Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor–associated kinase 4 - 24/08/11
Doi : 10.1016/j.jpeds.2004.06.065
Anselm Enders, MD 
, Ulrich Pannicke, PhD , Reinhard Berner, MD, Phillip Henneke, MD, Klaus Radlinger, MD, Klaus Schwarz, MD, Stephan Ehl, MD ⁎ 
, Ulrich Pannicke, PhD , Reinhard Berner, MD, Phillip Henneke, MD, Klaus Radlinger, MD, Klaus Schwarz, MD, Stephan Ehl, MD ⁎ From The Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany; The Institute for Clinical Transfusion Medicine and Immunogenetics Ulm and Department of Transfusion Medicine, University of Ulm, Ulm, Germany; and The Children's Hospital Lörrach, Lörrach, Germany.
Reprint requests: Dr Stephen Ehl, Center for Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstrasse1, D-79106 Freiburg, Germany.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.
Le texte complet de cet article est disponible en PDF.Mots-clés : CRP, CSF, IRAK-4, NF-κB
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| Supported by the SFB 620 (Project A4). |
© 2004
Elsevier Inc. Tous droits réservés.
Vol 145 - N° 5
P. 698-700 - novembre 2004 Retour au numéro
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