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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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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cited_by cdi_FETCH-LOGICAL-c385t-b57dc2511aec6ce3587bff40aefa97f9aea5cdb288ec50307992316874607a433
cites cdi_FETCH-LOGICAL-c385t-b57dc2511aec6ce3587bff40aefa97f9aea5cdb288ec50307992316874607a433
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container_issue 5
container_start_page 698
container_title The Journal of pediatrics
container_volume 145
creator Enders, Anselm
Pannicke, Ulrich
Berner, Reinhard
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.
doi_str_mv 10.1016/j.jpeds.2004.06.065
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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
title Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor–associated kinase 4
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