IPEX（免疫失调、多内分泌腺病、肠病、Χ连锁）是一种X连锁隐性综合征，与侵袭性自体免疫有关。
IPEX综合征非常罕见，系由于转录因子FOXP3突变，相继引起调节性T淋巴细胞功能障碍、自身免疫紊乱 (1)。
IPEX综合征表现为次级淋巴器官重度肿大、1型糖尿病、湿疹、食物过敏及感染，通常在婴儿期发病，但也有儿童期晚发报道。继发性肠病会导致持续性腹泻和生长和体重增长迟缓。
IPEX综合征诊断根据临床特征提示，基因分析证实。应考虑对兄弟姐妹和后代进行遗传咨询和有针对性的基因检测 (2, 3)。
参考文献
1.Chen CB, Tahboub F, Plesec T, et al: A review of autoimmune enteropathy and its associated syndromes.Dig Dis Sci 65(11): 3079–3090, 2020.doi: 10.1007/s10620-020-06540-8
2.Barzaghi F, Passerini L: IPEX syndrome: Improved knowledge of immune pathogenesis empowers diagnosis. Front Pediatr 9:612760, 2021.Published 2021 Feb 22.doi:10.3389/fped.2021.612760
3.Bacchetta R, Roncarolo MG: IPEX syndrome from diagnosis to cure, learning along the way. J Allergy Clin Immunol 153(3):595–605, 2024. doi: 10.1016/j.jaci.2023.11.021
IPEX综合征的治疗
治疗参考文献
1.Barzaghi F, Amaya Hernandez LC, Neven B, et al: Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.J Allergy Clin Immunol 141(3):1036–1049.e5, 2018.doi: 10.1016/j.jaci.2017.10.041
2.Ben-Skowronek I: IPEX syndrome: Genetics and treatment options. Genes (Basel) 12(3):323, 2021.Published 2021 Feb 24.doi:10.3390/genes12030323
3.Bacchetta R, Roncarolo MG: IPEX syndrome from diagnosis to cure, learning along the way. J Allergy Clin Immunol 153(3):595–605, 2024. doi: 10.1016/j.jaci.2023.11.021
