title: Deficiency of interleukin-1 receptor-associated kinase 4 presenting as fatal Pseudomonas aeruginosa bacteremia in two siblings.
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.
authors.affiliation: From the *Pediatric Department, ††Department of Infectious Diseases and General Internal Medicine, CHU Liege, University of Liege, Liege, Belgium; †Transplantation-Oncology Infectious Diseases Program, and Departments of Medicine, Pediatrics, and Microbiology & Immunology, Weill Cornell Medical Center, New York, NY; ‡Radboud University Medical Center, Nijmegen, The Netherlands; §Rockefeller University Hospital, York Avenue, New York, New York; ¶Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Medical School, Imagine Institute, Paris Descartes University, Paris, France; **Howard Hughes Medical Institute, New York, New York; and ‡‡Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris, Necker Hospital, Paris, France.
authors.forename: Theodouli
authors.initials: T
authors.lastname: Stergiopoulou
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Walsh
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: Seghaye
authors.forename: Mihai G
authors.initials: MG
authors.lastname: Netea
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Michel
authors.initials: M
authors.lastname: Moutschen
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
mesh_terms: D016470:Bacteremia; D017809:Fatal Outcome; D006801:Humans; D007153:Immunologic Deficiency Syndromes; D007223:Infant; D053592:Interleukin-1 Receptor-Associated Kinases; D008297:Male; D000081207:Primary Immunodeficiency Diseases; D011552:Pseudomonas Infections / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000382:microbiology*; D011550:Pseudomonas aeruginosa; D035781:Siblings
chemical_list: D053592:Interleukin-1 Receptor-Associated Kinases