Adam, Courtney Sarah, Armstrong Christine, Kapllani Erilda, Muise Aleixo M, Schechter Tal
Division of Hematology/Oncology/BMT, Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pediatr Transplant. 2015 Jun;19(4):E101-3. doi: 10.1111/petr.12452. Epub 2015 Mar 12.
Recent advances in genetic diagnosis have identified mutations in gene encoding interleukin-10 (IL-10) and IL-10 receptor (IL-10R) proteins as a cause for early-onset enterocolitis leading to hyperinflammatory immune response. Allogeneic HSCT offers a potential cure; however, it was only performed in a few infants and mainly from family-related donors. We report a case of a girl who presented very early in life with severe infantile enterocolitis. Gene sequencing confirmed IL-10R defect. Her older sister died at 13 months of age from severe undiagnosed enterocolitis. There was no family donor. An unrelated search identified a potential 10/10 high-resolution HLA-matched donor. There was some delay in donor activation because IL-10R defect was not on the standard list of indications for unrelated HSCT. Our patient received the unrelated HSCT at seven months of age, and she is currently nine months after transplant and doing very well. Because HSCT is the curative option of choice for this disorder, we encourage adding IL-10 and IL-10R protein defects to the list of HSCT indications for unrelated donor procurement.
基因诊断的最新进展已确定，编码白细胞介素-10（IL-10）和IL-10受体（IL-10R）蛋白的基因突变是导致早发性小肠结肠炎并引发高炎症免疫反应的一个原因。异基因造血干细胞移植（HSCT）提供了一种潜在的治愈方法；然而，此前仅在少数婴儿中进行过，且主要来自有亲缘关系的供体。我们报告了一例女童病例，她在生命早期就出现了严重的婴儿小肠结肠炎。基因测序证实存在IL-10R缺陷。她的姐姐在13个月大时死于严重的、未确诊的小肠结肠炎。没有家族供体。通过非亲缘供体检索找到了一位10/10高分辨率HLA匹配的潜在供体。由于IL-10R缺陷不在非亲缘HSCT的标准适应证列表中，供体激活出现了一些延迟。我们的患者在7个月大时接受了非亲缘HSCT，目前移植后9个月，情况良好。由于HSCT是这种疾病的首选治愈方法，我们鼓励将IL-10和IL-10R蛋白缺陷添加到非亲缘供体获取的HSCT适应证列表中。
