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-α production in response to lipopolysaccharide may be...

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Bibliographic Details
Published in:The Journal of pediatrics 2006-04, Vol.148 (4), p.546-548
Main Authors: Takada, Hidetoshi, Yoshikawa, Hideto, Imaizumi, Masue, Kitamura, Taro, Takeyama, Junji, Kumaki, Satoru, Nomura, Akihiko, Hara, Toshiro
Format: Article
Language:English
Subjects:
Biological and medical sciences
Biomarkers - metabolism
Case-Control Studies
Child, Preschool
Exons - genetics
Flow Cytometry
General aspects
Homozygote
Humans
Immunologic Deficiency Syndromes - blood
Immunologic Deficiency Syndromes - diagnosis
Immunologic Deficiency Syndromes - genetics
Interleukin-1 Receptor-Associated Kinases
Intracellular Signaling Peptides and Proteins - deficiency
Intracellular Signaling Peptides and Proteins - genetics
Lipopolysaccharides
Male
Matched-Pair Analysis
Medical sciences
Monocytes - metabolism
Mutation
Protein-Serine-Threonine Kinases - deficiency
Protein-Serine-Threonine Kinases - genetics
Teichoic Acids
Tumor Necrosis Factor-alpha - metabolism
Umbilical Cord
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Description
Summary: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-α production in response to lipopolysaccharide may be a useful method to screen for the disease.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2005.12.015