title: Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor-associated kinase 4 deficiency: rapid screening by flow cytometer.
abstract: We describe 2 siblings who had interleukin-1 receptor-associated kinase 4 deficiency with a novel mutation in exon 2. They had delayed separation of the umbilical cord. The flow cytometric analysis of monocytic intracellular tumor necrosis factor-alpha production in response to lipopolysaccharide may be a useful method to screen for the disease.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, and the Department of Neurology, Miyagi Children's Hospital, Fukuoka, Japan. takadah@pediatr.med.kyushu-u.ac.jp
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Takada
authors.forename: Hideto
authors.initials: H
authors.lastname: Yoshikawa
authors.forename: Masue
authors.initials: M
authors.lastname: Imaizumi
authors.forename: Taro
authors.initials: T
authors.lastname: Kitamura
authors.forename: Junji
authors.initials: J
authors.lastname: Takeyama
authors.forename: Satoru
authors.initials: S
authors.lastname: Kumaki
authors.forename: Akihiko
authors.initials: A
authors.lastname: Nomura
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D015415:Biomarkers / Q000378:metabolism; D016022:Case-Control Studies; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005434:Flow Cytometry; D006720:Homozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D053592:Interleukin-1 Receptor-Associated Kinases; D047908:Intracellular Signaling Peptides and Proteins / Q000172:deficiency* / Q000235:genetics; D008070:Lipopolysaccharides; D008297:Male; D016555:Matched-Pair Analysis; D009000:Monocytes / Q000378:metabolism; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000172:deficiency* / Q000235:genetics; D013682:Teichoic Acids; D014409:Tumor Necrosis Factor-alpha / Q000378:metabolism*; D014470:Umbilical Cord
chemical_list: D015415:Biomarkers; D047908:Intracellular Signaling Peptides and Proteins; D008070:Lipopolysaccharides; D013682:Teichoic Acids; D014409:Tumor Necrosis Factor-alpha; C009900:lipoteichoic acid; D053592:Interleukin-1 Receptor-Associated Kinases; D017346:Protein Serine-Threonine Kinases