Identification of a novel variant of FOXP3 resulting in severe immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome highlights potential pitfalls of molecular testing.
Pediatr Dermatol
; 39(3): 483-485, 2022 May.
Article
em En
| MEDLINE
| ID: mdl-35191551
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Poliendocrinopatias Autoimunes
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Doenças Genéticas Ligadas ao Cromossomo X
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Diabetes Mellitus Tipo 1
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Eczema
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Doenças do Sistema Imunitário
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Enteropatias
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Humans
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Male
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article