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

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

doi:10.1016/j.jpeds.2004.06.065

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

J Pediatr. 2004 Nov;145(5):698-700. doi: 10.1016/j.jpeds.2004.06.065.

Authors

Anselm Enders¹, Ulrich Pannicke, Reinhard Berner, Phillip Henneke, Klaus Radlinger, Klaus Schwarz, Stephan Ehl

Affiliation

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

PMID: 15520784
DOI: 10.1016/j.jpeds.2004.06.065

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Fatal Outcome
Female
Humans
Immune Tolerance / genetics
Infant
Interleukin-1 Receptor-Associated Kinases
Male
Meningitis, Pneumococcal / genetics*
Meningitis, Pneumococcal / immunology
Mutation*
Pedigree
Phosphotransferases (Alcohol Group Acceptor) / genetics*
Phosphotransferases (Alcohol Group Acceptor) / immunology
Siblings

Substances

Phosphotransferases (Alcohol Group Acceptor)
Interleukin-1 Receptor-Associated Kinases