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

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
Beschreibung
Zusammenfassung:Copyright © 2015 Elsevier Inc. All rights reserved.
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
Beschreibung:Date Completed 28.06.2016
Date Revised 10.12.2019
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2015.12.007