Recurrent Non Immune Fetal Hydrops Associated With IPEX Syndrome

Elisheva Shanes, Lauren Propst, David W. Ouyang, Linda M. Ernst*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) is a clinical syndrome associated with mutations in FOXP3 and consequent abnormalities of T regulatory cells. Affected males typically die in infancy or early childhood from a variety of autoimmune conditions. Reports of recurrent pregnancy loss of male fetuses in these families have been accompanied by descriptions of nonimmune fetal hydrops, with or without additional fetal anomalies. Here, we report an additional family affected by IPEX with a novel mutation leading to recurrent second trimester fetal hydrops and intrauterine fetal demise with associated fetal anomalies. This report underscores how careful genetic and pathologic analysis of even midtrimester fetuses can provide important information impacting an entire family. It also further substantiates the use of broad, symptom-targeted genetic screening panels in cases of recurrent pregnancy loss even in the absence of a remarkable pedigree.

Original languageEnglish (US)
Pages (from-to)465-471
Number of pages7
JournalPediatric and Developmental Pathology
Volume22
Issue number5
DOIs
StatePublished - Oct 1 2019

Keywords

  • FOXP3
  • fetal hydrops
  • hemolytic anemia
  • polyendocrinopathy
  • regulatory T cells

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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