IPEX综合征的临床及分子学发现。
Clinical and molecular findings in IPEX syndrome.
作者信息
Myers A K, Perroni L, Costigan C, Reardon W
机构信息
National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
出版信息
Arch Dis Child. 2006 Jan;91(1):63-4. doi: 10.1136/adc.2005.078287.
Abstract
IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome) is a rare disorder which usually results in death in early infancy or childhood. Clinical awareness remains the cornerstone of diagnosis, and provided that the diagnosis is entertained, mutation analysis for FOXP3 gene mutations can be confirmatory. Two new patients in whom IPEX was diagnosed retrospectively are reported.
摘要
IPEX（免疫失调、多内分泌腺病、肠病、X连锁综合征）是一种罕见疾病，通常导致婴儿期或儿童期早期死亡。临床警觉性仍是诊断的基石，并且如果考虑到该诊断，对FOXP3基因突变进行分析可予以确诊。本文报告了两名经回顾性诊断为IPEX的新病例。
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