A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report
Author
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
Date
2021-02-26Journal
BMC Medical GenomicsType
Case reportPublisher
SpringerDOI
10.1186/s12920-021-00901-6Rights
Copyright © The Author(s) 2021Metadata
Show full item recordAbstract
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 development of multiple autoimmune disorders in affected individuals.