New Findings of Immunodysregulation, Polyendocrinopathy, and Enteropathy X-linked Syndrome (IPEX); Granulomas in Lung and Duodenum.
Pediatr Dev Pathol
; 24(3): 252-257, 2021.
Article
em En
| MEDLINE
| ID: mdl-33683986
ABSTRACT
Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene forkhead box protein 3 (FOXP3). IPEX patients frequently show chronic diarrhea (enteropathy) associated with villous atrophies in the small intestine. Our case is different from this classical information in the literature, since he presented with neonatal onset inflammatory bowel disease within the first months of life accompanied by deep ulcers throughout colonic mucosa. Moreover, he developed chronic lung disease during follow-up and histopathological examinations showed granulomas in both gastrointestinal tract and lung parenchyma. Genetic analysis revealed the diagnosis of IPEX syndrome with a germline mutation in FOXP3. Thus, our study provides an unusual presentation of IPEX syndrome with colitis and granulomas presence in histopathological examinations.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Granuloma do Sistema Respiratório
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Colite
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Doenças Genéticas Ligadas ao Cromossomo X
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Diabetes Mellitus Tipo 1
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Diarreia
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Doenças do Sistema Imunitário
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article