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JOURNAL ARTICLE
Theodouli Stergiopoulou, Thomas J Walsh, Marie-Christine Seghaye, Mihai G Netea, Jean-Laurent Casanova, Michel Moutschen, Capucine Picard
Interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency is a primary immunodeficiency of innate immunity. This is the case of a previous healthy toddler and his sibling, who both died of fulminant sepsis due to Pseudomonas aeruginosa. Subsequent genetic analysis demonstrated IRAK-4 deficiency with compound heterozygous splice mutations. Fulminant fatal P. aeruginosa sepsis may be the first manifestation of IRAK-4 deficiency.
March 2015: Pediatric Infectious Disease Journal
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