Identification of a novel STAT3 mutation in a patient with hyper-IgE syndrome.
Scand J Infect Dis
; 45(3): 235-8, 2013 Mar.
Article
em En
| MEDLINE
| ID: mdl-22992060
ABSTRACT
Here we describe a patient with hyper-IgE syndrome presenting with recurrent staphylococcal abscesses, pneumonia, and chronic mucocutaneous candidiasis, and report the identification of a novel STAT3 mutation at amino acid position 621, which has not previously been described. In addition, we review the immunological, infectious, and genetic features of hyper-IgE syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fator de Transcrição STAT3
/
Síndrome de Job
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Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Middle aged
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article