Deficiency of interleukin-1 receptor-associated kinase 4 presenting as fatal Pseudomonas aeruginosa bacteremia in two siblings

Theodouli Stergiopoulou, Thomas J. Walsh, Marie Christine Seghaye, Mihai G. Netea, Jean Laurent Casanova, Michel Moutschen, Capucine Picard

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)299-300
Number of pages2
JournalPediatric Infectious Disease Journal
Volume34
Issue number3
DOIs
StatePublished - Mar 4 2015
Externally publishedYes

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Interleukin-1 Receptor-Associated Kinases
Bacteremia
Pseudomonas aeruginosa
Sepsis
Innate Immunity
Mutation

Keywords

  • delayed umbilical cord separation
  • ecthyma gangrenosum
  • ecthyma gangrenosum
  • interleukin-1 receptor-associated kinase 4
  • primary immunodeficiency
  • Pseudomonas sepsis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Infectious Diseases
  • Microbiology (medical)
  • Medicine(all)

Cite this

Deficiency of interleukin-1 receptor-associated kinase 4 presenting as fatal Pseudomonas aeruginosa bacteremia in two siblings. / Stergiopoulou, Theodouli; Walsh, Thomas J.; Seghaye, Marie Christine; Netea, Mihai G.; Casanova, Jean Laurent; Moutschen, Michel; Picard, Capucine.

In: Pediatric Infectious Disease Journal, Vol. 34, No. 3, 04.03.2015, p. 299-300.

Research output: Contribution to journalArticle

Stergiopoulou, Theodouli ; Walsh, Thomas J. ; Seghaye, Marie Christine ; Netea, Mihai G. ; Casanova, Jean Laurent ; Moutschen, Michel ; Picard, Capucine. / Deficiency of interleukin-1 receptor-associated kinase 4 presenting as fatal Pseudomonas aeruginosa bacteremia in two siblings. In: Pediatric Infectious Disease Journal. 2015 ; Vol. 34, No. 3. pp. 299-300.
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