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2017 ; 5
(ä): 83
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English Wikipedia
IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report
and Review of the Literature
#MMPMID28503543
Gobin K
; Hintermeyer M
; Boisson B
; Chrabieh M
; Ghandil P
; Puel A
; Picard C
; Casanova JL
; Routes J
; Verbsky J
Front Pediatr
2017[]; 5
(ä): 83
PMID28503543
show ga
Primary immunodeficiencies are genetic defects of the innate or adaptive immune
system, resulting in a propensity to infections. The innate immune system is the
first line of defense against pathogens and is critical to recognize microbes and
start the inflammatory cascade. Sensing of microbes occurs by a number of
pathogen-recognition receptors, resulting in the activation of inflammatory
signal transduction pathways, such as the activation of NF-?B. Herein, we
describe a case of IRAK4 deficiency, a key signal transduction molecule of
toll-like and IL-1 receptors. We highlight the complexities in diagnosis of these
disorders and review genetic defects of the NF-?B pathway.