Ye Lin, Song Xue, Cui Yun, Wu Shengnan, Wang Yizhong, Zhang Ting, Weng Wenhao, Ge Ting
Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, 355 Luding Road, Shanghai, 200062, China.
Department of Critical Care Medicine, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200062, China.
BMC Pediatr. 2024 Dec 18;24(1):806. doi: 10.1186/s12887-024-05264-2.
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare single-gene X-linked immunodeficiency disease caused by mutations in the forkhead box protein 3 (FOXP3) gene. The typical clinical manifestations of IPEX mainly include severe atopic dermatitis, insulin-dependent type 1 diabetes mellitus, and intractable diarrhea.
Here, we report a boy with intractable diarrhea diagnosed with early-onset IPEX syndrome due to the c.434C > T (p.Ala145Val) mutation in exon 4 of the FOXP3 gene. The patient experienced intractable diarrhea and severe weight loss, and his clinical symptoms could not be alleviated by conventional supportive and anti-infection treatment. Sirolimus, an immunosuppressant, preferentially inhibits effector T cells while allowing the proliferation of Tregs and is used to treat IPEX patients and alleviate intractable diarrhea.
We reviewed the literature on the use of sirolimus for the treatment of IPEX syndrome over the past two decades.
免疫失调、多内分泌腺病、肠病、X连锁（IPEX）综合征是一种罕见的单基因X连锁免疫缺陷病，由叉头框蛋白3（FOXP3）基因突变引起。IPEX的典型临床表现主要包括严重特应性皮炎、胰岛素依赖型1型糖尿病和顽固性腹泻。
在此，我们报告一名患有顽固性腹泻的男孩，因FOXP3基因第4外显子中的c.434C>T（p.Ala145Val）突变被诊断为早发型IPEX综合征。该患者经历了顽固性腹泻和严重体重减轻，其临床症状无法通过常规支持和抗感染治疗得到缓解。西罗莫司是一种免疫抑制剂，优先抑制效应T细胞，同时允许调节性T细胞增殖，用于治疗IPEX患者并缓解顽固性腹泻。
我们回顾了过去二十年中使用西罗莫司治疗IPEX综合征的文献。
