Identification of a novel variant of FOXP3 resulting in severe immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome highlights potential pitfalls of molecular testing

Autor:	Allison Kirchner, Isabelle M. Sanchez, Alice Zalan, Gifty Bhat, Michelle Bain
Rok vydání:	2022
Předmět:	Diarrhea Male Eczema Forkhead Transcription Factors Genetic Diseases X-Linked Dermatology Syndrome Intestinal Diseases Diabetes Mellitus Type 1 Immune System Diseases Molecular Diagnostic Techniques Pediatrics Perinatology and Child Health Mutation Humans Polyendocrinopathies Autoimmune
Zdroj:	Pediatric dermatologyREFERENCES. 39(3)
ISSN:	1525-1470
Popis:	Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare genetic disorder that typically presents in the first year of life with severe diarrhea, autoimmune endocrine disorder, and inflammatory dermatitis, most commonly an eczematous dermatitis. IPEX syndrome is caused by variants in the FOXP3 gene leading to dysregulation of T-regulatory (Treg) cells and an aberrant immune response. Here, we present a case of severe IPEX syndrome diagnosed following whole genome sequencing (WGS) in a 2-week-old boy with bloody mucoid diarrhea, failure to thrive, and a diffuse eczematous dermatitis. As multiple variants of interest were identified with WGS, this case highlights the importance of relating the clinical symptoms to the genetic results.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d33195c2303be6cf5e2ed98851547bc https://pubmed.ncbi.nlm.nih.gov/35191551 Zobrazit plný text záznamu Plný text