期刊
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
卷 14, 期 3, 页码 361-365出版社
GALENOS PUBL HOUSE
DOI: 10.4274/jcrpe.galenos.2021.2021.0005
关键词
Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome; neonatal diabetes; renal disease
IPEX syndrome is an early onset autoimmune disorder caused by mutation of the FOXP3 gene, characterized by enteropathy, endocrinopathy, and skin manifestations. However, patients with IPEX syndrome may display different types of symptoms.
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an early onset systemic autoimmune genetic disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene. Enteropathy, endocrinopathy and skin manifestations are considered the classic triad of IPEX syndrome. However, patients with IPEX syndrome display a variety of phenotypes including life threatening multi-organ autoimmunity. Here, we present the case of two siblings with IPEX syndrome with the same hemizygous mutation, but with different types of symptomology at onset of the disease.
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