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Clin Immunol. 2016 Feb;163:14-6. doi: 10.1016/j.clim.2015.12.007. Epub 2015 Dec 15.

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

Author information

1
Pediatric Intensive Care Unit, Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
2
Department of Medical Genetics, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
3
Division of Allergy and Clinical Immunology, Department of Pediatrics, British Columbia Children's Hospital and Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
4
BC Centre for Disease Control Public Health Microbiology & Reference Laboratory, Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.
5
Division of Allergy and Clinical Immunology, Department of Pediatrics, British Columbia Children's Hospital and Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada. Electronic address: sturvey@cw.bc.ca.

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.

KEYWORDS:

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

PMID:
26698383
DOI:
10.1016/j.clim.2015.12.007
[Indexed for MEDLINE]

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