Recurrent Non Immune Fetal Hydrops Associated With IPEX Syndrome. (October 2019)

• Record Type: Journal Article
• Authors: Shanes, Elisheva; Propst, Lauren; Ouyang, David W; Ernst, Linda M
• Is Part Of: Pediatric and developmental pathology. Volume 22:Number 5(2019)
• Page Start: 465
• Page End: 471
• Publication Date: 2019-10
• Subjects: FOXP3 -- hemolytic anemia -- polyendocrinopathy -- regulatory T cells -- fetal hydrops; Pediatric pathology -- Periodicals; Children -- Diseases -- Periodicals; Diagnosis, Laboratory -- Periodicals; Abnormalities, Human -- Periodicals; Child development -- Periodicals; Pediatrics -- Periodicals; 616.07
• DOI: 10.1177/1093526619834809
• Languages: English
• ISSNs: 1093-5266

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.