FOXP3基因的半合子突变（免疫失调、多内分泌腺病、肠病、X连锁综合征）导致复发性X连锁胎儿水肿：一例报告。

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

作者信息

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

机构信息

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.

Department of Histopathology, St Thomas Hospital, Westminster Bridge Road, London, SE17EH, UK.

出版信息

BMC Med Genomics. 2021 Feb 26;14(1):58. doi: 10.1186/s12920-021-00901-6.

DOI:10.1186/s12920-021-00901-6

PMID:33637067

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7908803/

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.

摘要