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[Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in two cases].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2018

Zhu Qiong, Yuan Ke, Wang Chunlin, Fang Yanlan, Zhu Jianfang, Liang Li

Abstract excerpt

OBJECTIVE: To report on two cases affected with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX). METHODS: Two unrelated Chinese infants affected with IPEX were investigated. Case 1 was a 4-month-old boy with neonatal diabetes and severe enteropathy. Case 2 was a 6-day newborn boy with neonatal diabetes and ketoacidosis. DNA samples of the two infants and their parents were...

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Identifiers

PMID: 29896738
DOI: 10.3760/cma.j.issn.1003-9406.2018.03.018

Genes

FOXP3

Variants

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