Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor-associated kinase 4 deficiency: rapid screening by flow cytometer.
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.
Takada
Hidetoshi
H
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
Yoshikawa
Hideto
H
Imaizumi
Masue
M
Kitamura
Taro
T
Takeyama
Junji
J
Kumaki
Satoru
S
Nomura
Akihiko
A
Hara
Toshiro
T
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
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