IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.
J Med Genet
; 44(1): 16-23, 2007 Jan.
Article
em En
| MEDLINE
| ID: mdl-16950813
ABSTRACT
BACKGROUND:
About 2% of childhood episodes of invasive pneumococcal disease (IPD) are recurrent, and most remain unexplained.OBJECTIVE:
To report two cases of otherwise healthy, unrelated children with recurrent IPD as the only clinical infectious manifestation of an inherited disorder in nuclear factor-kappaB(NF-kappaB)-dependent immunity.RESULTS:
One child carried two germline mutations in IRAK4, and had impaired cellular responses to interleukin (IL)1 receptor and toll-like receptor (TLR) stimulation. The other child carried a hemizygous mutation in NEMO, associated with a broader impairment of NF-kappaB activation, with an impaired cellular response to IL-1R, TLR and tumour necrosis factor receptor stimulation. The two patients shared a narrow clinical phenotype, associated with two related but different genotypes.CONCLUSIONS:
Otherwise healthy children with recurrent IPD should be explored for underlying primary immunodeficiencies affecting the IRAK4-dependent and NEMO-dependent signalling pathways.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Infecções Pneumocócicas
/
Streptococcus pneumoniae
/
Quinase I-kappa B
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Quinases Associadas a Receptores de Interleucina-1
Limite:
Child
/
Child, preschool
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article