Disseminated nontuberculous mycobacterial infection in a child with interferon-gamma receptor 1 deficiency.
Eur J Pediatr
; 165(7): 458-61, 2006 Jul.
Article
em En
| MEDLINE
| ID: mdl-16602008
ABSTRACT
We describe the case of a 2-year-old boy with disseminated infection by a rapidly growing, poorly pathogenic mycobacterial species that belonged to the Mycobacterium fortuitum-Mycobacterium peregrinum complex. He had a severe course characterized by a poor response to treatment and recurrent lymph node abscess formation. Sequencing of the interferon-gamma receptor 1 gene (IFNgammaR1) revealed that he was homozygous for a novel null mutation, 453delT. Patients presenting with disseminated infections by rapidly growing environmental mycobacteria must be investigated for complete IFNgammaR1 deficiency. The spectrum of IFNgammaR1 genotypes associated with this immunological disorder is expanding.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Receptores de Interferon
/
Infecções por Mycobacterium não Tuberculosas
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article