title: Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4.
abstract: We describe two siblings with one confirmed and one inferred homozygous base pair deletion in the gene for interleukin-1-related kinase 4 (IRAK-4) who died of pneumococcal meningitis at 2 and 14 months, respectively. Interleukin-1-related kinase 4 deficiency is a potentially lethal immunodeficiency characterized by a poor inflammatory response to pyogenic infections.
authors.affiliation: Center for Pediatrics and Adolescent Medicine, University of Freiburg, Germany.
authors.forename: Anselm
authors.initials: A
authors.lastname: Enders
authors.forename: Ulrich
authors.initials: U
authors.lastname: Pannicke
authors.forename: Reinhard
authors.initials: R
authors.lastname: Berner
authors.forename: Phillip
authors.initials: P
authors.lastname: Henneke
authors.forename: Klaus
authors.initials: K
authors.lastname: Radlinger
authors.forename: Klaus
authors.initials: K
authors.lastname: Schwarz
authors.forename: Stephan
authors.initials: S
authors.lastname: Ehl
mesh_terms: D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007108:Immune Tolerance / Q000235:genetics; D007223:Infant; D053592:Interleukin-1 Receptor-Associated Kinases; D008297:Male; D008586:Meningitis, Pneumococcal / Q000235:genetics* / Q000276:immunology; D009154:Mutation; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics* / Q000276:immunology; D035781:Siblings
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); D053592:Interleukin-1 Receptor-Associated Kinases