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 | |
| State | Published - Mar 4 2015 |
| Externally published | Yes |
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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 journal › Article
}
TY - JOUR
T1 - Deficiency of interleukin-1 receptor-associated kinase 4 presenting as fatal Pseudomonas aeruginosa bacteremia in two siblings
AU - Stergiopoulou, Theodouli
AU - Walsh, Thomas J.
AU - Seghaye, Marie Christine
AU - Netea, Mihai G.
AU - Casanova, Jean Laurent
AU - Moutschen, Michel
AU - Picard, Capucine
PY - 2015/3/4
Y1 - 2015/3/4
N2 - 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.
AB - 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.
KW - delayed umbilical cord separation
KW - ecthyma gangrenosum
KW - ecthyma gangrenosum
KW - interleukin-1 receptor-associated kinase 4
KW - primary immunodeficiency
KW - Pseudomonas sepsis
UR - http://www.scopus.com/inward/record.url?scp=84924270268&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84924270268&partnerID=8YFLogxK
U2 - 10.1097/INF.0000000000000550
DO - 10.1097/INF.0000000000000550
M3 - Article
VL - 34
SP - 299
EP - 300
JO - Pediatric Infectious Disease Journal
JF - Pediatric Infectious Disease Journal
SN - 0891-3668
IS - 3
ER -