title: Even in pneumococcal sepsis CD62L shedding on granulocytes proves to be a reliable functional test for the diagnosis of interleukin-1 receptor-associated kinase-4 deficiency.
abstract: A 9-month-old infant presented with fatal pneumococcal sepsis and attenuated inflammation indices. Even in septic conditions, flow cytometry-based CD62L shedding test on granulocytes proved to be a fast and reliable diagnostic tool for the detection of a defect in the innate immunity. Confirmatory immunologic and genetic assays identified an autosomal-recessive interleukin-1 receptor-associated kinase-4 deficiency due to compound heterozygous mutations.
authors.affiliation: From the *Division of Pediatric Infectious Diseases and Immunology and Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University of Würzburg, Würzburg, Germany; †Department of Pediatric Pneumology and Immunology, Charité Children's Hospital; ‡Division of Immunology, Labor Berlin; §Institute of Medical Immunology, Charité, Campus Virchow Klinikum; ¶Medical Department I, Charité-Universitätsmedizin Berlin, Campus Benjamin Franklin, Berlin, Germany; and ‖Institute for Clinical Transfusion Medicine and Immunogenetics, Ulm, German Red Cross Blood Service, Baden-Württemberg-Hessen, and Institute for Transfusion Medicine, University Hospital Ulm, Ulm, Germany.
authors.forename: Oliver
authors.initials: O
authors.lastname: Andres
authors.forename: Karoline
authors.initials: K
authors.lastname: Strehl
authors.forename: Uwe
authors.initials: U
authors.lastname: Kölsch
authors.forename: Steffen
authors.initials: S
authors.lastname: Kunzmann
authors.forename: Anne-Hélène
authors.initials: AH
authors.lastname: Lebrun
authors.forename: Thorsten
authors.initials: T
authors.lastname: Stroh
authors.forename: Klaus
authors.initials: K
authors.lastname: Schwarz
authors.forename: Henner
authors.initials: H
authors.lastname: Morbach
authors.forename: Horst
authors.initials: H
authors.lastname: von Bernuth
authors.forename: Johannes
authors.initials: J
authors.lastname: Liese
authors.forename: Johannes
authors.initials: J
authors.lastname: Liefse
mesh_terms: D005434:Flow Cytometry; D006098:Granulocytes / Q000276:immunology*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000151:congenital* / Q000175:diagnosis*; D007223:Infant; D053592:Interleukin-1 Receptor-Associated Kinases / Q000172:deficiency*; D019041:L-Selectin / Q000378:metabolism*; D011008:Pneumococcal Infections / Q000276:immunology*; D018805:Sepsis / Q000276:immunology*
chemical_list: D019041:L-Selectin; D053592:Interleukin-1 Receptor-Associated Kinases