Deficiency of Interleukin-1 Receptor-associated Kinase 4 Presenting as Fatal Pseudomonas aeruginosa Bacteremia in Two Siblings. Issue 3 (March 2015)

• Record Type: Journal Article
• Authors: Stergiopoulou, Theodouli; Walsh, Thomas J.; Seghaye, Marie-Christine; Netea, Mihai G.; Casanova, Jean-Laurent; Moutschen, Michel; Picard, Capucine
• Is Part Of: Pediatric infectious disease journal. Volume 34:Issue 3(2015)
• Publication Date: 2015-03
• Subjects: interleukin-1 receptor-associated kinase 4 -- Pseudomonas sepsis -- primary immunodeficiency -- ecthyma gangrenosum -- delayed umbilical cord separation -- ecthyma gangrenosum; Communicable diseases in children -- Periodicals; Infection in children -- Periodicals; 618.929
• DOI: 10.1097/INF.0000000000000550
• Languages: English
• ISSNs: 0891-3668

Abstract

Abstract : 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.