A Potential Screening Tool for IPEX Syndrome
A Potential Screening Tool for IPEX Syndrome
复制标题
IPEX 综合征的潜在筛查工具
DOI：
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发表时间：
2007
影响因子：
1.9
通讯作者：
L. Ernst
中科院分区：
文献类型：
--
作者：
M. Heltzer;J. Choi;H. Ochs;K. Sullivan;T. Torgerson;L. Ernst
IPEX综合征是一种罕见的遗传性疾病，其特征是免疫功能障碍、多内分泌病、肠病和X连锁隐性遗传。患者通常在婴儿期出现严重腹泻和发育不良。大多数儿童在1岁时死亡，没有治疗。诊断是通过遗传分析建立的，通常需要几周才能完成，有时会延迟关键的免疫抑制治疗。我们试图开发一种筛查工具，通过免疫细胞化学染色肠活检组织中的FOXP3+细胞，快速识别IPEX综合征患者。我们发现2例FOXP3蛋白截短突变所致的经典IPEX综合征患者固有层和淋巴聚集体中FOXP3+ T细胞染色显著减少。一名患有轻度迟发性表现和FOXP 3错义突变的患者的FOXP 3+细胞染色完整。该筛查试验为诊断可能无法耐受延迟治疗干预的重病患者的IPEX综合征提供了有价值的工具。
IPEX syndrome is a rare, inherited condition characterized by immune dysfunction, polyendocrinopathy, enteropathy, and X-linked recessive inheritance. Patients typically present in infancy with severe diarrhea and failure to thrive. Most children die by 1 year of age without therapy. The diagnosis is established by genetic analysis, which often takes several weeks to complete and can sometimes delay crucial immunosuppressive treatment. We attempted to develop a screening tool that allows rapid identification of patients with IPEX syndrome using immunocytochemical staining of FOXP3+ cells in bowel biopsies. We found that 2 patients with classic IPEX syndrome due to protein-truncating mutations in FOXP3 had markedly decreased staining of FOXP3+ T cells in the lamina propria and lymphoid aggregates. One patient with a mild, late-onset presentation and a missense mutation in FOXP3 had intact staining of FOXP3+ cells. This screening test provides a valuable tool for diagnosing IPEX syndrome in extremely ill patients who may not tolerate a delay in therapeutic intervention.
影响因子：
15.9
作者：
Chatila, TA;Blaeser, F;Bowcock, AM
通讯作者：
Bowcock, AM