Panicos Shangaris1, Alison Ho2, Dharmintra Pasupathy2,3, Muriel Holder-Espinasse4, Andreas Marnerides5, Simi George5, Mudher AlAdnani5, Shu Yau4, Mattias Jansson4, Jacqueline Hoyle4, Joo Wook Ahn4, Sian Ellard6, Melita Irving4, Diana Wellesley7. 1. Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, 10th Floor North Wing, St Thomas' Hospital, Westminster Bridge Road, London, SE1 7EH, UK. panicos.shangaris@kcl.ac.uk. 2. Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, 10th Floor North Wing, St Thomas' Hospital, Westminster Bridge Road, London, SE1 7EH, UK. 3. Discipline of Obstetrics, Gynaecology and Neonatology, Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, Australia. 4. Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK. 5. Department of Histopathology, St Thomas Hospital, Westminster Bridge Road, London, SE17EH, UK. 6. Department of Molecular Genetics, Royal Devon & Exeter Hospital, Barrack Road, Exeter, EX2 5DW, UK. 7. Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, SO16 5YA, UK.
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.
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.
Entities:
Keywords:
FOXP3; Fetal hydrops; IPEX syndrome; In utero transfusion
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