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

Enders, Anselm; Pannicke, Ulrich; Berner, Reihnard; Henneke, Phillip; Radlinger, Klaus; Schwarz, Klaus; Ehl, Stephan

Description

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.

CollectionsANU Research Publications
Date published: 2004
Type: Journal article
URI: http://hdl.handle.net/1885/36665
Source: Journal of Pediatrics
DOI: 10.1016/j.jpeds.2004.06.065

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