Loading…

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...

Full description

Saved in:

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
Citations:	Items that this one cites Items that cite this one
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

cited_by	cdi_FETCH-LOGICAL-c387t-55476ed3cf1df8699a632ca86d3f17a5bf26913ad0c111155270c293f5c5a3d33
cites	cdi_FETCH-LOGICAL-c387t-55476ed3cf1df8699a632ca86d3f17a5bf26913ad0c111155270c293f5c5a3d33
container_end_page	548
container_issue	4
container_start_page	546
container_title	The Journal of pediatrics
container_volume	148
creator	Takada, Hidetoshi Yoshikawa, Hideto Imaizumi, Masue Kitamura, Taro Takeyama, Junji Kumaki, Satoru Nomura, Akihiko Hara, Toshiro
description	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.
doi_str_mv	10.1016/j.jpeds.2005.12.015
format	article
fullrecord	<record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_67919011</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0022347605011674</els_id><sourcerecordid>67919011</sourcerecordid><originalsourceid>FETCH-LOGICAL-c387t-55476ed3cf1df8699a632ca86d3f17a5bf26913ad0c111155270c293f5c5a3d33</originalsourceid><addsrcrecordid>eNp9kc9u1DAQxi0EotvCEyAhX-CW4D-JvUHigAqFSpWQEJwtxx5TL0kcbIdVbrwDF56PJ8HbXak3fJmDf_PNzPch9IySmhIqXu3q3Qw21YyQtqasJrR9gDaUdLISW84fog0hjFW8keIMnae0I4R0DSGP0RkVopENoxv05x0MegWLE8w66uzDhIPD-RbwMvZ-8EYP2IRosZ9w3gecfD_46VvCe59v8fWUIQ6wfPdTRXEEA3MO8e-v3zqlYLzORbn86QS4wRacNx4ms77Gn_Xsy1ATAaYih_sVuyHssVlzGKGIPkGPnB4SPD3VC_T16v2Xy4_VzacP15dvbyrDtzJXbVvOA8uNo9ZtRddpwZnRW2G5o1K3vWOio1xbYmh5bcskMazjrjWt5pbzC_TyqDvH8GOBlNXok4Fh0BOEJSkhO9oRSgvIj6CJIaUITs3RjzquihJ1CETt1F0g6hCIokyVQErX85P80o9g73tOCRTgxQnQqXjtop6MT_eclJJSedjzzZGDYsZPD1GlOy_B-mJ7Vjb4_y7yDxdTrZg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>67919011</pqid></control><display><type>article</type><title>Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor–associated kinase 4 deficiency: Rapid screening by flow cytometer</title><source>Elsevier</source><creator>Takada, Hidetoshi ; Yoshikawa, Hideto ; Imaizumi, Masue ; Kitamura, Taro ; Takeyama, Junji ; Kumaki, Satoru ; Nomura, Akihiko ; Hara, Toshiro</creator><creatorcontrib>Takada, Hidetoshi ; Yoshikawa, Hideto ; Imaizumi, Masue ; Kitamura, Taro ; Takeyama, Junji ; Kumaki, Satoru ; Nomura, Akihiko ; Hara, Toshiro</creatorcontrib><description>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.</description><identifier>ISSN: 0022-3476</identifier><identifier>EISSN: 1097-6833</identifier><identifier>DOI: 10.1016/j.jpeds.2005.12.015</identifier><identifier>PMID: 16647421</identifier><identifier>CODEN: JOPDAB</identifier><language>eng</language><publisher>New York, NY: Mosby, Inc</publisher><subject>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</subject><ispartof>The Journal of pediatrics, 2006-04, Vol.148 (4), p.546-548</ispartof><rights>2006 Elsevier Inc.</rights><rights>2006 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c387t-55476ed3cf1df8699a632ca86d3f17a5bf26913ad0c111155270c293f5c5a3d33</citedby><cites>FETCH-LOGICAL-c387t-55476ed3cf1df8699a632ca86d3f17a5bf26913ad0c111155270c293f5c5a3d33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27900,27901</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17771173$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16647421$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Takada, Hidetoshi</creatorcontrib><creatorcontrib>Yoshikawa, Hideto</creatorcontrib><creatorcontrib>Imaizumi, Masue</creatorcontrib><creatorcontrib>Kitamura, Taro</creatorcontrib><creatorcontrib>Takeyama, Junji</creatorcontrib><creatorcontrib>Kumaki, Satoru</creatorcontrib><creatorcontrib>Nomura, Akihiko</creatorcontrib><creatorcontrib>Hara, Toshiro</creatorcontrib><title>Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor–associated kinase 4 deficiency: Rapid screening by flow cytometer</title><title>The Journal of pediatrics</title><addtitle>J Pediatr</addtitle><description>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.</description><subject>Biological and medical sciences</subject><subject>Biomarkers - metabolism</subject><subject>Case-Control Studies</subject><subject>Child, Preschool</subject><subject>Exons - genetics</subject><subject>Flow Cytometry</subject><subject>General aspects</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Immunologic Deficiency Syndromes - blood</subject><subject>Immunologic Deficiency Syndromes - diagnosis</subject><subject>Immunologic Deficiency Syndromes - genetics</subject><subject>Interleukin-1 Receptor-Associated Kinases</subject><subject>Intracellular Signaling Peptides and Proteins - deficiency</subject><subject>Intracellular Signaling Peptides and Proteins - genetics</subject><subject>Lipopolysaccharides</subject><subject>Male</subject><subject>Matched-Pair Analysis</subject><subject>Medical sciences</subject><subject>Monocytes - metabolism</subject><subject>Mutation</subject><subject>Protein-Serine-Threonine Kinases - deficiency</subject><subject>Protein-Serine-Threonine Kinases - genetics</subject><subject>Teichoic Acids</subject><subject>Tumor Necrosis Factor-alpha - metabolism</subject><subject>Umbilical Cord</subject><issn>0022-3476</issn><issn>1097-6833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><recordid>eNp9kc9u1DAQxi0EotvCEyAhX-CW4D-JvUHigAqFSpWQEJwtxx5TL0kcbIdVbrwDF56PJ8HbXak3fJmDf_PNzPch9IySmhIqXu3q3Qw21YyQtqasJrR9gDaUdLISW84fog0hjFW8keIMnae0I4R0DSGP0RkVopENoxv05x0MegWLE8w66uzDhIPD-RbwMvZ-8EYP2IRosZ9w3gecfD_46VvCe59v8fWUIQ6wfPdTRXEEA3MO8e-v3zqlYLzORbn86QS4wRacNx4ms77Gn_Xsy1ATAaYih_sVuyHssVlzGKGIPkGPnB4SPD3VC_T16v2Xy4_VzacP15dvbyrDtzJXbVvOA8uNo9ZtRddpwZnRW2G5o1K3vWOio1xbYmh5bcskMazjrjWt5pbzC_TyqDvH8GOBlNXok4Fh0BOEJSkhO9oRSgvIj6CJIaUITs3RjzquihJ1CETt1F0g6hCIokyVQErX85P80o9g73tOCRTgxQnQqXjtop6MT_eclJJSedjzzZGDYsZPD1GlOy_B-mJ7Vjb4_y7yDxdTrZg</recordid><startdate>20060401</startdate><enddate>20060401</enddate><creator>Takada, Hidetoshi</creator><creator>Yoshikawa, Hideto</creator><creator>Imaizumi, Masue</creator><creator>Kitamura, Taro</creator><creator>Takeyama, Junji</creator><creator>Kumaki, Satoru</creator><creator>Nomura, Akihiko</creator><creator>Hara, Toshiro</creator><general>Mosby, Inc</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20060401</creationdate><title>Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor–associated kinase 4 deficiency: Rapid screening by flow cytometer</title><author>Takada, Hidetoshi ; Yoshikawa, Hideto ; Imaizumi, Masue ; Kitamura, Taro ; Takeyama, Junji ; Kumaki, Satoru ; Nomura, Akihiko ; Hara, Toshiro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c387t-55476ed3cf1df8699a632ca86d3f17a5bf26913ad0c111155270c293f5c5a3d33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Biological and medical sciences</topic><topic>Biomarkers - metabolism</topic><topic>Case-Control Studies</topic><topic>Child, Preschool</topic><topic>Exons - genetics</topic><topic>Flow Cytometry</topic><topic>General aspects</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Immunologic Deficiency Syndromes - blood</topic><topic>Immunologic Deficiency Syndromes - diagnosis</topic><topic>Immunologic Deficiency Syndromes - genetics</topic><topic>Interleukin-1 Receptor-Associated Kinases</topic><topic>Intracellular Signaling Peptides and Proteins - deficiency</topic><topic>Intracellular Signaling Peptides and Proteins - genetics</topic><topic>Lipopolysaccharides</topic><topic>Male</topic><topic>Matched-Pair Analysis</topic><topic>Medical sciences</topic><topic>Monocytes - metabolism</topic><topic>Mutation</topic><topic>Protein-Serine-Threonine Kinases - deficiency</topic><topic>Protein-Serine-Threonine Kinases - genetics</topic><topic>Teichoic Acids</topic><topic>Tumor Necrosis Factor-alpha - metabolism</topic><topic>Umbilical Cord</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Takada, Hidetoshi</creatorcontrib><creatorcontrib>Yoshikawa, Hideto</creatorcontrib><creatorcontrib>Imaizumi, Masue</creatorcontrib><creatorcontrib>Kitamura, Taro</creatorcontrib><creatorcontrib>Takeyama, Junji</creatorcontrib><creatorcontrib>Kumaki, Satoru</creatorcontrib><creatorcontrib>Nomura, Akihiko</creatorcontrib><creatorcontrib>Hara, Toshiro</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The Journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Takada, Hidetoshi</au><au>Yoshikawa, Hideto</au><au>Imaizumi, Masue</au><au>Kitamura, Taro</au><au>Takeyama, Junji</au><au>Kumaki, Satoru</au><au>Nomura, Akihiko</au><au>Hara, Toshiro</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor–associated kinase 4 deficiency: Rapid screening by flow cytometer</atitle><jtitle>The Journal of pediatrics</jtitle><addtitle>J Pediatr</addtitle><date>2006-04-01</date><risdate>2006</risdate><volume>148</volume><issue>4</issue><spage>546</spage><epage>548</epage><pages>546-548</pages><issn>0022-3476</issn><eissn>1097-6833</eissn><coden>JOPDAB</coden><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-α production in response to lipopolysaccharide may be a useful method to screen for the disease.</abstract><cop>New York, NY</cop><pub>Mosby, Inc</pub><pmid>16647421</pmid><doi>10.1016/j.jpeds.2005.12.015</doi><tpages>3</tpages></addata></record>
fulltext	fulltext
identifier	ISSN: 0022-3476
ispartof	The Journal of pediatrics, 2006-04, Vol.148 (4), p.546-548
issn	0022-3476 1097-6833
language	eng
recordid	cdi_proquest_miscellaneous_67919011
source	Elsevier
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
title	Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor–associated kinase 4 deficiency: Rapid screening by flow cytometer
url	http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-24T17%3A05%3A50IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Delayed%20separation%20of%20the%20umbilical%20cord%20in%20two%20siblings%20with%20Interleukin-1%20receptor%E2%80%93associated%20kinase%204%20deficiency:%20Rapid%20screening%20by%20flow%20cytometer&rft.jtitle=The%20Journal%20of%20pediatrics&rft.au=Takada,%20Hidetoshi&rft.date=2006-04-01&rft.volume=148&rft.issue=4&rft.spage=546&rft.epage=548&rft.pages=546-548&rft.issn=0022-3476&rft.eissn=1097-6833&rft.coden=JOPDAB&rft_id=info:doi/10.1016/j.jpeds.2005.12.015&rft_dat=%3Cproquest_cross%3E67919011%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c387t-55476ed3cf1df8699a632ca86d3f17a5bf26913ad0c111155270c293f5c5a3d33%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=67919011&rft_id=info:pmid/16647421&rfr_iscdi=true