TWO SIBLINGS WITH LETHAL PNEUMOCOCCAL MENINGITIS IN A FAMILY WITH A MUTATION IN INTERLEUKIN-1 RECEPTOR-ASSOCIATED KINASE 4.
ENDERS, ANSELM MD *; PANNICKE, ULRICH PHD *; BERNER, REINHARD MD; HENNEKE, PHILLIP MD; RADLINGER, KLAUS MD; SCHWARZ, KLAUS MD; EHL, STEPHAN MD
[Article]
Journal of Pediatrics.
145(5):698-700, November 2004.
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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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