| Literature DB >> 26698383 |
Serge Grazioli1, Sara J Hamilton2, Margaret L McKinnon2, Kate L Del Bel3, Linda Hoang4, Victoria E Cook3, Kyla J Hildebrand3, Anne K Junker3, Stuart E Turvey5.
Abstract
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.Entities:
Keywords: IRAK-4 deficiency; Invasive pneumococcal disease; Meningitis; Primary immunodeficiency; Streptococcus pneumoniae; Toll-like receptor signaling
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Year: 2015 PMID： 26698383 DOI： 10.1016/j.clim.2015.12.007
Source DB: PubMed Journal: Clin Immunol ISSN： 1521-6616 Impact factor: 3.969