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

doi:10.1097/INF.0000000000000550

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

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 language	English (US)
Pages (from-to)	299-300
Number of pages	2
Journal	Pediatric Infectious Disease Journal
Volume	34
Issue number	3
DOIs	https://doi.org/10.1097/INF.0000000000000550
State	Published - Mar 4 2015

Keywords

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

ASJC Scopus subject areas

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

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10.1097/INF.0000000000000550

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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 journal › Article › peer-review

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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.",

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AU - Casanova, Jean Laurent

AU - Moutschen, Michel

AU - Picard, Capucine

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KW - ecthyma gangrenosum

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KW - primary immunodeficiency

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

Abstract

Keywords

ASJC Scopus subject areas

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