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

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...

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Bibliographic Details
Published in:The Journal of pediatrics 2004-11, Vol.145 (5), p.698-700
Main Authors: Enders, Anselm, Pannicke, Ulrich, Berner, Reinhard, Henneke, Phillip, Radlinger, Klaus, Schwarz, Klaus, Ehl, Stephan
Format: Article
Language:English
Subjects:
Biological and medical sciences
Fatal Outcome
Female
General aspects
Humans
Immune Tolerance - genetics
Infant
Interleukin-1 Receptor-Associated Kinases
Male
Medical sciences
Meningitis, Pneumococcal - genetics
Meningitis, Pneumococcal - immunology
Mutation
Pedigree
Phosphotransferases (Alcohol Group Acceptor) - genetics
Phosphotransferases (Alcohol Group Acceptor) - immunology
Siblings
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Summary: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.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2004.06.065