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J Pediatr. 2004 Nov;145(5):698-700.

Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4.

Author information

1
Center for Pediatrics and Adolescent Medicine, University of Freiburg, Germany.

Abstract

We describe two siblings with one confirmed and one inferred homozygous base pair deletion in the gene for interleukin-1-related kinase 4 (IRAK-4) who died of pneumococcal meningitis at 2 and 14 months, respectively. Interleukin-1-related kinase 4 deficiency is a potentially lethal immunodeficiency characterized by a poor inflammatory response to pyogenic infections.

PMID:
15520784
DOI:
10.1016/j.jpeds.2004.06.065
[Indexed for MEDLINE]

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