Digestive histopathological presentation of IPEX syndrome
Digestive histopathological presentation of IPEX syndrome
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DOI：
10.1038/modpathol.2008.161
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发表时间：
2009-01-01
期刊：
影响因子：
7.5
通讯作者：
Brousse, Nicole
中科院分区：
文献类型：
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作者：
de Serre, Natacha Patey-Mariaud;Canioni, Danielle;Brousse, Nicole
免疫调节失调、多内分泌疾病、肠病和X连锁遗传(IPEX)综合征是一种公认的、特别严重的自身免疫性肠病。它是一种X连锁的隐性传播，由FOXP3基因突变引起。我们研究了一系列经分子诊断为IPEX综合征的12名儿童的肠道形态变化。两位经验丰富的独立病理学家对十二指肠、胃和结肠活检的组织学检查进行了回顾和比较。同时，使用间接免疫荧光技术和针对75 kDa自身抗原的定量放射配基分析来分析循环中抗肠细胞抗体的存在。炎性肠病的形态可分为移植物抗宿主病样改变(9/12例)、腹腔病样改变(2/12例)和杯状细胞完全耗尽的肠病(1/12例)。我们的结果并不表明有任何表型与基因型的相关性。所有12例患者均检测到循环抗体，包括抗刷状边缘模式(11/12)和抗杯状细胞抗体(1/12)，以及放射配基分析。自身免疫性肠病的组织学表现多种多样。然而，与抗肠细胞抗体阳性相关的移植物抗宿主病样模式是IPEX综合征最常见的肠道表现，这构成了病理学家怀疑这一诊断的非常有价值的工具。
Immunodysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX) syndrome is a well recognized and particularly severe form of autoimmune enteropathy. It has an X-linked recessive transmission, and is caused by mutations in the FOXP3 gene. We studied the intestinal morphological changes characterizing IPEX syndrome in a series of 12 children with a molecularly confirmed diagnosis. Histological examination of duodenal, gastric and colonic biopsies were retrospectively reviewed and compared by two independent experienced pathologists. In parallel, the presence of circulating anti-enterocyte antibodies was analysed using an indirect immunofluorescence technique and a quantitative radioligand assay against the 75-kDa autoantigen. The morphology of the inflammatory gut lesions could be categorized into three different entities, namely graft-vs-host disease-like changes (9/12 patients), a coeliac disease-like pattern (2/12) and an enteropathy with a complete depletion of goblet cells (1/12). Our results do not suggest any phenotype genotype correlation. Circulating antibodies were detected in all 12 patients, with an anti-brush border pattern (11/12) and anti-goblet cell antibodies (1/12), as well as by a radioligand assay. The histological presentation of autoimmune enteropathy is rather variable. However, a graft-vs-host disease-like pattern associated with positive anti-enterocyte antibodies is the most frequent intestinal presentation of IPEX syndrome, and constitutes a very valuable tool for pathologists to suspect this diagnosis.