IRAK-4 deficiency as a cause for familial fatal invasive infection by Streptococcus pneumoniae

Copyright © 2015 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 163(2016) vom: 23. Feb., Seite 14-6
1. Verfasser: Grazioli, Serge (VerfasserIn)
Weitere Verfasser: Hamilton, Sara J, McKinnon, Margaret L, Del Bel, Kate L, Hoang, Linda, Cook, Victoria E, Hildebrand, Kyla J, Junker, Anne K, Turvey, Stuart E
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2016
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Letter IRAK-4 deficiency Invasive pneumococcal disease Meningitis Primary immunodeficiency Streptococcus pneumoniae Toll-like receptor signaling IRAK4 protein, human EC 2.7.11.1 Interleukin-1 Receptor-Associated Kinases
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520 |a In this Letter to the Editor we report the case of two siblings with fatal pneumococcal meningitis as the initial manifestation of IRAK-4 deficiency caused by previously undescribed mutations in IRAK4. The letter also highlights the importance of invasive pneumococcal infection as a critical 'red flag' warning of the potential for an underlying primary immunodeficiency and identifies some of the challenges in making the clinical diagnosis of IRAK-4 deficiency 
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650 4 |a IRAK-4 deficiency 
650 4 |a Invasive pneumococcal disease 
650 4 |a Meningitis 
650 4 |a Primary immunodeficiency 
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650 4 |a Toll-like receptor signaling 
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700 1 |a Hamilton, Sara J  |e verfasserin  |4 aut 
700 1 |a McKinnon, Margaret L  |e verfasserin  |4 aut 
700 1 |a Del Bel, Kate L  |e verfasserin  |4 aut 
700 1 |a Hoang, Linda  |e verfasserin  |4 aut 
700 1 |a Cook, Victoria E  |e verfasserin  |4 aut 
700 1 |a Hildebrand, Kyla J  |e verfasserin  |4 aut 
700 1 |a Junker, Anne K  |e verfasserin  |4 aut 
700 1 |a Turvey, Stuart E  |e verfasserin  |4 aut 
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