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231224s2016 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2015.12.007
|2 doi
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|a pubmed24n0852.xml
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|a DE-627
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|e rakwb
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|a eng
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|a Grazioli, Serge
|e verfasserin
|4 aut
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|a IRAK-4 deficiency as a cause for familial fatal invasive infection by Streptococcus pneumoniae
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|c 2016
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
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|a ƒa Online-Ressource
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|a Date Completed 28.06.2016
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|a Date Revised 10.12.2019
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2015 Elsevier Inc. All rights reserved.
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|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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|a Case Reports
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|a Letter
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|a IRAK-4 deficiency
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|a Invasive pneumococcal disease
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|a Meningitis
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|a Primary immunodeficiency
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|a Streptococcus pneumoniae
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|a Toll-like receptor signaling
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|a IRAK4 protein, human
|2 NLM
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|a EC 2.7.11.1
|2 NLM
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|a Interleukin-1 Receptor-Associated Kinases
|2 NLM
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|a EC 2.7.11.1
|2 NLM
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1 |
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|a Hamilton, Sara J
|e verfasserin
|4 aut
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1 |
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|a McKinnon, Margaret L
|e verfasserin
|4 aut
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1 |
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|a Del Bel, Kate L
|e verfasserin
|4 aut
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1 |
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|a Hoang, Linda
|e verfasserin
|4 aut
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1 |
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|a Cook, Victoria E
|e verfasserin
|4 aut
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1 |
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|a Hildebrand, Kyla J
|e verfasserin
|4 aut
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1 |
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|a Junker, Anne K
|e verfasserin
|4 aut
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1 |
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|a Turvey, Stuart E
|e verfasserin
|4 aut
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 163(2016) vom: 23. Feb., Seite 14-6
|w (DE-627)NLM098196855
|x 1521-7035
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|g volume:163
|g year:2016
|g day:23
|g month:02
|g pages:14-6
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|u http://dx.doi.org/10.1016/j.clim.2015.12.007
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