Article
Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4.
The Journal of pediatrics - 1 Nov 2004
Enders Anselm, Pannicke Ulrich, Berner Reinhard, Henneke Phillip, Radlinger Klaus, Schwarz Klaus, Ehl Stephan
Abstract excerpt
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.
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