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Article

A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report.

BMC medical genomics - 26 Feb 2021

Shangaris Panicos, Ho Alison, Marnerides Andreas, George Simi, AlAdnani Mudher, Yau Shu, Jansson Mattias, Hoyle Jacqueline, Ahn Joo Wook, Ellard Sian, Irving Melita, Wellesley Diana, Pasupathy Dharmintra, Holder-Espinasse Muriel

Abstract excerpt

BACKGROUND: Fetal hydrops is excessive extravasation of fluid into the third space in a fetus, which could be due to a wide differential of underlying pathology. IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome primarily affects males. It is a monogenic primary immunodeficiency syndrome of X-linked recessive inheritance due to FOXP3 gene variants. It is characterised by the...

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Identifiers

PMID: 33637067
DOI: 10.1186/s12920-021-00901-6
PMCID: PMC7908803

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A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report.PMID 33637067Read ↗

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