Identification of a novel variant of FOXP3 resulting in severe immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome highlights potential pitfalls of molecular testing.
Diabetes Mellitus, Type 1
/ congenital
Diarrhea
/ diagnosis
Eczema
Forkhead Transcription Factors
/ genetics
Genetic Diseases, X-Linked
/ diagnosis
Humans
Immune System Diseases
/ congenital
Intestinal Diseases
/ genetics
Male
Molecular Diagnostic Techniques
Mutation
Polyendocrinopathies, Autoimmune
/ diagnosis
Syndrome
genetic diseases/mechanisms
genodermatoses
immunodeficiency
Journal
Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799
Informations de publication
Date de publication:
May 2022
May 2022
Historique:
revised:
05
01
2022
received:
29
09
2021
accepted:
22
01
2022
pubmed:
23
2
2022
medline:
12
7
2022
entrez:
22
2
2022
Statut:
ppublish
Résumé
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.
Substances chimiques
FOXP3 protein, human
0
Forkhead Transcription Factors
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
483-485Informations de copyright
© 2022 Wiley Periodicals LLC.
Références
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