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Case Reports
. 2021 Feb 26;14(1):58.
doi: 10.1186/s12920-021-00901-6.

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

Panicos Shangaris #  1 , Alison Ho #  2 , Andreas Marnerides  3 , Simi George  3 , Mudher AlAdnani  3 , Shu Yau  4 , Mattias Jansson  4 , Jacqueline Hoyle  4 , Joo Wook Ahn  4 , Sian Ellard  5 , Melita Irving  4 , Diana Wellesley  6 , Dharmintra Pasupathy #  2   7 , Muriel Holder-Espinasse #  4
Affiliations
Case Reports

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

Panicos Shangaris et al. BMC Med Genomics. .

Abstract

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 development of multiple autoimmune disorders in affected individuals.

Case presentation: We present a rare cause of male fetal hydrops in the context of IPEX syndrome and discuss FOXP3 gene variants as a differential for 'unexplained' fetal hydrops that may present after the first trimester.

Discussion and conclusions: In all similar cases, the pathological process begins during intrauterine life. Furthermore, there are no survivors described. Consequently, this variant should be considered as a severe one, associated with intrauterine life onset and fatal course, i.e., the most severe IPEX phenotype.

Keywords: FOXP3; Fetal hydrops; IPEX syndrome; In utero transfusion.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
IPEX Fetus legend. a Macerated hydropic male fetus. b Profile picture of a hydropic fetus with a low set, posteriorly rotated ears and micrognathia. c Transverse image of the abdomen showing severe ascites. d. Sagittal image of the affected fetus showing hydrops fetalis. e H&E picture showing increased nucleated red cells in fetal vessels of chorionic villi (arrows). f H&E picture showing autolysed intestines with no significant pathology
See this image and copyright information in PMC

References

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