Clin Immunol. 2015 Dec 15;163:14-16. doi: 10.1016/j.clim.2015.12.007. [Epub ahead of print]
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.
Copyright © 2015. Published by Elsevier Inc.
IRAK-4 deficiency; Invasive pneumococcal disease; Meningitis; Primary immunodeficiency; Streptococcus pneumoniae; Toll-like receptor signaling
PMID: 26698383 [PubMed - as supplied by publisher]