Clin Immunol. 2015 Dec 15;163:14-16. doi: 10.1016/j.clim.2015.12.007. [Epub ahead of print]

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

Grazioli S1, Hamilton SJ2, McKinnon ML2, Del Bel KL3, Hoang L4, Cook VE3, Hildebrand KJ3, Junker AK3, Turvey SE5.

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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.

Copyright © 2015. Published by Elsevier Inc.

KEYWORDS:

IRAK-4 deficiency; Invasive pneumococcal disease; Meningitis; Primary immunodeficiency; Streptococcus pneumoniae; Toll-like receptor signaling

PMID: 26698383 [PubMed - as supplied by publisher]