Recurrent Non Immune Fetal Hydrops Associated With IPEX Syndrome

• Published in: Pediatric and developmental pathology Vol. 22; no. 5; pp. 465 - 471
• Main Authors: Shanes, Elisheva, Propst, Lauren, Ouyang, David W, Ernst, Linda M
• Format: Journal Article
• Language: English
• Published: Los Angeles, CA SAGE Publications 01-10-2019
• Subjects: Adult; Diabetes Mellitus, Type 1 - complications; Diabetes Mellitus, Type 1 - congenital; Diabetes Mellitus, Type 1 - genetics; Diarrhea - complications; Diarrhea - genetics; Female; Fetus; Forkhead Transcription Factors - genetics; Genetic Diseases, X-Linked - complications; Genetic Diseases, X-Linked - genetics; Humans; Hydrops Fetalis - etiology; Immune System Diseases - complications; Immune System Diseases - congenital; Immune System Diseases - genetics; Male; Mutation; Pedigree; Pregnancy; Pregnancy Complications - etiology; regulatory T cells; FOXP3; polyendocrinopathy; fetal hydrops; hemolytic anemia
• ISSN: 1093-5266; 1615-5742
• DOI: 10.1177/1093526619834809

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.