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

Panicos Shangaris; Alison Ho; Andreas Marnerides; Simi George; A Mudher; Shu Yau; Mattias Jansson; Jacqui Hoyle; Joo Wook Ahn; S Ellard; Melita Irving; Diana Wellesley; Dharmintra Pasupathy; Muriel Holder-Espinasse

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, Alison Ho, Andreas Marnerides, Simi George, A Mudher, Shu Yau, Mattias Jansson, Jacqui Hoyle, Joo Wook Ahn, S Ellard, Melita Irving, Diana Wellesley, Dharmintra Pasupathy, Muriel Holder-Espinasse

Women & Children's Health

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

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.

Original language	English
Article number	58
Journal	Bmc Medical Genomics
Volume	14
Issue number	1
DOIs	https://doi.org/10.1186/s12920-021-00901-6
Publication status	Published - 26 Feb 2021

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Shangaris, P., Ho, A., Marnerides, A., George, S., Mudher, A., Yau, S., Jansson, M., Hoyle, J., Ahn, J. W., Ellard, S., Irving, M., Wellesley, D., Pasupathy, D., & Holder-Espinasse, M. (2021). “A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops.”: a case report. Bmc Medical Genomics, 14(1), Article 58. https://doi.org/10.1186/s12920-021-00901-6

@article{e6e12b94e9e14614a1549a1295269bba,

title = "“A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops.”: a case report",

abstract = "BackgroundFetal 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 presentationWe present a rare cause of male fetal hydrops in the context of IPEX syndrome and discuss FOXP3 gene variants as a differential for {\textquoteleft}unexplained{\textquoteright} fetal hydrops that may present after the first trimester.Discussion and conclusionsIn 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.",

author = "Panicos Shangaris and Alison Ho and Andreas Marnerides and Simi George and A Mudher and Shu Yau and Mattias Jansson and Jacqui Hoyle and Ahn, {Joo Wook} and S Ellard and Melita Irving and Diana Wellesley and Dharmintra Pasupathy and Muriel Holder-Espinasse",

note = "Funding Information: The research time which allowed P.S. to collect and analyzed data was funded by an NIHR Clinical Lectureship (CL-2018-17-002) and an Academy of Medical Sciences Starter Grant for Clinical Lecturers (SGL023\1023). Publisher Copyright: {\textcopyright} 2021, The Author(s). Copyright: Copyright 2021 Elsevier B.V., All rights reserved.",

year = "2021",

month = feb,

day = "26",

doi = "10.1186/s12920-021-00901-6",

language = "English",

volume = "14",

journal = "Bmc Medical Genomics",

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Shangaris, P , Ho, A, Marnerides, A, George, S, Mudher, A, Yau, S, Jansson, M, Hoyle, J, Ahn, JW, Ellard, S, Irving, M, Wellesley, D, Pasupathy, D & Holder-Espinasse, M 2021, '“A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops.”: a case report', Bmc Medical Genomics, vol. 14, no. 1, 58. https://doi.org/10.1186/s12920-021-00901-6

TY - JOUR

T1 - “A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops.”

T2 - a case report

AU - Shangaris, Panicos

AU - Ho, Alison

AU - Marnerides, Andreas

AU - George, Simi

AU - Mudher, A

AU - Yau, Shu

AU - Jansson, Mattias

AU - Hoyle, Jacqui

AU - Ahn, Joo Wook

AU - Ellard, S

AU - Irving, Melita

AU - Wellesley, Diana

AU - Pasupathy, Dharmintra

AU - Holder-Espinasse, Muriel

N1 - Funding Information: The research time which allowed P.S. to collect and analyzed data was funded by an NIHR Clinical Lectureship (CL-2018-17-002) and an Academy of Medical Sciences Starter Grant for Clinical Lecturers (SGL023\1023). Publisher Copyright: © 2021, The Author(s). Copyright: Copyright 2021 Elsevier B.V., All rights reserved.

PY - 2021/2/26

Y1 - 2021/2/26

N2 - BackgroundFetal 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 presentationWe 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 conclusionsIn 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.

AB - BackgroundFetal 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 presentationWe 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 conclusionsIn 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.

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U2 - 10.1186/s12920-021-00901-6

DO - 10.1186/s12920-021-00901-6

M3 - Article

SN - 1755-8794

VL - 14

JO - Bmc Medical Genomics

JF - Bmc Medical Genomics

IS - 1

M1 - 58

ER -

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

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