Department of Pediatric Gastroenterology and Hepatology, Gazi University, Ankara, Turkey.
Department of Pediatric Pulmonology, Bezmialem Vakif University, Istanbul, Turkey.
Pediatr Dev Pathol. 2021 May-Jun;24(3):252-257. doi: 10.1177/1093526621998868. Epub 2021 Mar 8.
Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene forkhead box protein 3 (FOXP3). IPEX patients frequently show chronic diarrhea (enteropathy) associated with villous atrophies in the small intestine. Our case is different from this classical information in the literature, since he presented with neonatal onset inflammatory bowel disease within the first months of life accompanied by deep ulcers throughout colonic mucosa. Moreover, he developed chronic lung disease during follow-up and histopathological examinations showed granulomas in both gastrointestinal tract and lung parenchyma. Genetic analysis revealed the diagnosis of IPEX syndrome with a germline mutation in FOXP3. Thus, our study provides an unusual presentation of IPEX syndrome with colitis and granulomas presence in histopathological examinations.
免疫调节紊乱、多内分泌腺病、肠病、X 连锁（IPEX）综合征是一种由叉头框蛋白 3（FOXP3）基因功能丧失突变引起的罕见疾病。IPEX 患者常表现为慢性腹泻（肠病），伴有小肠绒毛萎缩。我们的病例与文献中的经典信息不同，因为他在生命的头几个月内出现了新生儿发病的炎症性肠病，伴有整个结肠黏膜的深溃疡。此外，他在随访中发展为慢性肺病，组织病理学检查显示胃肠道和肺实质均有肉芽肿。基因分析显示 FOXP3 种系突变诊断为 IPEX 综合征。因此，我们的研究提供了 IPEX 综合征的一种不常见表现，组织病理学检查显示结肠炎和肉芽肿存在。
