Candidiasis associated with very early onset inflammatory bowel disease: First IL10RB deficient case from the National Iranian Registry and review of the literature.
Clin Immunol
; 205: 35-42, 2019 08.
Article
em En
| MEDLINE
| ID: mdl-31096038
ABSTRACT
Defects in interleukin-10 (IL10) and interleukin-10 receptors (IL10R) are closely related to very early onset (infantile) inflammatory bowel disease (VEO-IBD). In the present study, we report a novel homozygous null mutation within interleukin-10 receptor B (IL10RB) gene in a child presenting with severe VEO-IBD. In accordance with previous reports, our patient manifested with chronic diarrhea, failure to thrive, intermittent fever and multiple anal ulcers associated with Candidiasis. Homozygous null mutation within IL10RB gene (c.92Câ¯>â¯T, p.S31P) affecting the extracellular domain of protein was discovered in this patient. In conclusion, the diagnosis of IL-10R gene mutations should always be considered as a possible cause of refractory diarrhea and failure to thrive. Mutation analysis could help detect the genetic defects associated with these clinical manifestations and to determine the most appropriate treatment option for patients affected by this disease.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Candidíase Bucal
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Doenças Inflamatórias Intestinais
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Subunidade beta de Receptor de Interleucina-10
Tipo de estudo:
Risk_factors_studies
Limite:
Child, preschool
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Humans
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Male
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article