6409 lines
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Entry
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- *600065 - INTEGRIN, BETA-2; ITGB2
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*600065</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#evolution">Evolution</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600065">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000160255;t=ENST00000652462" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=3689" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=600065" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000160255;t=ENST00000652462" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000211,NM_001127491,NM_001303238,XM_006724001,XM_047440763" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000211" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=600065" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=02506&isoform_id=02506_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/ITGB2" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/245295,307113,762939,825636,4262803,4262804,7717438,13543407,16076592,17467030,62087398,62896569,119629786,119629787,119629788,119629789,119629790,193788296,194382706,578836536,632933279,632933281,632933283,632933285,632933287,632933289,632933291,632933293,632933296,632933298,632933300,632933302,632933304,632933306,632933309,632933311,632933313,632933316,632933319,632933321,632933323,632933325,632933327,632933330,632933332,632933334,735367775,735367803,735367906,1864205559,1983384608,1983384610,1983384612,1983384614,1983384616,1983384618,1983384620,1983384622,1983384624,1983384626,1983384628,1983384630,1983384632,1983384634,2048681401,2048681403,2048681405,2217337572,2462582492,2664702942" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P05107" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=3689" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000160255;t=ENST00000652462" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB2" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=ITGB2" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+3689" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/ITGB2" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:3689" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3689" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr21&hgg_gene=ENST00000652462.1&hgg_start=44885953&hgg_end=44928815&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6155" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/itgb2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600065[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=600065[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000160255" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=ITGB2" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=ITGB2" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ITGB2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://structure.bmc.lu.se/idbase/ITGB2base/" title="ITGB2base: Mutation registry for Leukocyte adhesion deficiency I (LAD-I)" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">ITGB2base: Mutation regist…</a></div><div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/ITGB2" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Mendelian genes (ITGB2)</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ITGB2&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA29955" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:6155" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0004657.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/search?q=MGI:1277979 MGI:96611" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/ITGB2#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/batch/summary?idType=MGI&ids=MGI:1277979 MGI:96611" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3689/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=000595,002073" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=3689" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00003930;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-110411-4" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3689" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=ITGB2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
600065
|
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</span>
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</span>
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</div>
|
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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INTEGRIN, BETA-2; ITGB2
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</span>
|
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
LEUKOCYTE CELL ADHESION MOLECULE CD18; CD18
|
|
</span>
|
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</h4>
|
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</div>
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</div>
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<a id="includedTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
LEUKOCYTE-ASSOCIATED ANTIGENS CD18/11A, CD18/11B, CD18/11C, INCLUDED
|
|
</span>
|
|
</div>
|
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|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ITGB2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ITGB2</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/21/166?start=-3&limit=10&highlight=166">21q22.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr21:44885953-44928815&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">21:44,885,953-44,928,815</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/21/166?start=-3&limit=10&highlight=166">
|
|
21q22.3
|
|
</a>
|
|
</span>
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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The leukocyte cell adhesion molecule belongs to the class of cell membrane glycoproteins known as integrins, which are alpha-beta heterodimers. The alpha subunits vary in size from 120 to 180 kD and each is noncovalently associated with a beta subunit (90 to 110 kD). There are 8 known beta subunits and 14 known alpha subunits. Although the alpha and beta subunits could in theory associate to give more than 100 integrin heterodimers, the diversity is restricted and different combinations are associated with different cell types (<a href="#29" class="mim-tip-reference" title="Hynes, R. O. <strong>Integrins: versatility, modulation and signaling in cell adhesion.</strong> Cell 69: 11-25, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1555235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1555235</a>] [<a href="https://doi.org/10.1016/0092-8674(92)90115-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1555235">Hynes, 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1555235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The beta-2 integrin chain gene is designated ITGB2 and the leukocyte antigen has been designated CD18. The 3 alpha integrin chains associated individually with the beta-2 chain as a heterodimer have gene designations of ITGAL (<a href="/entry/153370">153370</a>), ITGAM (<a href="/entry/120980">120980</a>), and ITGAX (<a href="/entry/151510">151510</a>), and leukocyte antigen designations of CD11A, CD11B, and CD11C, respectively.</p><p>The 3 integrin molecules associated with leukocyte adhesion deficiency have leukocyte antigen designations of (1) CD18/CD11A: also referred to as LFA-1, Leu CAMa, and integrin beta-2/alpha-L; (2) CD18/CD11B: also referred to as CR3, Leu CAMb, Mac-1, Mo1, OKM-1, and integrin beta-2/alpha-M; (3) CD18/CD11C: also referred to as p150 (p150, 95), Leu CAMc, and integrin beta-2/alpha-X (<a href="#12" class="mim-tip-reference" title="Barclay, A. N., Birkeland, M. L., Brown, M. H., Beyers, A. D., Davis, S. J., Somoza, C., Williams, A. F. <strong>The Leukocyte Antigen Facts Book.</strong> New York: Academic Press (pub.) 1993. Pp. 124-127 and 140-141."None>Barclay et al., 1993</a>).</p>
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<p>This glycoprotein family is conserved in mouse and human.</p>
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<p>By quantitative fluorescence flow cytometric analysis, <a href="#60" class="mim-tip-reference" title="Taylor, G. M., Williams, A., D'Souza, S. W., Fergusson, W. D., Donnai, D., Fennell, J., Harris, R. <strong>The expression of CD18 is increased on trisomy 21 (Down syndrome) lymphoblastoid cells.</strong> Clin. Exp. Immun. 71: 324-328, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2964960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2964960</a>]" pmid="2964960">Taylor et al. (1988)</a> showed that the expression of CD18 was increased in lymphoblastoid cells from persons with Down syndrome, consistent with the location of the gene on chromosome 21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2964960" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Bianchi, E., Denti, S., Granata, A., Bossi, G., Geginat, J., Villa, A., Rogge, L., Pardi, R. <strong>Integrin LFA-1 interacts with the transcriptional co-activator JAB1 to modulate AP-1 activity.</strong> Nature 404: 617-621, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10766246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10766246</a>] [<a href="https://doi.org/10.1038/35007098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10766246">Bianchi et al. (2000)</a> showed that JAB1 (<a href="/entry/604850">604850</a>) interacts with the cytoplasmic domain of the beta-2 subunit of the alpha-L/beta-2 integrin LFA-1. They demonstrated that a fraction of JAB1 colocalizes with LFA-1 at the cell membrane and that LFA-1 engagement is followed by an increase of the nuclear pool of JAB1, paralleled by enhanced binding of c-Jun-containing AP1 complexes to their DNA consensus site and increased transactivation of an AP1-dependent promoter. <a href="#14" class="mim-tip-reference" title="Bianchi, E., Denti, S., Granata, A., Bossi, G., Geginat, J., Villa, A., Rogge, L., Pardi, R. <strong>Integrin LFA-1 interacts with the transcriptional co-activator JAB1 to modulate AP-1 activity.</strong> Nature 404: 617-621, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10766246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10766246</a>] [<a href="https://doi.org/10.1038/35007098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10766246">Bianchi et al. (2000)</a> suggested that signaling through the LFA-1 integrin may affect c-Jun-driven transcription by regulating JAB1 nuclear localization. This represented a new pathway for integrin-dependent modulation of gene expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10766246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By yeast 2-hybrid analysis and leukocyte adhesion assays, <a href="#45" class="mim-tip-reference" title="Ostermann, G., Weber, K. S. C., Zernecke, A., Schroder, A., Weber, C. <strong>JAM-1 is a ligand of the beta-2 integrin LFA-1 involved in transendothelial migration of leukocytes.</strong> Nature Immun. 3: 151-158, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11812992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11812992</a>] [<a href="https://doi.org/10.1038/ni755" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11812992">Ostermann et al. (2002)</a> demonstrated that under both static and physiologic flow conditions, JAM1 (<a href="/entry/605721">605721</a>), through its membrane-proximal domain 2, is a ligand of the LFA-1 integrin that contributes to the LFA-1-dependent transendothelial migration of CD45RO (<a href="/entry/151460">151460</a>)-positive memory T cells expressing the CXCR4 (<a href="/entry/162643">162643</a>) chemokine receptor and of neutrophils. These interactions also facilitated LFA-1-mediated arrest of T cells. Activation of endothelium with inflammatory cytokines enhanced memory T-cell transmigration. <a href="#45" class="mim-tip-reference" title="Ostermann, G., Weber, K. S. C., Zernecke, A., Schroder, A., Weber, C. <strong>JAM-1 is a ligand of the beta-2 integrin LFA-1 involved in transendothelial migration of leukocytes.</strong> Nature Immun. 3: 151-158, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11812992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11812992</a>] [<a href="https://doi.org/10.1038/ni755" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11812992">Ostermann et al. (2002)</a> suggested that a complex interplay of heterophilic binding of LFA-1 to JAM1 and homophilic trans-interactions of JAM1 may provide a molecular 'zipper' for leukocyte transmigration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11812992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Lu, T. T., Cyster, J. G. <strong>Integrin-mediated long-term B cell retention in the splenic marginal zone.</strong> Science 297: 409-412, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12130787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12130787</a>] [<a href="https://doi.org/10.1126/science.1071632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12130787">Lu and Cyster (2002)</a> studied the mechanisms that control localization of marginal zone B cells. They demonstrated that marginal zone B cells express elevated levels of the integrins LFA-1 and alpha-4-beta-1 (see <a href="/entry/192975">192975</a> and <a href="/entry/135630">135630</a>), and that the marginal zone B cells bind to the ligands ICAM1 (<a href="/entry/147840">147840</a>) and VCAM1 (<a href="/entry/192225">192225</a>). These ligands are expressed within the marginal zone in a lymphotoxin-dependent manner. Combined inhibition of LFA-1 and alpha-4-beta-1 causes a rapid and selective release of B cells from the marginal zone. Furthermore, lipopolysaccharide-triggered marginal zone B cell relocalization involves downregulation of integrin-mediated adhesion. <a href="#38" class="mim-tip-reference" title="Lu, T. T., Cyster, J. G. <strong>Integrin-mediated long-term B cell retention in the splenic marginal zone.</strong> Science 297: 409-412, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12130787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12130787</a>] [<a href="https://doi.org/10.1126/science.1071632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12130787">Lu and Cyster (2002)</a> concluded that their studies identified key requirements for marginal zone B cell localization and established a role for integrins in peripheral lymphoid tissue compartmentalization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12130787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with features of Glanzmann thrombasthenia (see <a href="/entry/173470">173470</a>) and leukocyte adhesion deficiency-1 (LAD1; <a href="/entry/116920">116920</a>), <a href="#41" class="mim-tip-reference" title="McDowall, A., Inwald, D., Leitinger, B., Jones, A., Liesner, R., Klein, N., Hogg, N. <strong>A novel form of integrin dysfunction involving beta-1, beta-2, and beta-3 integrins.</strong> J. Clin. Invest. 111: 51-60, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12511588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12511588</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12511588[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI14076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12511588">McDowall et al. (2003)</a> identified a novel form of integrin dysfunction involving ITGB1 (<a href="/entry/135630">135630</a>), ITGB2, and ITGB3 (<a href="/entry/173470">173470</a>). ITGB2 and ITGB3 were constitutively clustered. Although all 3 integrins were expressed on the cell surface at normal levels and were capable of function following extracellular stimulation, they could not be activated via the 'inside-out' signaling pathways. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12511588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Kim, M., Carman, C. V., Springer, T. A. <strong>Bidirectional transmembrane signaling by cytoplasmic domain separation in integrins.</strong> Science 301: 1720-1725, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14500982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14500982</a>] [<a href="https://doi.org/10.1126/science.1084174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14500982">Kim et al. (2003)</a> investigated cytoplasmic conformational changes in the integrin LFA1 (alpha-L, <a href="/entry/153370">153370</a>; beta-2) in living cells by measuring fluorescence resonance energy transfer between cyan fluorescent protein-fused and yellow fluorescent protein-fused alpha-L and beta-2 cytoplasmic domains. In the resting state these domains were close to each other, but underwent significant spatial separation upon either intracellular activation of integrin adhesiveness (inside-out signaling) or ligand binding (outside-in signaling). Thus, bidirectional integrin signaling is accomplished by coupling extracellular conformational changes to an unclasping and separation of the alpha and beta cytoplasmic domains, which <a href="#31" class="mim-tip-reference" title="Kim, M., Carman, C. V., Springer, T. A. <strong>Bidirectional transmembrane signaling by cytoplasmic domain separation in integrins.</strong> Science 301: 1720-1725, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14500982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14500982</a>] [<a href="https://doi.org/10.1126/science.1084174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14500982">Kim et al. (2003)</a> noted as a distinctive mechanism for transmitting information across the plasma membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14500982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Cherry, L. K., Li, X., Schwab, P., Lim, B., Klickstein, L. B. <strong>RhoH is required to maintain the integrin LFA-1 in a nonadhesive state on lymphocytes.</strong> Nature Immun. 5: 961-967, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15300248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15300248</a>] [<a href="https://doi.org/10.1038/ni1103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15300248">Cherry et al. (2004)</a> generated T-cell clones expressing less than half the wildtype amount of RHOH (<a href="/entry/602037">602037</a>), a leukocyte-specific inhibitory Rho family member. Resting cells expressed constitutively adhesive LFA1 and bound spontaneously to ICAM1, ICAM2 (<a href="/entry/146630">146630</a>), and ICAM3 (<a href="/entry/146631">146631</a>). Reconstituting RHOH mRNA levels reverted the adhesion phenotype to that of relatively nonadhesive wildtype cells. Treatment of peripheral blood lymphocytes with RHOH RNA interference altered the nonadhesive phenotype. <a href="#18" class="mim-tip-reference" title="Cherry, L. K., Li, X., Schwab, P., Lim, B., Klickstein, L. B. <strong>RhoH is required to maintain the integrin LFA-1 in a nonadhesive state on lymphocytes.</strong> Nature Immun. 5: 961-967, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15300248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15300248</a>] [<a href="https://doi.org/10.1038/ni1103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15300248">Cherry et al. (2004)</a> concluded that RHOH is required for maintenance of lymphocyte LFA1 in a nonadhesive state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15300248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Lammermann, T., Bader, B. L., Monkley, S. J., Worbs, T., Wedlich-Soldner, R., Hirsch, K., Keller, M., Forster, R., Critchley, D. R., Fassler, R., Sixt, M. <strong>Rapid leukocyte migration by integrin-independent flowing and squeezing.</strong> Nature 453: 51-55, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18451854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18451854</a>] [<a href="https://doi.org/10.1038/nature06887" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18451854">Lammermann et al. (2008)</a> studied the interplay between adhesive, contractile, and protrusive forces during interstitial leukocyte chemotaxis in vivo and in vitro. The authors ablated genes encoding integrin heterodimeric partners ITGA5 (<a href="/entry/135620">135620</a>), ITGB1 (<a href="/entry/135630">135630</a>), ITGB2, and ITGB7 (<a href="/entry/147559">147559</a>) from murine leukocytes and demonstrated that functional integrins do not contribute to migration in 3-dimensional environments. Instead, these cells migrate by the sole force of actin network expansion, which promotes protrusive flowing of the leading edge. Myosin II-dependent contraction is required only on passage through narrow gaps, where a squeezing contraction of the trailing edge propels the rigid nucleus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18451854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#67" class="mim-tip-reference" title="Weitzman, J. B., Wells, C. E., Wright, A. H., Clark, P. A., Law, S. K. A. <strong>The gene organisation of the human beta-2 integrin subunit (CD18).</strong> FEBS Lett. 294: 97-103, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1683838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1683838</a>] [<a href="https://doi.org/10.1016/0014-5793(91)81351-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1683838">Weitzman et al. (1991)</a> determined that the ITGB2 gene spans approximately 40 kb and contains 16 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1683838" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Suomalainen et al. (<a href="#59" class="mim-tip-reference" title="Suomalainen, H. A., Gahmberg, C. G., Patarroyo, M., Schroder, J. <strong>GP90 (Leu-CAM antigen) is coded for by genes on chromosome 21. (Abstract)</strong> Cytogenet. Cell Genet. 40: 755, 1985."None>1985</a>, <a href="#58" class="mim-tip-reference" title="Suomalainen, H. A., Gahmberg, C. G., Patarroyo, M., Beatty, P. G., Schroder, J. <strong>Genetic assignment of GP90, leukocyte adhesion glycoprotein to human chromosome 21.</strong> Somat. Cell Molec. Genet. 12: 297-302, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2872730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2872730</a>] [<a href="https://doi.org/10.1007/BF01570789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2872730">1986</a>) showed that the integrin beta-2 gene is located on chromosome 21. The method used involved somatic cell hybrids between mouse and human lymphocytes, indirect immunofluorescence, and cell sorting. By somatic cell hybridization, <a href="#2" class="mim-tip-reference" title="Akao, Y., Utsumi, K. R., Naito, K., Ueda, R., Takahashi, T., Yamada, K. <strong>Chromosomal assignments of genes coding for human leukocyte common antigen, T-200, and lymphocyte function-associated antigen 1, LFA-1 beta subunit.</strong> Somat. Cell Molec. Genet. 13: 273-278, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2955527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2955527</a>] [<a href="https://doi.org/10.1007/BF01535209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2955527">Akao et al. (1987)</a> confirmed the chromosomal assignment. By human-mouse T-cell fusion studies, <a href="#39" class="mim-tip-reference" title="Marlin, S. D., Morton, C. C., Anderson, D. C., Springer, T. A. <strong>LFA-1 immunodeficiency disease: definition of the genetic defect and chromosomal mapping of alpha and beta subunits of the lymphocyte function-associated antigen 1 (LFA-1) by complementation in hybrid cells.</strong> J. Exp. Med. 164: 855-867, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3528378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3528378</a>] [<a href="https://doi.org/10.1084/jem.164.3.855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3528378">Marlin et al. (1986)</a> also showed that the beta subunit maps to chromosome 21. Using a cDNA probe for in situ hybridization, <a href="#54" class="mim-tip-reference" title="Solomon, E., Palmer, R. W., Hing, S., Law, S. K. A. <strong>Regional localization of CD18, the beta-subunit of the cell surface adhesion molecule LFA-1, on human chromosome 21 by in situ hybridization.</strong> Ann. Hum. Genet. 52: 123-128, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3073708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3073708</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1988.tb01087.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3073708">Solomon et al. (1988)</a> localized the ITGB2 (CD18) gene to 21q22.1-qter. <a href="#46" class="mim-tip-reference" title="Petersen, M. B., Slaugenhaupt, S. A., Lewis, J. G., Warren, A. C., Chakravarti, A., Antonarakis, S. E. <strong>A genetic linkage map of 27 markers on human chromosome 21.</strong> Genomics 9: 407-419, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1674496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1674496</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90406-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1674496">Petersen et al. (1991)</a> assigned CD18 to 21q22.3 and positioned it in that band relative to 15 other genes or DNA markers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2872730+1674496+2955527+3073708+3528378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Mutations in the beta-2 subunit of the leukocyte cell adhesion molecule have been found to cause the autosomal recessive disorder of neutrophil function known as leukocyte adhesion deficiency. LAD is characterized by recurrent bacterial infections and a lack of beta-2/alpha-L (see <a href="/entry/153370">153370</a>), beta-2/alpha-M (see <a href="/entry/120980">120980</a>), and beta-2/alpha-X (see <a href="/entry/151510">151510</a>) expression.</p><p>In a patient with LAD deficiency, <a href="#6" class="mim-tip-reference" title="Arnaout, M. A., Dana, N., Gupta, S. K., Tenen, D. G., Fathallah, D. M. <strong>Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency.</strong> J. Clin. Invest. 85: 977-981, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1968911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1968911</a>] [<a href="https://doi.org/10.1172/JCI114529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1968911">Arnaout et al. (1990)</a> identified compound heterozygous mutations in the CD18 gene (<a href="#0001">600065.0001</a>-<a href="#0002">600065.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1968911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 patients with LAD deficiency, <a href="#65" class="mim-tip-reference" title="Wardlaw, A. J., Hibbs, M. L., Stacker, S. A., Springer, T. A. <strong>Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.</strong> J. Exp. Med. 172: 335-345, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1694220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1694220</a>] [<a href="https://doi.org/10.1084/jem.172.1.335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1694220">Wardlaw et al. (1990)</a> identified mutations in the CD18 gene (<a href="#0003">600065.0003</a>; <a href="#0004">600065.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1694220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#48" class="mim-tip-reference" title="Rivera-Matos, I. R., Rakita, R. M., Mariscalco, M. M., Elder, F. F. B., Dreyer, S. A., Cleary, T. G. <strong>Leukocyte adhesion deficiency mimicking Hirschsprung disease.</strong> J. Pediat. 127: 755-757, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7472832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7472832</a>] [<a href="https://doi.org/10.1016/s0022-3476(95)70169-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7472832">Rivera-Matos et al. (1995)</a> described an infant in whom clinical signs suggesting Hirschsprung disease were the initial manifestation of LAD. Chromosome studies showed a deletion of the distal third of the long arm of one chromosome 21, and flow cytometric studies confirmed the defective expression of CD18. Leukocyte adhesion deficiency was suspected because of leukocytosis, poor wound healing, frequent infections, and biopsy specimens showing a paucity of neutrophils. It seems quite possible that the patient indeed had Hirschsprung disease as well as leukocyte adhesion deficiency. Aganglionic megacolon is a frequent finding in trisomy 21 and preliminary evidence for a genetic modifier of Hirschsprung disease on 21q22 has been presented (<a href="/entry/600156">600156</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7472832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#69" class="mim-tip-reference" title="Wilson, R. W., Ballantyne, C. M., Smith, C. W., Montgomery, C., Bradley, A., O'Brien, W. E., Beaudet, A. L. <strong>Gene targeting yields a CD18-mutant mouse for study of inflammation.</strong> J. Immun. 151: 1571-1578, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8101543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8101543</a>]" pmid="8101543">Wilson et al. (1993)</a> found that a hypomorphic mutation in CD18, generated by gene targeting in mice, showed in homozygosity increased circulating neutrophil counts, defects in the response to chemically induced peritonitis, and delays in transplantation rejection. When this mutation was backcrossed onto the PL/J inbred strain by <a href="#17" class="mim-tip-reference" title="Bullard, D. C., Scharffetter-Kochanek, K., McArthur, M. J., Chosay, J. G., McBride, M. E., Montgomery, C. A., Beaudet, A. L. <strong>A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.</strong> Proc. Nat. Acad. Sci. 93: 2116-2121, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8700894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8700894</a>] [<a href="https://doi.org/10.1073/pnas.93.5.2116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8700894">Bullard et al. (1996)</a>, virtually all homozygous mice developed a chronic inflammatory skin disease with a mean age of onset of 11 weeks after birth. The disease was characterized by erythema, hair loss, and the development of scales and crusts. The histopathology revealed changes of a type found in human psoriasis (<a href="/entry/177900">177900</a>) and other hyperproliferative inflammatory skin disorders. No bacterial or fungal organisms were found to be involved in the pathogenesis of the disease, and the dermatitis resolved rapidly after subcutaneous administration of dexamethasone. The findings of <a href="#17" class="mim-tip-reference" title="Bullard, D. C., Scharffetter-Kochanek, K., McArthur, M. J., Chosay, J. G., McBride, M. E., Montgomery, C. A., Beaudet, A. L. <strong>A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.</strong> Proc. Nat. Acad. Sci. 93: 2116-2121, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8700894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8700894</a>] [<a href="https://doi.org/10.1073/pnas.93.5.2116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8700894">Bullard et al. (1996)</a> were notable since no comparable skin disease had been reported in humans or cattle with LAD deficiency type I and since this disorder did not occur in mice when the mutation was studied on a C57BL/6 or 129/Sv background. From backcross experiments the authors suggested that a small number of genes (perhaps as few as one), in addition to CD18, determined susceptibility to the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8101543+8700894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#63" class="mim-tip-reference" title="Vazquez-Torres, A., Jones-Carson, J., Baumler, A. J., Falkow, S., Valdivia, R., Brown, W., Le, M., Berggren, R., Parks, W. T., Fang, F. C. <strong>Extraintestinal dissemination of Salmonella by CD18-expressing phagocytes.</strong> Nature 401: 804-808, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10548107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10548107</a>] [<a href="https://doi.org/10.1038/44593" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10548107">Vazquez-Torres et al. (1999)</a> reported that Salmonella is transported from the gastrointestinal tract to the bloodstream by CD18-expressing phagocytes, and that CD18-deficient mice are resistant to dissemination of Salmonella to the liver and spleen after oral administration. <a href="#63" class="mim-tip-reference" title="Vazquez-Torres, A., Jones-Carson, J., Baumler, A. J., Falkow, S., Valdivia, R., Brown, W., Le, M., Berggren, R., Parks, W. T., Fang, F. C. <strong>Extraintestinal dissemination of Salmonella by CD18-expressing phagocytes.</strong> Nature 401: 804-808, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10548107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10548107</a>] [<a href="https://doi.org/10.1038/44593" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10548107">Vazquez-Torres et al. (1999)</a> hypothesized that the CD18-dependent pathway of extraintestinal dissemination may be important for the development of systemic immunity to gastrointestinal pathogens, because oral challenge with Salmonella pathogenicity island-1 (SPI1)-deficient S. typhimurium elicits a specific systemic IgG humoral immune response, despite an inability to stimulate production of specific mucosal IgA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10548107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#37" class="mim-tip-reference" title="Lee, S.-H., Prince, J. E., Rais, M., Kheradmand, F., Shardonofsky, F., Lu, H., Beaudet, A. L., Smith, C. W., Soong, L., Corry, D. B. <strong>Differential requirement for CD18 in T-helper effector homing.</strong> Nature Med. 9: 1281-1286, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14502280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14502280</a>] [<a href="https://doi.org/10.1038/nm932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14502280">Lee et al. (2003)</a> generated mice lacking Cd18. In vitro, activated lymphocytes from these mice had normal Th1 and Th2 cytokine production. The Cd18 -/- mice were more resistant than C57BL/6 mice to challenge with Leishmania major, but they were also resistant to allergic lung inflammation, even though they produced amounts of T cell-dependent allergen-specific antibody comparable to wildtype mice. The authors found that disease production required the homing of Th2 cells (IL4-positive) to the lungs, and this migration was impaired in Cd18 -/- mice and in mice treated with anti-Cd18. <a href="#37" class="mim-tip-reference" title="Lee, S.-H., Prince, J. E., Rais, M., Kheradmand, F., Shardonofsky, F., Lu, H., Beaudet, A. L., Smith, C. W., Soong, L., Corry, D. B. <strong>Differential requirement for CD18 in T-helper effector homing.</strong> Nature Med. 9: 1281-1286, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14502280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14502280</a>] [<a href="https://doi.org/10.1038/nm932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14502280">Lee et al. (2003)</a> proposed that integrin blockade could be a tactic for selectively excluding Th2 cells under diverse inflammatory conditions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14502280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Miura, Y., Miura, M., Gronthos, S., Allen, M. R., Cao, C., Uveges, T. E., Bi, Y., Ehirchiou, D., Kortesidis, A., Shi, S., Zhang, L. <strong>Defective osteogenesis of the stromal stem cells predisposes CD18-null mice to osteoporosis.</strong> Proc. Nat. Acad. Sci. 102: 14022-14027, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16172402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16172402</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16172402[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0409397102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16172402">Miura et al. (2005)</a> found that Cd18-null mice had defective osteoclastogenesis due to reduced expression of the osteogenic master regulator Runx2 (<a href="/entry/600211">600211</a>). Radiographic analysis of Cd18-null mice showed reduced bone mineral density and features of osteoporosis. Cd18 was expressed by bone marrow stromal stem cells, and constitutive overexpression of Cd18 in this cell population in normal mice enhanced bone formation. The authors suggested that LAD patients may be predisposed to develop osteoporosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16172402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>15 Selected Examples</a>):</strong>
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<a href="/allelicVariants/600065" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=600065[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852609 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852609;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852609?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852609" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852609" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000799618 OR RCV003407313 OR RCV004794327" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000799618, RCV003407313, RCV004794327" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000799618...</a>
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<p><a href="#6" class="mim-tip-reference" title="Arnaout, M. A., Dana, N., Gupta, S. K., Tenen, D. G., Fathallah, D. M. <strong>Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency.</strong> J. Clin. Invest. 85: 977-981, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1968911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1968911</a>] [<a href="https://doi.org/10.1172/JCI114529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1968911">Arnaout et al. (1990)</a> found that a patient with leukocyte adhesion deficiency (LAD1; <a href="/entry/116920">116920</a>) was compound heterozygous for 2 mutations in the CD18 gene: arg593-to-cys and lys196-to-thr. These amino acids lie in regions necessary for normal cell surface expression of CD18 and possibly other integrin-beta subunits. <a href="#6" class="mim-tip-reference" title="Arnaout, M. A., Dana, N., Gupta, S. K., Tenen, D. G., Fathallah, D. M. <strong>Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency.</strong> J. Clin. Invest. 85: 977-981, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1968911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1968911</a>] [<a href="https://doi.org/10.1172/JCI114529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1968911">Arnaout et al. (1990)</a> demonstrated that each mutant allele resulted in impaired CD18 expression on the cell surface membrane of transfected COS M6 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1968911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852610 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852610;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852610?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010067" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010067" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010067</a>
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<p>For discussion of the lys196-to-thr (K196T) mutation in the CD18 gene that was found in compound heterozygous state in a patient with leukocyte adhesion deficiency (LAD1; <a href="/entry/116920">116920</a>) by <a href="#6" class="mim-tip-reference" title="Arnaout, M. A., Dana, N., Gupta, S. K., Tenen, D. G., Fathallah, D. M. <strong>Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency.</strong> J. Clin. Invest. 85: 977-981, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1968911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1968911</a>] [<a href="https://doi.org/10.1172/JCI114529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1968911">Arnaout et al. (1990)</a>, see <a href="#0001">600065.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1968911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
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ITGB2, LEU149PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852611 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852611;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852611" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852611" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010068" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010068" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010068</a>
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<p>In a patient (patient 14) with moderately severe leukocyte adhesion deficiency (LAD1; <a href="/entry/116920">116920</a>), <a href="#65" class="mim-tip-reference" title="Wardlaw, A. J., Hibbs, M. L., Stacker, S. A., Springer, T. A. <strong>Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.</strong> J. Exp. Med. 172: 335-345, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1694220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1694220</a>] [<a href="https://doi.org/10.1084/jem.172.1.335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1694220">Wardlaw et al. (1990)</a> demonstrated a T-to-C transition in the CD18 gene, resulting in substitution of proline for leucine-149. Cotransfection of the beta subunit cDNA containing this mutation with the wildtype alpha subunit of LFA-1 in a mammalian expression system resulted in no expression of LFA-1. Normal life of the mutant beta subunits and previous demonstration of the lack of alpha/beta complex formation during biosynthesis in the patient's cells suggested a defect in association with the alpha subunit. Loss of functional expression of this beta-subunit mutation suggests that it lies in a site critical for association with the alpha subunit. (In MIM10, this mutation was incorrectly listed as pro149-to-leu. The wildtype residue is leu (<a href="#11" class="mim-tip-reference" title="Bairoch, A. <strong>Personal Communication.</strong> Geneva, Switzerland 5/13/1994."None>Bairoch, 1994</a>).) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1694220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852612 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852612;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010069" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010069" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010069</a>
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<p>In a patient (patient 2) with severe leukocyte adhesion deficiency (LAD1; <a href="/entry/116920">116920</a>), <a href="#65" class="mim-tip-reference" title="Wardlaw, A. J., Hibbs, M. L., Stacker, S. A., Springer, T. A. <strong>Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.</strong> J. Exp. Med. 172: 335-345, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1694220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1694220</a>] [<a href="https://doi.org/10.1084/jem.172.1.335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1694220">Wardlaw et al. (1990)</a> demonstrated a G-to-A transition in the CD18 gene, resulting in a glycine-to-arginine change at amino acid 169 of the beta subunit. As in the case of the leu149-to-pro mutation, there appeared to be interference with association between the mutant beta subunit and the normal alpha subunit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1694220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<strong>.0005 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
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ITGB2, INITIATION MUTATION
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906411 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906411;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010070" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010070" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010070</a>
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<p><a href="#53" class="mim-tip-reference" title="Sligh, J. E., Jr., Anderson, D. C., Beaudet, A. L. <strong>A mutation in the initiation codon of the CD18 gene in a patient with the moderate phenotype of leukocyte adhesion deficiency. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A219, 1989."None>Sligh et al. (1989)</a> found an ATG-to-AAG alteration in the initiation codon of the CD18 gene in a patient with moderately severe leukocyte adhesion deficiency (LAD1; <a href="/entry/116920">116920</a>). In fact, the patient was a genetic compound; the particular mutation was found in the patient and in the father.</p>
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<a id="0006" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0006 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
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ITGB2, ARG586TRP AND 12-BP INS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs5030672 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs5030672;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs5030672?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs5030672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs5030672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000990357 OR RCV001212520 OR RCV001376111 OR RCV001723557 OR RCV001729344 OR RCV003914825" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000990357, RCV001212520, RCV001376111, RCV001723557, RCV001729344, RCV003914825" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000990357...</a>
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<p>In a patient with partial leukocyte adhesion deficiency (LAD1; <a href="/entry/116920">116920</a>) who was previously reported by <a href="#8" class="mim-tip-reference" title="Arnaout, M. A., Spits, H., Terhorst, C., Pitt, J., Todd, R. F., III. <strong>Deficiency of a leukocyte surface glycoprotein (LFA-1) in two patients with Mo1 deficiency: effects of cell activation on Mo1/LFA-1 surface expression in normal and deficient leukocytes.</strong> J. Clin. Invest. 74: 1291-1300, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6237120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6237120</a>] [<a href="https://doi.org/10.1172/JCI111539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6237120">Arnaout et al. (1984)</a>, <a href="#43" class="mim-tip-reference" title="Nelson, C., Rabb, H., Arnaout, M. A. <strong>Genetic cause of leukocyte adhesion molecule deficiency: abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta-2 integrins.</strong> J. Biol. Chem. 267: 3351-3357, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1346613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1346613</a>]" pmid="1346613">Nelson et al. (1992)</a> demonstrated 2 mutant alleles in the CD18 gene. The allele from the mother contained 2 mutations: a 12-bp insertion resulting in an in-frame addition of 4 amino acids (pro-ser-ser-gln) between proline-247 and glutamic acid-248, and a 1756C-T nucleotide transition resulting in an arg586-to-trp substitution in the CD18 protein. The 12-bp insertion arose by a single C-to-A transversion in the 3-prime terminus of an intron, generating an aberrant splice acceptor site. COS cells cotransfected with a normal alpha chain gene (CD11B) and the mother's doubly mutant allele showed no surface expression of CD18; when transfected with the arg586-to-trp mutant gene, expression was 22% of normal. The other allele, which was not present in either parent, contained a 1052A-G transition, resulting in an asn351-to-ser (N351S; <a href="#0008">600065.0008</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1346613+6237120" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 MOVED TO <a href="/entry/600065#0006">600065.0006</a></strong>
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</h4>
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<a id="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
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</span>
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</h4>
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</div>
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ITGB2, ASN351SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852613 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852613;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852613" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852613" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010073" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010073" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010073</a>
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<span class="mim-text-font">
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<p>For discussion of the 1052A-G transition in the CD18 gene, resulting in substitution of serine for asparagine-351 (N351S), that was found in compound heterozygous state in a patient with leukocyte adhesion deficiency-1 (LAD1; <a href="/entry/116920">116920</a>) by <a href="#43" class="mim-tip-reference" title="Nelson, C., Rabb, H., Arnaout, M. A. <strong>Genetic cause of leukocyte adhesion molecule deficiency: abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta-2 integrins.</strong> J. Biol. Chem. 267: 3351-3357, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1346613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1346613</a>]" pmid="1346613">Nelson et al. (1992)</a>, see <a href="#0006">600065.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1346613" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0009 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
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ITGB2, PRO178LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852614 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852614;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852614?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010074" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010074" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010074</a>
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<p>In a child with severe leukocyte adhesion deficiency (LAD1; <a href="/entry/116920">116920</a>), <a href="#10" class="mim-tip-reference" title="Back, A. L., Kwok, W. W., Hickstein, D. D. <strong>Identification of two molecular defects in a child with leukocyte adherence deficiency.</strong> J. Biol. Chem. 267: 5482-5487, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1347532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1347532</a>]" pmid="1347532">Back et al. (1992)</a> found compound heterozygous mutations in the CD18 gene. One allele had a C-to-T transition at nucleotide 606, resulting in substitution of leucine for proline at amino acid 178. The change occurred in a region that is highly conserved among the integrin beta subunits and where previous defects had been identified in LAD. The other allele had a 220-bp deletion in the cDNA coding for a portion of the extracellular domain, which resulted in a frameshift and a premature stop codon. The deleted region corresponded to exon 13 of the ITGB2 (CD18) gene. The patient had previously been reported by <a href="#16" class="mim-tip-reference" title="Bowen, T. J., Ochs, H. D., Altman, L. C., Price, T. H., Van Epps, D. E., Brautigan, D. L., Rosin, R. E., Perkins, W. D., Babior, B. M., Klebanoff, S. J., Wedgwood, R. J. <strong>Severe recurrent bacterial infections associated with defective adherence and chemotaxis in two patients with neutrophils deficient in a cell-associated glycoprotein.</strong> J. Pediat. 101: 932-940, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7143170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7143170</a>] [<a href="https://doi.org/10.1016/s0022-3476(82)80013-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7143170">Bowen et al. (1982)</a> and <a href="#13" class="mim-tip-reference" title="Beatty, P. G., Ochs, H. D., Harlan, J. M., Price, T. H., Rosen, H., Taylor, R. F., Hansen, J. A., Klebanoff, S. J. <strong>Absence of monoclonal-antibody-defined protein complex in a boy with abnormal leucocyte function.</strong> Lancet 323: 535-537, 1984. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6142255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6142255</a>] [<a href="https://doi.org/10.1016/s0140-6736(84)90933-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6142255">Beatty et al. (1984)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1347532+7143170+6142255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0010 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
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ITGB2, ASP128ASN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852615 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852615;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852615?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010075 OR RCV004719635" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010075, RCV004719635" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010075...</a>
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<p>In a patient with leukocyte adhesion deficiency (LAD1; <a href="/entry/116920">116920</a>), <a href="#40" class="mim-tip-reference" title="Matsuura, S., Kishi, F., Tsukahara, M., Nunoi, H., Matsuda, I., Kobayashi, K., Kajii, T. <strong>Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form.</strong> Biochem. Biophys. Res. Commun. 184: 1460-1467, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1590804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1590804</a>] [<a href="https://doi.org/10.1016/s0006-291x(05)80047-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1590804">Matsuura et al. (1992)</a> identified a G-to-A transition at nucleotide 454 of the CD18 gene, which resulted in an asp128-to-asn substitution. The asp128 residue is located in a region which is crucial for the association of beta subunits with alpha subunits and is strictly conserved among the integrin beta subunits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1590804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs201752283 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201752283;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs201752283?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs201752283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs201752283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000087127" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087127" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087127</a>
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<p>In a patient with leukocyte adhesion deficiency (LAD1; <a href="/entry/116920">116920</a>), <a href="#40" class="mim-tip-reference" title="Matsuura, S., Kishi, F., Tsukahara, M., Nunoi, H., Matsuda, I., Kobayashi, K., Kajii, T. <strong>Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form.</strong> Biochem. Biophys. Res. Commun. 184: 1460-1467, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1590804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1590804</a>] [<a href="https://doi.org/10.1016/s0006-291x(05)80047-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1590804">Matsuura et al. (1992)</a> identified a G-to-A substitution at the first nucleotide of the splice donor site of a 1.2-kb intron in the CD18 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1590804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
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ITGB2, GLY284SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852616 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852616;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852616?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000705990 OR RCV001266603 OR RCV002254903" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000705990, RCV001266603, RCV002254903" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000705990...</a>
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<p>In an 18-year-old girl reported by <a href="#16" class="mim-tip-reference" title="Bowen, T. J., Ochs, H. D., Altman, L. C., Price, T. H., Van Epps, D. E., Brautigan, D. L., Rosin, R. E., Perkins, W. D., Babior, B. M., Klebanoff, S. J., Wedgwood, R. J. <strong>Severe recurrent bacterial infections associated with defective adherence and chemotaxis in two patients with neutrophils deficient in a cell-associated glycoprotein.</strong> J. Pediat. 101: 932-940, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7143170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7143170</a>] [<a href="https://doi.org/10.1016/s0022-3476(82)80013-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7143170">Bowen et al. (1982)</a> with moderately severe leukocyte adhesion deficiency-1 (LAD1; <a href="/entry/116920">116920</a>), <a href="#9" class="mim-tip-reference" title="Back, A. L., Kerkering, M., Baker, D., Bauer, T. R., Embree, L. J., Hickstein, D. D. <strong>A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity.</strong> Biochem. Biophys. Res. Commun. 193: 912-918, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7686755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7686755</a>] [<a href="https://doi.org/10.1006/bbrc.1993.1712" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7686755">Back et al. (1993)</a> found a single base substitution in the CD18 gene resulting in a glycine284-to-serine substitution. The change occurred in a highly conserved region of the extracellular domain in which several other mutations had been identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7143170+7686755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0013 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852617 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852617;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010078" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010078" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010078</a>
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<p><a href="#28" class="mim-tip-reference" title="Hogg, N., Stewart, M. P., Scarth, S. L., Newton, R., Shaw, J. M., Law, S. K. A., Klein, N. <strong>A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta-2 integrins Mac-1 and LFA-1.</strong> J. Clin. Invest. 103: 97-106, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9884339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9884339</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9884339[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI3312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9884339">Hogg et al. (1999)</a> described a patient with clinical features compatible with a markedly severe phenotype of leukocyte adhesion deficiency (LAD1; <a href="/entry/116920">116920</a>) who was found to express the beta-2 integrins LFA-1 and Mac-1 at 40 to 60% of normal levels. This level of expression should be adequate for normal integrin function, but both the patient's Mac-1 on neutrophils and LFA-1 on T cells failed to bind ligands such as fibrinogen and intercellular adhesion molecule-1 (ICAM1; <a href="/entry/147840">147840</a>), or to display a beta-2 integrin activation epitope after adhesion-inducing stimuli. Unexpectedly, divalent cation treatment induced the patient's T cells to bind to ICAM2 (<a href="/entry/146630">146630</a>) and ICAM3 (<a href="/entry/146631">146631</a>). Sequencing of the patient's 2 CD18 alleles revealed compound heterozygosity of 2 missense mutations, S138P and G273R (<a href="#0014">600065.0014</a>). Both mutations were in the beta-2-subunit conserved domain, with S138P a putative divalent cation coordinating residue in the metal ion-dependent adhesion site (MIDAS) motif. After transfection of K562 cells with alpha subunits, the mutated S138P beta-subunit was coexpressed but did not support function, whereas the G273R mutant was not expressed. Thus, the patient exhibited failure of the beta-2 integrins to function despite adequate levels of cell surface expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9884339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The 15-year-old patient studied by <a href="#28" class="mim-tip-reference" title="Hogg, N., Stewart, M. P., Scarth, S. L., Newton, R., Shaw, J. M., Law, S. K. A., Klein, N. <strong>A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta-2 integrins Mac-1 and LFA-1.</strong> J. Clin. Invest. 103: 97-106, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9884339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9884339</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9884339[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI3312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9884339">Hogg et al. (1999)</a> first presented as an infant with severe and recurrent skin infections requiring prolonged treatment with intravenous antibiotics and surgery to remove necrotic tissue. In spite of attentive oral hygiene, the patient suffered from severe periodontitis and gingivitis. Otitis media and chest infections had also been consistent features. Organisms isolated from infected sites included Staphylococcus aureus, Pseudomonas, and Streptococcus species. The neutrophil count was persistently elevated, reaching peaks of more than 10 times normal at times of infection. Phagocytosis by the patient's neutrophils was less than 25% that of a healthy adult control. On the other hand, respiratory burst was either normal or slightly enhanced, and intracellular killing of S. epidermidis was within normal limits. Therefore, although the uptake of the organisms was faulty, intracellular processes by which phagocytes deal with bacteria appeared normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9884339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852618 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852618;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852618?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000355931 OR RCV000768241" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000355931, RCV000768241" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000355931...</a>
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<p>For discussion of the gly273-to-arg (G273R) substitution in the ITGB2 gene that was found in compound heterozygous state in a patient with leukocyte adhesion deficiency-1 (LAD1; <a href="/entry/116920">116920</a>) by <a href="#28" class="mim-tip-reference" title="Hogg, N., Stewart, M. P., Scarth, S. L., Newton, R., Shaw, J. M., Law, S. K. A., Klein, N. <strong>A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta-2 integrins Mac-1 and LFA-1.</strong> J. Clin. Invest. 103: 97-106, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9884339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9884339</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9884339[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI3312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9884339">Hogg et al. (1999)</a>, see <a href="#0013">600065.0013</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9884339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0015" class="mim-anchor"></a>
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<strong>.0015 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
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<p>By studying a herpesvirus saimiri-transformed T cell line from a patient with severe leukocyte adhesion deficiency (LAD1; <a href="/entry/116920">116920</a>), <a href="#3" class="mim-tip-reference" title="Allende, L. M., Hernandez, M., Corell, A., Garcia-Perez, M. A., Varela, P., Moreno, A., Caragol, I., Garcia-Martin, F., Guillen-Perales, J., Olive, T., Espanol, T., Arnaiz-Villena, A. <strong>A novel CD18 genomic deletion in a patient with severe leucocyte adhesion deficiency: a possible CD2/lymphocyte function-associated antigen-1 functional association in humans.</strong> Immunology 99: 440-450, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10712675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10712675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10712675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1046/j.1365-2567.2000.00960.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10712675">Allende et al. (2000)</a> identified a 169-bp genomic deletion in the ITGB2 gene (from -37 of intron 4 to +132 of exon 5) that abolished the intron 4 acceptor splicing site, resulting in the total skipping of exon 5. The genomic deletion led to a 171-bp in-frame mRNA deletion (nucleotides 329 to 500) that resulted in the absence of cell surface and cytoplasmic CD18 expression. Functional analysis showed a severe, selective T-cell activation impairment in the CD2 but not the CD3 pathway. The male patient, whose father was not known and who had no family history of LAD, died at age 12 months after unsuccessful bone marrow transplants at 7 and 10 months of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10712675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Abramson1981" class="mim-tip-reference" title="Abramson, J. S., Mills, E. L., Sawyer, M. K., Regelmann, W. R., Nelson, J. D., Quie, P. G. <strong>Recurrent infections and delayed separation of the umbilical cord in an infant with abnormal phagocytic cell locomotion and oxidative response during particle phagocytosis.</strong> J. Pediat. 99: 887-894, 1981.">Abramson et al. (1981)</a>; <a href="#Anderson1985" class="mim-tip-reference" title="Anderson, D. C., Schmalstieg, F. C., Finegold, M. J., Hughes, B. J., Rothlein, R., Miller, L. J., Kohl, S., Tosi, M. F., Jacobs, R. L., Waldrop, T. C., Goldman, A. S., Shearer, W. T., Springer, T. A. <strong>The severe and moderate phenotypes of heritable Mac-1, LFA-1 deficiency: their quantitative definition and relation to leukocyte dysfunction and clinical features.</strong> J. Infect. Dis. 152: 668-689, 1985.">Anderson et al. (1985)</a>; <a href="#Anderson1987" class="mim-tip-reference" title="Anderson, D. C., Springer, T. A. <strong>Leukocyte adhesion deficiency: an inherited defect in the Mac-1, LFA-1, and p150,95 glycoproteins.</strong> Annu. Rev. Med. 38: 175-194, 1987.">Anderson and Springer
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(1987)</a>; <a href="#Arnaout1982" class="mim-tip-reference" title="Arnaout, M. A., Pitt, J., Cohen, H. J., Melamed, J., Rosen, F. S., Colten, H. R. <strong>Deficiency of a granulocyte-membrane glycoprotein (gp150) in a boy with recurrent bacterial infections.</strong> New Eng. J. Med. 306: 693-699, 1982.">Arnaout et al. (1982)</a>; <a href="#Bissenden1981" class="mim-tip-reference" title="Bissenden, J. G., Haeney, M. R., Tarlow, M. J., Thompson, R. A. <strong>Delayed separation of the umbilical cord, severe widespread infections, and immunodeficiency.</strong> Arch. Dis. Child. 56: 397-399, 1981.">Bissenden et al. (1981)</a>; <a href="#Crowley1980" class="mim-tip-reference" title="Crowley, C. A., Curnutte, J. T., Rosin, R. E., Andre-Schwartz, J., Gallin, J. I., Klempner, M., Snyderman, R., Southwick, F. S., Stossel, T. P., Babior, B. M. <strong>An inherited abnormality of neutrophil adhesion: its genetic transmission and its association with a missing protein.</strong> New Eng. J. Med. 302: 1163-1168, 1980.">Crowley et
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al. (1980)</a>; <a href="#Dana1987" class="mim-tip-reference" title="Dana, N., Clayton, L. K., Tennen, D. G., Pierce, M. W., Lachmann, P. J., Law, S. A., Arnaout, M. A. <strong>Leukocytes from four patients with complete or partial Leu-CAM deficiency contain the common beta-subunit precursor and beta-subunit messenger RNA.</strong> J. Clin. Invest. 79: 1010-1015, 1987.">Dana et al. (1987)</a>; <a href="#Dana1984" class="mim-tip-reference" title="Dana, N., Todd, R. F., III, Pitt, J., Springer, T. A., Arnaout, M. A. <strong>Deficiency of a surface membrane glycoprotein (Mo1) in man.</strong> J. Clin. Invest. 73: 153-159, 1984.">Dana et al. (1984)</a>; <a href="#Fischer1986" class="mim-tip-reference" title="Fischer, A., Friedrich, W., Levinsky, R., Vossen, J., Griscelli, C., Kubanek, B., Morgan, G., Wagemaker, G., Landais, P. <strong>Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985.</strong> Lancet 328: 1080-1084, 1986. Note: Originally Volume II.">Fischer et al.
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(1986)</a>; <a href="#Fujita1985" class="mim-tip-reference" title="Fujita, K., Kobayashi, K., Kajii, T. <strong>Impaired neutrophil adhesion: a new patient in a previously reported family.</strong> Acta Paediat. Jpn. 27: 527-534, 1985.">Fujita et al. (1985)</a>; <a href="#Fujita1988" class="mim-tip-reference" title="Fujita, K., Kobayashi, K., Okino, F. <strong>Juvenile rheumatoid arthritis in two siblings with congenital leucocyte adhesion deficiency.</strong> Europ. J. Pediat. 148: 118-119, 1988.">Fujita et al. (1988)</a>; <a href="#Harvath1979" class="mim-tip-reference" title="Harvath, L., Andersen, B. R. <strong>Defective initiation of oxidative metabolism in polymorphonuclear leukocytes.</strong> New Eng. J. Med. 300: 1130-1135, 1979.">Harvath and
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Andersen (1979)</a>; <a href="#Hayward1979" class="mim-tip-reference" title="Hayward, A. R., Leonard, J., Harvey, B. A. M., Greenwood, M. C., Wood, C. B. S., Soothill, J. F. <strong>Delayed separation of the umbilical cord, widespread infections, and defective neutrophil mobility.</strong> Lancet 313: 1099-1101, 1979. Note: Originally Volume I.">Hayward et al. (1979)</a>; <a href="#Hibbs1990" class="mim-tip-reference" title="Hibbs, M. L., Wardlaw, A. J., Stacker, S. A., Anderson, D. C., Lee, A., Roberts, T. M., Springer, T. A. <strong>Transfection of cells from patients with leukocyte adhesion deficiency with an integrin beta subunit (CD18) restores lymphocyte function-associated antigen-1 expression and function.</strong> J. Clin. Invest. 85: 674-681, 1990.">Hibbs et al. (1990)</a>; <a href="#Kehrli1992" class="mim-tip-reference" title="Kehrli, M. E., Jr., Ackermann, M. R., Shuster, D. E., van der Maaten, M. J., Schmalstieg, F. C., Anderson, D. C., Hughes, B. J. <strong>Bovine leukocyte adhesion deficiency: beta(2) integrin deficiency in young Holstein cattle.</strong> Am. J. Path. 140: 1489-1492, 1992.">Kehrli
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et al. (1992)</a>; <a href="#Kishimoto1987" class="mim-tip-reference" title="Kishimoto, T. K., O'Connor, K., Lee, A., Roberts, T. M., Springer, T. A. <strong>Cloning of the beta subunit of the leukocyte adhesion proteins: homology to an extracellular matrix receptor defines a novel supergene family.</strong> Cell 48: 681-690, 1987.">Kishimoto et al. (1987)</a>; <a href="#Kishimoto1987" class="mim-tip-reference" title="Kishimoto, T. K., O'Connor, K., Lee, A., Roberts, T. M., Springer, T. A. <strong>Cloning of the beta subunit of the leukocyte adhesion proteins: homology to an extracellular matrix receptor defines a novel supergene family.</strong> Cell 48: 681-690, 1987.">Kishimoto et al. (1987)</a>; <a href="#Kobayashi1984" class="mim-tip-reference" title="Kobayashi, K., Fujita, K., Okino, F., Kajii, T. <strong>An abnormality of neutrophil adhesion: autosomal recessive inheritance associated with missing neutrophil glycoproteins.</strong> Pediatrics 73: 606-610, 1984.">Kobayashi et al. (1984)</a>; <a href="#Krauss1991" class="mim-tip-reference" title="Krauss, J. C., Mayo-Bond, L. A., Rogers, C. E., Weber, K. L., Todd, R. F., III, Wilson, J. M. <strong>An in vivo animal model of gene therapy for leukocyte adhesion deficiency.</strong> J. Clin. Invest. 88: 1412-1417, 1991.">Krauss et al. (1991)</a>; <a href="#Niethammer1976" class="mim-tip-reference" title="Niethammer, D., Dieterle, U., Kleihauer, E., Wildfeuer, A., Haferkamp, O., Hitzig, W. H. <strong>An inherited defect in granulocyte function: impaired chemotaxis, phagocytosis and intracellular killing of microorganisms.</strong> Helv. Paediat. Acta 30: 537-541, 1976.">Niethammer et al.
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(1976)</a>; <a href="#Pierce1986" class="mim-tip-reference" title="Pierce, M. W., Remold-O'Donnell, E., Todd, R. F., III, Arnaout, M. A. <strong>N-terminal sequence of human leukocyte glycoprotein Mo1: conservation across species and homology to platelet IIb/IIIa.</strong> Biochim. Biophys. Acta 874: 368-371, 1986.">Pierce et al. (1986)</a>; <a href="#Rosmarin1995" class="mim-tip-reference" title="Rosmarin, A. G., Caprio, D., Levy, R., Simkevich, C. <strong>CD18 (beta-2 leukocyte integrin) promoter requires PU.1 transcription factor for myeloid activity.</strong> Proc. Nat. Acad. Sci. 92: 801-805, 1995.">Rosmarin et al. (1995)</a>; <a href="#Ross1985" class="mim-tip-reference" title="Ross, G. D., Thompson, R. A., Walport, M. J., Springer, T. A., Watson, J. V., Ward, R. H. R., Lida, J., Newman, S. L., Harrison, R. A., Lachmann, P. J. <strong>Characterization of patients with an increased susceptibility to bacterial infections and a genetic deficiency of leukocyte membrane complement receptor type three (CR3) and the related membrane antigen LFA-1.</strong> Blood 66: 882-890, 1985.">Ross et al.
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(1985)</a>; <a href="#Ross1986" class="mim-tip-reference" title="Ross, G. D. <strong>Clinical and laboratory features of patients with an inherited deficiency of neutrophil membrane complement receptor type 3 (CR3) and the related membrane antigens LFA-1 and p150,95.</strong> J. Clin. Immun. 6: 107-113, 1986.">Ross (1986)</a>; <a href="#Shuster1992" class="mim-tip-reference" title="Shuster, D. E., Kehrli, M. E., Jr., Ackermann, M. R., Gilbert, R. O. <strong>Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle.</strong> Proc. Nat. Acad. Sci. 89: 9225-9229, 1992.">Shuster et al. (1992)</a>; <a href="#Springer1986" class="mim-tip-reference" title="Springer, T. A., Miller, L. J., Anderson, D. C. <strong>p150,95, the third member of the Mac-1, LFA-1 human leukocyte adhesion glycoprotein family.</strong> J. Immun. 136: 240-245, 1986.">Springer et al. (1986)</a>; <a href="#Springer1985" class="mim-tip-reference" title="Springer, T. A., Teplow, D. B., Dreyer, W. J. <strong>Sequence homology of the LFA-1 and Mac-1 leukocyte adhesion glycoproteins and unexpected relation to leukocyte interferon.</strong> Nature 314: 540-542, 1985.">Springer et al. (1985)</a>; <a href="#Springer1984" class="mim-tip-reference" title="Springer, T. A., Thompson, W. S., Miller, L. J., Schmalstieg, F. C., Anderson, D. C. <strong>Inherited deficiency of the Mac-1, LFA-1, p150,95 glycoprotein family and its molecular basis.</strong> J. Exp. Med. 160: 1901-1918, 1984.">Springer et al. (1984)</a>; <a href="#Todd1988" class="mim-tip-reference" title="Todd, R. F., III, Freyer, D. R. <strong>The CD11/CD18 leukocyte glycoprotein deficiency.</strong> Hemat. Oncol. Clin. North Am. 2: 13-31, 1988.">Todd and Freyer
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(1988)</a>; <a href="#van1975" class="mim-tip-reference" title="van der Meer, J. W. M., van Zwet, T. L., van Furth, R. <strong>New familial defect in microbicidal function of polymorphonuclear leucocytes.</strong> Lancet 306: 630-632, 1975. Note: Originally Volume II.">van der Meer et al. (1975)</a>; <a href="#Vedder1988" class="mim-tip-reference" title="Vedder, N. B., Winn, R. K., Rice, C. L., Chi, E. Y., Arfors, K.-E., Harlan, J. M. <strong>A monoclonal antibody to the adherence-promoting leukocyte glycoprotein, CD18, reduces organ injury and improves survival from hemorrhagic shock and resuscitation in rabbits.</strong> J. Clin. Invest. 81: 939-944, 1988.">Vedder et al. (1988)</a>; <a href="#Weening1976" class="mim-tip-reference" title="Weening, R. S., Roos, D., Weemaes, C. M. R., Homan-Muller, J. W. T., van Schaik, M. L. J. <strong>Defective initiation of the metabolic stimulation in phagocytizing granulocytes: a new congenital defect.</strong> J. Lab. Clin. Med. 88: 757-768, 1976.">Weening et
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al. (1976)</a>; <a href="#Wilson1990" class="mim-tip-reference" title="Wilson, J. M., Ping, A. J., Krauss, J. C., Mayo-Bond, L., Rogers, C. E., Anderson, D. C., Todd, R. F., III. <strong>Correction of CD18-deficient lymphocytes by retrovirus-mediated gene transfer.</strong> Science 248: 1413-1416, 1990.">Wilson et al. (1990)</a>; <a href="#Yorifuji1993" class="mim-tip-reference" title="Yorifuji, T., Wilson, R. W., Beaudet, A. L. <strong>Retroviral mediated expression of CD18 in normal and deficient human bone marrow progenitor cells.</strong> Hum. Molec. Genet. 2: 1443-1448, 1993.">Yorifuji et al. (1993)</a>
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Abramson, J. S., Mills, E. L., Sawyer, M. K., Regelmann, W. R., Nelson, J. D., Quie, P. G.
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<strong>Recurrent infections and delayed separation of the umbilical cord in an infant with abnormal phagocytic cell locomotion and oxidative response during particle phagocytosis.</strong>
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J. Pediat. 99: 887-894, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7310581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7310581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7310581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(81)80011-x" target="_blank">Full Text</a>]
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Akao, Y., Utsumi, K. R., Naito, K., Ueda, R., Takahashi, T., Yamada, K.
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<strong>Chromosomal assignments of genes coding for human leukocyte common antigen, T-200, and lymphocyte function-associated antigen 1, LFA-1 beta subunit.</strong>
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Somat. Cell Molec. Genet. 13: 273-278, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2955527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2955527</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2955527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01535209" target="_blank">Full Text</a>]
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Allende, L. M., Hernandez, M., Corell, A., Garcia-Perez, M. A., Varela, P., Moreno, A., Caragol, I., Garcia-Martin, F., Guillen-Perales, J., Olive, T., Espanol, T., Arnaiz-Villena, A.
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<strong>A novel CD18 genomic deletion in a patient with severe leucocyte adhesion deficiency: a possible CD2/lymphocyte function-associated antigen-1 functional association in humans.</strong>
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Immunology 99: 440-450, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10712675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10712675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10712675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10712675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1365-2567.2000.00960.x" target="_blank">Full Text</a>]
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Anderson, D. C., Schmalstieg, F. C., Finegold, M. J., Hughes, B. J., Rothlein, R., Miller, L. J., Kohl, S., Tosi, M. F., Jacobs, R. L., Waldrop, T. C., Goldman, A. S., Shearer, W. T., Springer, T. A.
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<strong>The severe and moderate phenotypes of heritable Mac-1, LFA-1 deficiency: their quantitative definition and relation to leukocyte dysfunction and clinical features.</strong>
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J. Infect. Dis. 152: 668-689, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3900232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3900232</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3900232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/infdis/152.4.668" target="_blank">Full Text</a>]
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Anderson, D. C., Springer, T. A.
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<strong>Leukocyte adhesion deficiency: an inherited defect in the Mac-1, LFA-1, and p150,95 glycoproteins.</strong>
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Annu. Rev. Med. 38: 175-194, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3555290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3555290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3555290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1146/annurev.me.38.020187.001135" target="_blank">Full Text</a>]
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Arnaout, M. A., Dana, N., Gupta, S. K., Tenen, D. G., Fathallah, D. M.
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<strong>Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency.</strong>
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J. Clin. Invest. 85: 977-981, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1968911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1968911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1968911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI114529" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Arnaout1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Arnaout, M. A., Pitt, J., Cohen, H. J., Melamed, J., Rosen, F. S., Colten, H. R.
|
|
<strong>Deficiency of a granulocyte-membrane glycoprotein (gp150) in a boy with recurrent bacterial infections.</strong>
|
|
New Eng. J. Med. 306: 693-699, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6278303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6278303</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6278303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198203253061201" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Arnaout1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Arnaout, M. A., Spits, H., Terhorst, C., Pitt, J., Todd, R. F., III.
|
|
<strong>Deficiency of a leukocyte surface glycoprotein (LFA-1) in two patients with Mo1 deficiency: effects of cell activation on Mo1/LFA-1 surface expression in normal and deficient leukocytes.</strong>
|
|
J. Clin. Invest. 74: 1291-1300, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6237120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6237120</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6237120" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI111539" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Back1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Back, A. L., Kerkering, M., Baker, D., Bauer, T. R., Embree, L. J., Hickstein, D. D.
|
|
<strong>A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity.</strong>
|
|
Biochem. Biophys. Res. Commun. 193: 912-918, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7686755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7686755</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7686755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/bbrc.1993.1712" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Back1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Back, A. L., Kwok, W. W., Hickstein, D. D.
|
|
<strong>Identification of two molecular defects in a child with leukocyte adherence deficiency.</strong>
|
|
J. Biol. Chem. 267: 5482-5487, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1347532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1347532</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1347532" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Bairoch1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bairoch, A.
|
|
<strong>Personal Communication.</strong>
|
|
Geneva, Switzerland 5/13/1994.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Barclay1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Barclay, A. N., Birkeland, M. L., Brown, M. H., Beyers, A. D., Davis, S. J., Somoza, C., Williams, A. F.
|
|
<strong>The Leukocyte Antigen Facts Book.</strong>
|
|
New York: Academic Press (pub.) 1993. Pp. 124-127 and 140-141.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Beatty1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Beatty, P. G., Ochs, H. D., Harlan, J. M., Price, T. H., Rosen, H., Taylor, R. F., Hansen, J. A., Klebanoff, S. J.
|
|
<strong>Absence of monoclonal-antibody-defined protein complex in a boy with abnormal leucocyte function.</strong>
|
|
Lancet 323: 535-537, 1984. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6142255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6142255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6142255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(84)90933-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Bianchi2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bianchi, E., Denti, S., Granata, A., Bossi, G., Geginat, J., Villa, A., Rogge, L., Pardi, R.
|
|
<strong>Integrin LFA-1 interacts with the transcriptional co-activator JAB1 to modulate AP-1 activity.</strong>
|
|
Nature 404: 617-621, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10766246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10766246</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10766246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/35007098" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Bissenden1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bissenden, J. G., Haeney, M. R., Tarlow, M. J., Thompson, R. A.
|
|
<strong>Delayed separation of the umbilical cord, severe widespread infections, and immunodeficiency.</strong>
|
|
Arch. Dis. Child. 56: 397-399, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7259263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7259263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7259263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/adc.56.5.397" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Bowen1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bowen, T. J., Ochs, H. D., Altman, L. C., Price, T. H., Van Epps, D. E., Brautigan, D. L., Rosin, R. E., Perkins, W. D., Babior, B. M., Klebanoff, S. J., Wedgwood, R. J.
|
|
<strong>Severe recurrent bacterial infections associated with defective adherence and chemotaxis in two patients with neutrophils deficient in a cell-associated glycoprotein.</strong>
|
|
J. Pediat. 101: 932-940, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7143170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7143170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7143170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(82)80013-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Bullard1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bullard, D. C., Scharffetter-Kochanek, K., McArthur, M. J., Chosay, J. G., McBride, M. E., Montgomery, C. A., Beaudet, A. L.
|
|
<strong>A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.</strong>
|
|
Proc. Nat. Acad. Sci. 93: 2116-2121, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8700894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8700894</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8700894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.93.5.2116" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Cherry2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cherry, L. K., Li, X., Schwab, P., Lim, B., Klickstein, L. B.
|
|
<strong>RhoH is required to maintain the integrin LFA-1 in a nonadhesive state on lymphocytes.</strong>
|
|
Nature Immun. 5: 961-967, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15300248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15300248</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15300248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ni1103" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Crowley1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Crowley, C. A., Curnutte, J. T., Rosin, R. E., Andre-Schwartz, J., Gallin, J. I., Klempner, M., Snyderman, R., Southwick, F. S., Stossel, T. P., Babior, B. M.
|
|
<strong>An inherited abnormality of neutrophil adhesion: its genetic transmission and its association with a missing protein.</strong>
|
|
New Eng. J. Med. 302: 1163-1168, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7366657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7366657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7366657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198005223022102" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Dana1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dana, N., Clayton, L. K., Tennen, D. G., Pierce, M. W., Lachmann, P. J., Law, S. A., Arnaout, M. A.
|
|
<strong>Leukocytes from four patients with complete or partial Leu-CAM deficiency contain the common beta-subunit precursor and beta-subunit messenger RNA.</strong>
|
|
J. Clin. Invest. 79: 1010-1015, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2880869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2880869</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2880869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI112868" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Dana1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dana, N., Todd, R. F., III, Pitt, J., Springer, T. A., Arnaout, M. A.
|
|
<strong>Deficiency of a surface membrane glycoprotein (Mo1) in man.</strong>
|
|
J. Clin. Invest. 73: 153-159, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6361068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6361068</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6361068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI111186" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Fischer1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fischer, A., Friedrich, W., Levinsky, R., Vossen, J., Griscelli, C., Kubanek, B., Morgan, G., Wagemaker, G., Landais, P.
|
|
<strong>Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985.</strong>
|
|
Lancet 328: 1080-1084, 1986. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2877234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2877234</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2877234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(86)90477-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Fujita1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fujita, K., Kobayashi, K., Kajii, T.
|
|
<strong>Impaired neutrophil adhesion: a new patient in a previously reported family.</strong>
|
|
Acta Paediat. Jpn. 27: 527-534, 1985.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Fujita1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fujita, K., Kobayashi, K., Okino, F.
|
|
<strong>Juvenile rheumatoid arthritis in two siblings with congenital leucocyte adhesion deficiency.</strong>
|
|
Europ. J. Pediat. 148: 118-119, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3234429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3234429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3234429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00445916" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Harvath1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harvath, L., Andersen, B. R.
|
|
<strong>Defective initiation of oxidative metabolism in polymorphonuclear leukocytes.</strong>
|
|
New Eng. J. Med. 300: 1130-1135, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/219339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">219339</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=219339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM197905173002003" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Hayward1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hayward, A. R., Leonard, J., Harvey, B. A. M., Greenwood, M. C., Wood, C. B. S., Soothill, J. F.
|
|
<strong>Delayed separation of the umbilical cord, widespread infections, and defective neutrophil mobility.</strong>
|
|
Lancet 313: 1099-1101, 1979. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/86829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">86829</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=86829" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(79)91786-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Hibbs1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hibbs, M. L., Wardlaw, A. J., Stacker, S. A., Anderson, D. C., Lee, A., Roberts, T. M., Springer, T. A.
|
|
<strong>Transfection of cells from patients with leukocyte adhesion deficiency with an integrin beta subunit (CD18) restores lymphocyte function-associated antigen-1 expression and function.</strong>
|
|
J. Clin. Invest. 85: 674-681, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1968909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1968909</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1968909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI114491" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Hogg1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hogg, N., Stewart, M. P., Scarth, S. L., Newton, R., Shaw, J. M., Law, S. K. A., Klein, N.
|
|
<strong>A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta-2 integrins Mac-1 and LFA-1.</strong>
|
|
J. Clin. Invest. 103: 97-106, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9884339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9884339</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9884339[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9884339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI3312" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Hynes1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hynes, R. O.
|
|
<strong>Integrins: versatility, modulation and signaling in cell adhesion.</strong>
|
|
Cell 69: 11-25, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1555235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1555235</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1555235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0092-8674(92)90115-s" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Kehrli1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kehrli, M. E., Jr., Ackermann, M. R., Shuster, D. E., van der Maaten, M. J., Schmalstieg, F. C., Anderson, D. C., Hughes, B. J.
|
|
<strong>Bovine leukocyte adhesion deficiency: beta(2) integrin deficiency in young Holstein cattle.</strong>
|
|
Am. J. Path. 140: 1489-1492, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1605311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1605311</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1605311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Kim2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kim, M., Carman, C. V., Springer, T. A.
|
|
<strong>Bidirectional transmembrane signaling by cytoplasmic domain separation in integrins.</strong>
|
|
Science 301: 1720-1725, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14500982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14500982</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14500982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.1084174" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Kishimoto1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kishimoto, T. K., Hollander, N., Roberts, T. M., Anderson, D. C., Springer, T. A.
|
|
<strong>Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency.</strong>
|
|
Cell 50: 193-202, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3594570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3594570</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3594570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0092-8674(87)90215-7" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Kishimoto1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kishimoto, T. K., O'Connor, K., Lee, A., Roberts, T. M., Springer, T. A.
|
|
<strong>Cloning of the beta subunit of the leukocyte adhesion proteins: homology to an extracellular matrix receptor defines a novel supergene family.</strong>
|
|
Cell 48: 681-690, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3028646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3028646</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3028646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0092-8674(87)90246-7" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Kobayashi1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kobayashi, K., Fujita, K., Okino, F., Kajii, T.
|
|
<strong>An abnormality of neutrophil adhesion: autosomal recessive inheritance associated with missing neutrophil glycoproteins.</strong>
|
|
Pediatrics 73: 606-610, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6718115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6718115</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6718115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Krauss1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Krauss, J. C., Mayo-Bond, L. A., Rogers, C. E., Weber, K. L., Todd, R. F., III, Wilson, J. M.
|
|
<strong>An in vivo animal model of gene therapy for leukocyte adhesion deficiency.</strong>
|
|
J. Clin. Invest. 88: 1412-1417, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1680882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1680882</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1680882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI115448" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Lammermann2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lammermann, T., Bader, B. L., Monkley, S. J., Worbs, T., Wedlich-Soldner, R., Hirsch, K., Keller, M., Forster, R., Critchley, D. R., Fassler, R., Sixt, M.
|
|
<strong>Rapid leukocyte migration by integrin-independent flowing and squeezing.</strong>
|
|
Nature 453: 51-55, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18451854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18451854</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18451854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature06887" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Lee2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lee, S.-H., Prince, J. E., Rais, M., Kheradmand, F., Shardonofsky, F., Lu, H., Beaudet, A. L., Smith, C. W., Soong, L., Corry, D. B.
|
|
<strong>Differential requirement for CD18 in T-helper effector homing.</strong>
|
|
Nature Med. 9: 1281-1286, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14502280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14502280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14502280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nm932" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Lu2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lu, T. T., Cyster, J. G.
|
|
<strong>Integrin-mediated long-term B cell retention in the splenic marginal zone.</strong>
|
|
Science 297: 409-412, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12130787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12130787</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12130787" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.1071632" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Marlin1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Marlin, S. D., Morton, C. C., Anderson, D. C., Springer, T. A.
|
|
<strong>LFA-1 immunodeficiency disease: definition of the genetic defect and chromosomal mapping of alpha and beta subunits of the lymphocyte function-associated antigen 1 (LFA-1) by complementation in hybrid cells.</strong>
|
|
J. Exp. Med. 164: 855-867, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3528378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3528378</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3528378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1084/jem.164.3.855" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Matsuura1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Matsuura, S., Kishi, F., Tsukahara, M., Nunoi, H., Matsuda, I., Kobayashi, K., Kajii, T.
|
|
<strong>Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form.</strong>
|
|
Biochem. Biophys. Res. Commun. 184: 1460-1467, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1590804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1590804</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1590804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0006-291x(05)80047-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="McDowall2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McDowall, A., Inwald, D., Leitinger, B., Jones, A., Liesner, R., Klein, N., Hogg, N.
|
|
<strong>A novel form of integrin dysfunction involving beta-1, beta-2, and beta-3 integrins.</strong>
|
|
J. Clin. Invest. 111: 51-60, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12511588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12511588</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12511588[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12511588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI14076" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Miura2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Miura, Y., Miura, M., Gronthos, S., Allen, M. R., Cao, C., Uveges, T. E., Bi, Y., Ehirchiou, D., Kortesidis, A., Shi, S., Zhang, L.
|
|
<strong>Defective osteogenesis of the stromal stem cells predisposes CD18-null mice to osteoporosis.</strong>
|
|
Proc. Nat. Acad. Sci. 102: 14022-14027, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16172402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16172402</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16172402[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16172402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.0409397102" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Nelson1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nelson, C., Rabb, H., Arnaout, M. A.
|
|
<strong>Genetic cause of leukocyte adhesion molecule deficiency: abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta-2 integrins.</strong>
|
|
J. Biol. Chem. 267: 3351-3357, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1346613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1346613</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1346613" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Niethammer1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Niethammer, D., Dieterle, U., Kleihauer, E., Wildfeuer, A., Haferkamp, O., Hitzig, W. H.
|
|
<strong>An inherited defect in granulocyte function: impaired chemotaxis, phagocytosis and intracellular killing of microorganisms.</strong>
|
|
Helv. Paediat. Acta 30: 537-541, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1270326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1270326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1270326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Ostermann2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ostermann, G., Weber, K. S. C., Zernecke, A., Schroder, A., Weber, C.
|
|
<strong>JAM-1 is a ligand of the beta-2 integrin LFA-1 involved in transendothelial migration of leukocytes.</strong>
|
|
Nature Immun. 3: 151-158, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11812992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11812992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11812992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ni755" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Petersen1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Petersen, M. B., Slaugenhaupt, S. A., Lewis, J. G., Warren, A. C., Chakravarti, A., Antonarakis, S. E.
|
|
<strong>A genetic linkage map of 27 markers on human chromosome 21.</strong>
|
|
Genomics 9: 407-419, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1674496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1674496</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1674496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(91)90406-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Pierce1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pierce, M. W., Remold-O'Donnell, E., Todd, R. F., III, Arnaout, M. A.
|
|
<strong>N-terminal sequence of human leukocyte glycoprotein Mo1: conservation across species and homology to platelet IIb/IIIa.</strong>
|
|
Biochim. Biophys. Acta 874: 368-371, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3539202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3539202</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3539202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0167-4838(86)90037-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Rivera-Matos1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rivera-Matos, I. R., Rakita, R. M., Mariscalco, M. M., Elder, F. F. B., Dreyer, S. A., Cleary, T. G.
|
|
<strong>Leukocyte adhesion deficiency mimicking Hirschsprung disease.</strong>
|
|
J. Pediat. 127: 755-757, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7472832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7472832</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7472832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(95)70169-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Rosmarin1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rosmarin, A. G., Caprio, D., Levy, R., Simkevich, C.
|
|
<strong>CD18 (beta-2 leukocyte integrin) promoter requires PU.1 transcription factor for myeloid activity.</strong>
|
|
Proc. Nat. Acad. Sci. 92: 801-805, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7846055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7846055</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7846055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.92.3.801" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Ross1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ross, G. D., Thompson, R. A., Walport, M. J., Springer, T. A., Watson, J. V., Ward, R. H. R., Lida, J., Newman, S. L., Harrison, R. A., Lachmann, P. J.
|
|
<strong>Characterization of patients with an increased susceptibility to bacterial infections and a genetic deficiency of leukocyte membrane complement receptor type three (CR3) and the related membrane antigen LFA-1.</strong>
|
|
Blood 66: 882-890, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3899217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3899217</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3899217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Ross1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ross, G. D.
|
|
<strong>Clinical and laboratory features of patients with an inherited deficiency of neutrophil membrane complement receptor type 3 (CR3) and the related membrane antigens LFA-1 and p150,95.</strong>
|
|
J. Clin. Immun. 6: 107-113, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3519653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3519653</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3519653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00918742" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Shuster1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shuster, D. E., Kehrli, M. E., Jr., Ackermann, M. R., Gilbert, R. O.
|
|
<strong>Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 9225-9229, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1384046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1384046</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1384046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.89.19.9225" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Sligh1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sligh, J. E., Jr., Anderson, D. C., Beaudet, A. L.
|
|
<strong>A mutation in the initiation codon of the CD18 gene in a patient with the moderate phenotype of leukocyte adhesion deficiency. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A219, 1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Solomon1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Solomon, E., Palmer, R. W., Hing, S., Law, S. K. A.
|
|
<strong>Regional localization of CD18, the beta-subunit of the cell surface adhesion molecule LFA-1, on human chromosome 21 by in situ hybridization.</strong>
|
|
Ann. Hum. Genet. 52: 123-128, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3073708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3073708</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3073708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1469-1809.1988.tb01087.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Springer1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Springer, T. A., Miller, L. J., Anderson, D. C.
|
|
<strong>p150,95, the third member of the Mac-1, LFA-1 human leukocyte adhesion glycoprotein family.</strong>
|
|
J. Immun. 136: 240-245, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3510003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3510003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3510003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Springer1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Springer, T. A., Teplow, D. B., Dreyer, W. J.
|
|
<strong>Sequence homology of the LFA-1 and Mac-1 leukocyte adhesion glycoproteins and unexpected relation to leukocyte interferon.</strong>
|
|
Nature 314: 540-542, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3887182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3887182</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3887182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/314540a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="57" class="mim-anchor"></a>
|
|
<a id="Springer1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Springer, T. A., Thompson, W. S., Miller, L. J., Schmalstieg, F. C., Anderson, D. C.
|
|
<strong>Inherited deficiency of the Mac-1, LFA-1, p150,95 glycoprotein family and its molecular basis.</strong>
|
|
J. Exp. Med. 160: 1901-1918, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6096477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6096477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6096477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1084/jem.160.6.1901" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="58" class="mim-anchor"></a>
|
|
<a id="Suomalainen1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Suomalainen, H. A., Gahmberg, C. G., Patarroyo, M., Beatty, P. G., Schroder, J.
|
|
<strong>Genetic assignment of GP90, leukocyte adhesion glycoprotein to human chromosome 21.</strong>
|
|
Somat. Cell Molec. Genet. 12: 297-302, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2872730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2872730</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2872730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF01570789" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="59" class="mim-anchor"></a>
|
|
<a id="Suomalainen1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Suomalainen, H. A., Gahmberg, C. G., Patarroyo, M., Schroder, J.
|
|
<strong>GP90 (Leu-CAM antigen) is coded for by genes on chromosome 21. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 755, 1985.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="60" class="mim-anchor"></a>
|
|
<a id="Taylor1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Taylor, G. M., Williams, A., D'Souza, S. W., Fergusson, W. D., Donnai, D., Fennell, J., Harris, R.
|
|
<strong>The expression of CD18 is increased on trisomy 21 (Down syndrome) lymphoblastoid cells.</strong>
|
|
Clin. Exp. Immun. 71: 324-328, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2964960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2964960</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2964960" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="61" class="mim-anchor"></a>
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<a id="Todd1988" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Todd, R. F., III, Freyer, D. R.
|
|
<strong>The CD11/CD18 leukocyte glycoprotein deficiency.</strong>
|
|
Hemat. Oncol. Clin. North Am. 2: 13-31, 1988.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3279017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3279017</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3279017" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="62" class="mim-anchor"></a>
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<a id="van der Meer1975" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
van der Meer, J. W. M., van Zwet, T. L., van Furth, R.
|
|
<strong>New familial defect in microbicidal function of polymorphonuclear leucocytes.</strong>
|
|
Lancet 306: 630-632, 1975. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/52003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">52003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=52003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(75)90114-2" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="63" class="mim-anchor"></a>
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<a id="Vazquez-Torres1999" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Vazquez-Torres, A., Jones-Carson, J., Baumler, A. J., Falkow, S., Valdivia, R., Brown, W., Le, M., Berggren, R., Parks, W. T., Fang, F. C.
|
|
<strong>Extraintestinal dissemination of Salmonella by CD18-expressing phagocytes.</strong>
|
|
Nature 401: 804-808, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10548107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10548107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10548107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/44593" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="64" class="mim-anchor"></a>
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<a id="Vedder1988" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Vedder, N. B., Winn, R. K., Rice, C. L., Chi, E. Y., Arfors, K.-E., Harlan, J. M.
|
|
<strong>A monoclonal antibody to the adherence-promoting leukocyte glycoprotein, CD18, reduces organ injury and improves survival from hemorrhagic shock and resuscitation in rabbits.</strong>
|
|
J. Clin. Invest. 81: 939-944, 1988.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3278007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3278007</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3278007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI113407" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="65" class="mim-anchor"></a>
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<a id="Wardlaw1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wardlaw, A. J., Hibbs, M. L., Stacker, S. A., Springer, T. A.
|
|
<strong>Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.</strong>
|
|
J. Exp. Med. 172: 335-345, 1990.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1694220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1694220</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1694220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1084/jem.172.1.335" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="66" class="mim-anchor"></a>
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<a id="Weening1976" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Weening, R. S., Roos, D., Weemaes, C. M. R., Homan-Muller, J. W. T., van Schaik, M. L. J.
|
|
<strong>Defective initiation of the metabolic stimulation in phagocytizing granulocytes: a new congenital defect.</strong>
|
|
J. Lab. Clin. Med. 88: 757-768, 1976.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/185306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">185306</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=185306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="67" class="mim-anchor"></a>
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<a id="Weitzman1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weitzman, J. B., Wells, C. E., Wright, A. H., Clark, P. A., Law, S. K. A.
|
|
<strong>The gene organisation of the human beta-2 integrin subunit (CD18).</strong>
|
|
FEBS Lett. 294: 97-103, 1991.
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1683838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1683838</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1683838" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0014-5793(91)81351-8" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="68" class="mim-anchor"></a>
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<a id="Wilson1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Wilson, J. M., Ping, A. J., Krauss, J. C., Mayo-Bond, L., Rogers, C. E., Anderson, D. C., Todd, R. F., III.
|
|
<strong>Correction of CD18-deficient lymphocytes by retrovirus-mediated gene transfer.</strong>
|
|
Science 248: 1413-1416, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1972597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1972597</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1972597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1972597" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="69" class="mim-anchor"></a>
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<a id="Wilson1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilson, R. W., Ballantyne, C. M., Smith, C. W., Montgomery, C., Bradley, A., O'Brien, W. E., Beaudet, A. L.
|
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<strong>Gene targeting yields a CD18-mutant mouse for study of inflammation.</strong>
|
|
J. Immun. 151: 1571-1578, 1993.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8101543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8101543</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8101543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="70" class="mim-anchor"></a>
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<a id="Yorifuji1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Yorifuji, T., Wilson, R. W., Beaudet, A. L.
|
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<strong>Retroviral mediated expression of CD18 in normal and deficient human bone marrow progenitor cells.</strong>
|
|
Hum. Molec. Genet. 2: 1443-1448, 1993.
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|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7902162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7902162</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7902162" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/2.9.1443" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Ada Hamosh - updated : 6/12/2008
|
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Patricia A. Hartz - updated : 3/10/2006<br>Paul J. Converse - updated : 10/26/2005<br>Ada Hamosh - updated : 9/26/2003<br>Paul J. Converse - updated : 9/24/2003<br>Denise L. M. Goh - updated : 4/16/2003<br>Ada Hamosh - updated : 9/11/2002<br>Paul J. Converse - updated : 4/29/2002<br>Paul J. Converse - updated : 5/18/2000<br>Ada Hamosh - updated : 4/14/2000<br>Ada Hamosh - updated : 10/20/1999<br>Victor A. McKusick - updated : 3/3/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Victor A. McKusick : 7/28/1994
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 01/02/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/22/2022<br>carol : 02/22/2022<br>carol : 05/17/2021<br>carol : 05/06/2021<br>carol : 05/05/2021<br>carol : 05/04/2021<br>carol : 04/09/2021<br>terry : 04/03/2009<br>terry : 3/31/2009<br>alopez : 6/17/2008<br>alopez : 6/17/2008<br>terry : 6/12/2008<br>wwang : 3/27/2006<br>terry : 3/10/2006<br>mgross : 11/8/2005<br>terry : 10/26/2005<br>alopez : 10/16/2003<br>alopez : 9/29/2003<br>terry : 9/26/2003<br>mgross : 9/24/2003<br>carol : 4/16/2003<br>alopez : 9/11/2002<br>alopez : 9/11/2002<br>tkritzer : 9/11/2002<br>mgross : 4/29/2002<br>mgross : 5/18/2000<br>alopez : 4/18/2000<br>terry : 4/14/2000<br>terry : 12/1/1999<br>alopez : 10/20/1999<br>terry : 10/20/1999<br>alopez : 9/7/1999<br>carol : 3/8/1999<br>terry : 3/3/1999<br>alopez : 3/2/1999<br>psherman : 8/1/1998<br>terry : 6/4/1998<br>dholmes : 5/12/1998<br>mark : 6/12/1997<br>terry : 4/19/1996<br>mark : 4/10/1996<br>terry : 4/4/1996<br>mark : 1/22/1996<br>joanna : 1/16/1996<br>mark : 7/20/1995<br>mark : 4/10/1995<br>pfoster : 3/1/1995<br>pfoster : 10/17/1994<br>pfoster : 10/3/1994
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
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<strong>*</strong> 600065
|
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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|
INTEGRIN, BETA-2; ITGB2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
LEUKOCYTE CELL ADHESION MOLECULE CD18; CD18
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
|
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Other entities represented in this entry:
|
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
|
|
LEUKOCYTE-ASSOCIATED ANTIGENS CD18/11A, CD18/11B, CD18/11C, INCLUDED
|
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: ITGB2</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: 21q22.3
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 21:44,885,953-44,928,815 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
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</th>
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<th>
|
|
Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
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<th>
|
|
Phenotype <br /> mapping key
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</th>
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
21q22.3
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Leukocyte adhesion deficiency
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
116920
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
3
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</span>
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</td>
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|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The leukocyte cell adhesion molecule belongs to the class of cell membrane glycoproteins known as integrins, which are alpha-beta heterodimers. The alpha subunits vary in size from 120 to 180 kD and each is noncovalently associated with a beta subunit (90 to 110 kD). There are 8 known beta subunits and 14 known alpha subunits. Although the alpha and beta subunits could in theory associate to give more than 100 integrin heterodimers, the diversity is restricted and different combinations are associated with different cell types (Hynes, 1992). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Nomenclature</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>The beta-2 integrin chain gene is designated ITGB2 and the leukocyte antigen has been designated CD18. The 3 alpha integrin chains associated individually with the beta-2 chain as a heterodimer have gene designations of ITGAL (153370), ITGAM (120980), and ITGAX (151510), and leukocyte antigen designations of CD11A, CD11B, and CD11C, respectively.</p><p>The 3 integrin molecules associated with leukocyte adhesion deficiency have leukocyte antigen designations of (1) CD18/CD11A: also referred to as LFA-1, Leu CAMa, and integrin beta-2/alpha-L; (2) CD18/CD11B: also referred to as CR3, Leu CAMb, Mac-1, Mo1, OKM-1, and integrin beta-2/alpha-M; (3) CD18/CD11C: also referred to as p150 (p150, 95), Leu CAMc, and integrin beta-2/alpha-X (Barclay et al., 1993).</p>
|
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</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Evolution</strong>
|
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</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
|
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<p>This glycoprotein family is conserved in mouse and human.</p>
|
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</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By quantitative fluorescence flow cytometric analysis, Taylor et al. (1988) showed that the expression of CD18 was increased in lymphoblastoid cells from persons with Down syndrome, consistent with the location of the gene on chromosome 21. </p><p>Bianchi et al. (2000) showed that JAB1 (604850) interacts with the cytoplasmic domain of the beta-2 subunit of the alpha-L/beta-2 integrin LFA-1. They demonstrated that a fraction of JAB1 colocalizes with LFA-1 at the cell membrane and that LFA-1 engagement is followed by an increase of the nuclear pool of JAB1, paralleled by enhanced binding of c-Jun-containing AP1 complexes to their DNA consensus site and increased transactivation of an AP1-dependent promoter. Bianchi et al. (2000) suggested that signaling through the LFA-1 integrin may affect c-Jun-driven transcription by regulating JAB1 nuclear localization. This represented a new pathway for integrin-dependent modulation of gene expression. </p><p>By yeast 2-hybrid analysis and leukocyte adhesion assays, Ostermann et al. (2002) demonstrated that under both static and physiologic flow conditions, JAM1 (605721), through its membrane-proximal domain 2, is a ligand of the LFA-1 integrin that contributes to the LFA-1-dependent transendothelial migration of CD45RO (151460)-positive memory T cells expressing the CXCR4 (162643) chemokine receptor and of neutrophils. These interactions also facilitated LFA-1-mediated arrest of T cells. Activation of endothelium with inflammatory cytokines enhanced memory T-cell transmigration. Ostermann et al. (2002) suggested that a complex interplay of heterophilic binding of LFA-1 to JAM1 and homophilic trans-interactions of JAM1 may provide a molecular 'zipper' for leukocyte transmigration. </p><p>Lu and Cyster (2002) studied the mechanisms that control localization of marginal zone B cells. They demonstrated that marginal zone B cells express elevated levels of the integrins LFA-1 and alpha-4-beta-1 (see 192975 and 135630), and that the marginal zone B cells bind to the ligands ICAM1 (147840) and VCAM1 (192225). These ligands are expressed within the marginal zone in a lymphotoxin-dependent manner. Combined inhibition of LFA-1 and alpha-4-beta-1 causes a rapid and selective release of B cells from the marginal zone. Furthermore, lipopolysaccharide-triggered marginal zone B cell relocalization involves downregulation of integrin-mediated adhesion. Lu and Cyster (2002) concluded that their studies identified key requirements for marginal zone B cell localization and established a role for integrins in peripheral lymphoid tissue compartmentalization. </p><p>In a patient with features of Glanzmann thrombasthenia (see 173470) and leukocyte adhesion deficiency-1 (LAD1; 116920), McDowall et al. (2003) identified a novel form of integrin dysfunction involving ITGB1 (135630), ITGB2, and ITGB3 (173470). ITGB2 and ITGB3 were constitutively clustered. Although all 3 integrins were expressed on the cell surface at normal levels and were capable of function following extracellular stimulation, they could not be activated via the 'inside-out' signaling pathways. </p><p>Kim et al. (2003) investigated cytoplasmic conformational changes in the integrin LFA1 (alpha-L, 153370; beta-2) in living cells by measuring fluorescence resonance energy transfer between cyan fluorescent protein-fused and yellow fluorescent protein-fused alpha-L and beta-2 cytoplasmic domains. In the resting state these domains were close to each other, but underwent significant spatial separation upon either intracellular activation of integrin adhesiveness (inside-out signaling) or ligand binding (outside-in signaling). Thus, bidirectional integrin signaling is accomplished by coupling extracellular conformational changes to an unclasping and separation of the alpha and beta cytoplasmic domains, which Kim et al. (2003) noted as a distinctive mechanism for transmitting information across the plasma membrane. </p><p>Cherry et al. (2004) generated T-cell clones expressing less than half the wildtype amount of RHOH (602037), a leukocyte-specific inhibitory Rho family member. Resting cells expressed constitutively adhesive LFA1 and bound spontaneously to ICAM1, ICAM2 (146630), and ICAM3 (146631). Reconstituting RHOH mRNA levels reverted the adhesion phenotype to that of relatively nonadhesive wildtype cells. Treatment of peripheral blood lymphocytes with RHOH RNA interference altered the nonadhesive phenotype. Cherry et al. (2004) concluded that RHOH is required for maintenance of lymphocyte LFA1 in a nonadhesive state. </p><p>Lammermann et al. (2008) studied the interplay between adhesive, contractile, and protrusive forces during interstitial leukocyte chemotaxis in vivo and in vitro. The authors ablated genes encoding integrin heterodimeric partners ITGA5 (135620), ITGB1 (135630), ITGB2, and ITGB7 (147559) from murine leukocytes and demonstrated that functional integrins do not contribute to migration in 3-dimensional environments. Instead, these cells migrate by the sole force of actin network expansion, which promotes protrusive flowing of the leading edge. Myosin II-dependent contraction is required only on passage through narrow gaps, where a squeezing contraction of the trailing edge propels the rigid nucleus. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Weitzman et al. (1991) determined that the ITGB2 gene spans approximately 40 kb and contains 16 exons. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Suomalainen et al. (1985, 1986) showed that the integrin beta-2 gene is located on chromosome 21. The method used involved somatic cell hybrids between mouse and human lymphocytes, indirect immunofluorescence, and cell sorting. By somatic cell hybridization, Akao et al. (1987) confirmed the chromosomal assignment. By human-mouse T-cell fusion studies, Marlin et al. (1986) also showed that the beta subunit maps to chromosome 21. Using a cDNA probe for in situ hybridization, Solomon et al. (1988) localized the ITGB2 (CD18) gene to 21q22.1-qter. Petersen et al. (1991) assigned CD18 to 21q22.3 and positioned it in that band relative to 15 other genes or DNA markers. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Mutations in the beta-2 subunit of the leukocyte cell adhesion molecule have been found to cause the autosomal recessive disorder of neutrophil function known as leukocyte adhesion deficiency. LAD is characterized by recurrent bacterial infections and a lack of beta-2/alpha-L (see 153370), beta-2/alpha-M (see 120980), and beta-2/alpha-X (see 151510) expression.</p><p>In a patient with LAD deficiency, Arnaout et al. (1990) identified compound heterozygous mutations in the CD18 gene (600065.0001-600065.0002). </p><p>In 2 patients with LAD deficiency, Wardlaw et al. (1990) identified mutations in the CD18 gene (600065.0003; 600065.0004). </p><p>Rivera-Matos et al. (1995) described an infant in whom clinical signs suggesting Hirschsprung disease were the initial manifestation of LAD. Chromosome studies showed a deletion of the distal third of the long arm of one chromosome 21, and flow cytometric studies confirmed the defective expression of CD18. Leukocyte adhesion deficiency was suspected because of leukocytosis, poor wound healing, frequent infections, and biopsy specimens showing a paucity of neutrophils. It seems quite possible that the patient indeed had Hirschsprung disease as well as leukocyte adhesion deficiency. Aganglionic megacolon is a frequent finding in trisomy 21 and preliminary evidence for a genetic modifier of Hirschsprung disease on 21q22 has been presented (600156). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Wilson et al. (1993) found that a hypomorphic mutation in CD18, generated by gene targeting in mice, showed in homozygosity increased circulating neutrophil counts, defects in the response to chemically induced peritonitis, and delays in transplantation rejection. When this mutation was backcrossed onto the PL/J inbred strain by Bullard et al. (1996), virtually all homozygous mice developed a chronic inflammatory skin disease with a mean age of onset of 11 weeks after birth. The disease was characterized by erythema, hair loss, and the development of scales and crusts. The histopathology revealed changes of a type found in human psoriasis (177900) and other hyperproliferative inflammatory skin disorders. No bacterial or fungal organisms were found to be involved in the pathogenesis of the disease, and the dermatitis resolved rapidly after subcutaneous administration of dexamethasone. The findings of Bullard et al. (1996) were notable since no comparable skin disease had been reported in humans or cattle with LAD deficiency type I and since this disorder did not occur in mice when the mutation was studied on a C57BL/6 or 129/Sv background. From backcross experiments the authors suggested that a small number of genes (perhaps as few as one), in addition to CD18, determined susceptibility to the disorder. </p><p>Vazquez-Torres et al. (1999) reported that Salmonella is transported from the gastrointestinal tract to the bloodstream by CD18-expressing phagocytes, and that CD18-deficient mice are resistant to dissemination of Salmonella to the liver and spleen after oral administration. Vazquez-Torres et al. (1999) hypothesized that the CD18-dependent pathway of extraintestinal dissemination may be important for the development of systemic immunity to gastrointestinal pathogens, because oral challenge with Salmonella pathogenicity island-1 (SPI1)-deficient S. typhimurium elicits a specific systemic IgG humoral immune response, despite an inability to stimulate production of specific mucosal IgA. </p><p>Lee et al. (2003) generated mice lacking Cd18. In vitro, activated lymphocytes from these mice had normal Th1 and Th2 cytokine production. The Cd18 -/- mice were more resistant than C57BL/6 mice to challenge with Leishmania major, but they were also resistant to allergic lung inflammation, even though they produced amounts of T cell-dependent allergen-specific antibody comparable to wildtype mice. The authors found that disease production required the homing of Th2 cells (IL4-positive) to the lungs, and this migration was impaired in Cd18 -/- mice and in mice treated with anti-Cd18. Lee et al. (2003) proposed that integrin blockade could be a tactic for selectively excluding Th2 cells under diverse inflammatory conditions. </p><p>Miura et al. (2005) found that Cd18-null mice had defective osteoclastogenesis due to reduced expression of the osteogenic master regulator Runx2 (600211). Radiographic analysis of Cd18-null mice showed reduced bone mineral density and features of osteoporosis. Cd18 was expressed by bone marrow stromal stem cells, and constitutive overexpression of Cd18 in this cell population in normal mice enhanced bone formation. The authors suggested that LAD patients may be predisposed to develop osteoporosis. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
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|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>15 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ITGB2, ARG593CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852609,
|
|
|
|
|
|
gnomAD: rs137852609,
|
|
|
|
|
|
ClinVar: RCV000799618, RCV003407313, RCV004794327
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Arnaout et al. (1990) found that a patient with leukocyte adhesion deficiency (LAD1; 116920) was compound heterozygous for 2 mutations in the CD18 gene: arg593-to-cys and lys196-to-thr. These amino acids lie in regions necessary for normal cell surface expression of CD18 and possibly other integrin-beta subunits. Arnaout et al. (1990) demonstrated that each mutant allele resulted in impaired CD18 expression on the cell surface membrane of transfected COS M6 cells. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ITGB2, LYS196THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852610,
|
|
|
|
|
|
gnomAD: rs137852610,
|
|
|
|
|
|
ClinVar: RCV000010067
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the lys196-to-thr (K196T) mutation in the CD18 gene that was found in compound heterozygous state in a patient with leukocyte adhesion deficiency (LAD1; 116920) by Arnaout et al. (1990), see 600065.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ITGB2, LEU149PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852611,
|
|
|
|
|
|
|
|
ClinVar: RCV000010068
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (patient 14) with moderately severe leukocyte adhesion deficiency (LAD1; 116920), Wardlaw et al. (1990) demonstrated a T-to-C transition in the CD18 gene, resulting in substitution of proline for leucine-149. Cotransfection of the beta subunit cDNA containing this mutation with the wildtype alpha subunit of LFA-1 in a mammalian expression system resulted in no expression of LFA-1. Normal life of the mutant beta subunits and previous demonstration of the lack of alpha/beta complex formation during biosynthesis in the patient's cells suggested a defect in association with the alpha subunit. Loss of functional expression of this beta-subunit mutation suggests that it lies in a site critical for association with the alpha subunit. (In MIM10, this mutation was incorrectly listed as pro149-to-leu. The wildtype residue is leu (Bairoch, 1994).) </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
|
|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ITGB2, GLY169ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852612,
|
|
|
|
|
|
|
|
ClinVar: RCV000010069
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (patient 2) with severe leukocyte adhesion deficiency (LAD1; 116920), Wardlaw et al. (1990) demonstrated a G-to-A transition in the CD18 gene, resulting in a glycine-to-arginine change at amino acid 169 of the beta subunit. As in the case of the leu149-to-pro mutation, there appeared to be interference with association between the mutant beta subunit and the normal alpha subunit. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
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</div>
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|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ITGB2, INITIATION MUTATION
|
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|
|
|
<br />
|
|
|
|
SNP: rs387906411,
|
|
|
|
|
|
|
|
ClinVar: RCV000010070
|
|
|
|
|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Sligh et al. (1989) found an ATG-to-AAG alteration in the initiation codon of the CD18 gene in a patient with moderately severe leukocyte adhesion deficiency (LAD1; 116920). In fact, the patient was a genetic compound; the particular mutation was found in the patient and in the father.</p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ITGB2, ARG586TRP AND 12-BP INS
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<br />
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SNP: rs5030672,
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|
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gnomAD: rs5030672,
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ClinVar: RCV000990357, RCV001212520, RCV001376111, RCV001723557, RCV001729344, RCV003914825
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a patient with partial leukocyte adhesion deficiency (LAD1; 116920) who was previously reported by Arnaout et al. (1984), Nelson et al. (1992) demonstrated 2 mutant alleles in the CD18 gene. The allele from the mother contained 2 mutations: a 12-bp insertion resulting in an in-frame addition of 4 amino acids (pro-ser-ser-gln) between proline-247 and glutamic acid-248, and a 1756C-T nucleotide transition resulting in an arg586-to-trp substitution in the CD18 protein. The 12-bp insertion arose by a single C-to-A transversion in the 3-prime terminus of an intron, generating an aberrant splice acceptor site. COS cells cotransfected with a normal alpha chain gene (CD11B) and the mother's doubly mutant allele showed no surface expression of CD18; when transfected with the arg586-to-trp mutant gene, expression was 22% of normal. The other allele, which was not present in either parent, contained a 1052A-G transition, resulting in an asn351-to-ser (N351S; 600065.0008) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-text-font">
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<strong>.0007 MOVED TO 600065.0006</strong>
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0008 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ITGB2, ASN351SER
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<br />
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SNP: rs137852613,
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ClinVar: RCV000010073
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the 1052A-G transition in the CD18 gene, resulting in substitution of serine for asparagine-351 (N351S), that was found in compound heterozygous state in a patient with leukocyte adhesion deficiency-1 (LAD1; 116920) by Nelson et al. (1992), see 600065.0006. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
ITGB2, PRO178LEU
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<br />
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|
|
SNP: rs137852614,
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|
|
gnomAD: rs137852614,
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|
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|
|
ClinVar: RCV000010074
|
|
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|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a child with severe leukocyte adhesion deficiency (LAD1; 116920), Back et al. (1992) found compound heterozygous mutations in the CD18 gene. One allele had a C-to-T transition at nucleotide 606, resulting in substitution of leucine for proline at amino acid 178. The change occurred in a region that is highly conserved among the integrin beta subunits and where previous defects had been identified in LAD. The other allele had a 220-bp deletion in the cDNA coding for a portion of the extracellular domain, which resulted in a frameshift and a premature stop codon. The deleted region corresponded to exon 13 of the ITGB2 (CD18) gene. The patient had previously been reported by Bowen et al. (1982) and Beatty et al. (1984). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
ITGB2, ASP128ASN
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<br />
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|
|
SNP: rs137852615,
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|
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|
|
gnomAD: rs137852615,
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|
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|
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ClinVar: RCV000010075, RCV004719635
|
|
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</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with leukocyte adhesion deficiency (LAD1; 116920), Matsuura et al. (1992) identified a G-to-A transition at nucleotide 454 of the CD18 gene, which resulted in an asp128-to-asn substitution. The asp128 residue is located in a region which is crucial for the association of beta subunits with alpha subunits and is strictly conserved among the integrin beta subunits. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ITGB2, IVSDS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs201752283,
|
|
|
|
|
|
gnomAD: rs201752283,
|
|
|
|
|
|
ClinVar: RCV000087127
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with leukocyte adhesion deficiency (LAD1; 116920), Matsuura et al. (1992) identified a G-to-A substitution at the first nucleotide of the splice donor site of a 1.2-kb intron in the CD18 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ITGB2, GLY284SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852616,
|
|
|
|
|
|
gnomAD: rs137852616,
|
|
|
|
|
|
ClinVar: RCV000705990, RCV001266603, RCV002254903
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 18-year-old girl reported by Bowen et al. (1982) with moderately severe leukocyte adhesion deficiency-1 (LAD1; 116920), Back et al. (1993) found a single base substitution in the CD18 gene resulting in a glycine284-to-serine substitution. The change occurred in a highly conserved region of the extracellular domain in which several other mutations had been identified. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ITGB2, SER138PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852617,
|
|
|
|
|
|
|
|
ClinVar: RCV000010078
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hogg et al. (1999) described a patient with clinical features compatible with a markedly severe phenotype of leukocyte adhesion deficiency (LAD1; 116920) who was found to express the beta-2 integrins LFA-1 and Mac-1 at 40 to 60% of normal levels. This level of expression should be adequate for normal integrin function, but both the patient's Mac-1 on neutrophils and LFA-1 on T cells failed to bind ligands such as fibrinogen and intercellular adhesion molecule-1 (ICAM1; 147840), or to display a beta-2 integrin activation epitope after adhesion-inducing stimuli. Unexpectedly, divalent cation treatment induced the patient's T cells to bind to ICAM2 (146630) and ICAM3 (146631). Sequencing of the patient's 2 CD18 alleles revealed compound heterozygosity of 2 missense mutations, S138P and G273R (600065.0014). Both mutations were in the beta-2-subunit conserved domain, with S138P a putative divalent cation coordinating residue in the metal ion-dependent adhesion site (MIDAS) motif. After transfection of K562 cells with alpha subunits, the mutated S138P beta-subunit was coexpressed but did not support function, whereas the G273R mutant was not expressed. Thus, the patient exhibited failure of the beta-2 integrins to function despite adequate levels of cell surface expression. </p><p>The 15-year-old patient studied by Hogg et al. (1999) first presented as an infant with severe and recurrent skin infections requiring prolonged treatment with intravenous antibiotics and surgery to remove necrotic tissue. In spite of attentive oral hygiene, the patient suffered from severe periodontitis and gingivitis. Otitis media and chest infections had also been consistent features. Organisms isolated from infected sites included Staphylococcus aureus, Pseudomonas, and Streptococcus species. The neutrophil count was persistently elevated, reaching peaks of more than 10 times normal at times of infection. Phagocytosis by the patient's neutrophils was less than 25% that of a healthy adult control. On the other hand, respiratory burst was either normal or slightly enhanced, and intracellular killing of S. epidermidis was within normal limits. Therefore, although the uptake of the organisms was faulty, intracellular processes by which phagocytes deal with bacteria appeared normal. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ITGB2, GLY273ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852618,
|
|
|
|
|
|
gnomAD: rs137852618,
|
|
|
|
|
|
ClinVar: RCV000355931, RCV000768241
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the gly273-to-arg (G273R) substitution in the ITGB2 gene that was found in compound heterozygous state in a patient with leukocyte adhesion deficiency-1 (LAD1; 116920) by Hogg et al. (1999), see 600065.0013. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 LEUKOCYTE ADHESION DEFICIENCY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ITGB2, IVS4AS, 169-BP DEL, -37
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000010080
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>By studying a herpesvirus saimiri-transformed T cell line from a patient with severe leukocyte adhesion deficiency (LAD1; 116920), Allende et al. (2000) identified a 169-bp genomic deletion in the ITGB2 gene (from -37 of intron 4 to +132 of exon 5) that abolished the intron 4 acceptor splicing site, resulting in the total skipping of exon 5. The genomic deletion led to a 171-bp in-frame mRNA deletion (nucleotides 329 to 500) that resulted in the absence of cell surface and cytoplasmic CD18 expression. Functional analysis showed a severe, selective T-cell activation impairment in the CD2 but not the CD3 pathway. The male patient, whose father was not known and who had no family history of LAD, died at age 12 months after unsuccessful bone marrow transplants at 7 and 10 months of age. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Abramson et al. (1981); Anderson et al. (1985); Anderson and Springer
|
|
(1987); Arnaout et al. (1982); Bissenden et al. (1981); Crowley et
|
|
al. (1980); Dana et al. (1987); Dana et al. (1984); Fischer et al.
|
|
(1986); Fujita et al. (1985); Fujita et al. (1988); Harvath and
|
|
Andersen (1979); Hayward et al. (1979); Hibbs et al. (1990); Kehrli
|
|
et al. (1992); Kishimoto et al. (1987); Kishimoto et al. (1987);
|
|
Kobayashi et al. (1984); Krauss et al. (1991); Niethammer et al.
|
|
(1976); Pierce et al. (1986); Rosmarin et al. (1995); Ross et al.
|
|
(1985); Ross (1986); Shuster et al. (1992); Springer et al. (1986);
|
|
Springer et al. (1985); Springer et al. (1984); Todd and Freyer
|
|
(1988); van der Meer et al. (1975); Vedder et al. (1988); Weening et
|
|
al. (1976); Wilson et al. (1990); Yorifuji et al. (1993)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
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<div>
|
|
<ol>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Abramson, J. S., Mills, E. L., Sawyer, M. K., Regelmann, W. R., Nelson, J. D., Quie, P. G.
|
|
<strong>Recurrent infections and delayed separation of the umbilical cord in an infant with abnormal phagocytic cell locomotion and oxidative response during particle phagocytosis.</strong>
|
|
J. Pediat. 99: 887-894, 1981.
|
|
|
|
|
|
[PubMed: 7310581]
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|
|
[Full Text: https://doi.org/10.1016/s0022-3476(81)80011-x]
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</p>
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|
</li>
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<li>
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|
<p class="mim-text-font">
|
|
Akao, Y., Utsumi, K. R., Naito, K., Ueda, R., Takahashi, T., Yamada, K.
|
|
<strong>Chromosomal assignments of genes coding for human leukocyte common antigen, T-200, and lymphocyte function-associated antigen 1, LFA-1 beta subunit.</strong>
|
|
Somat. Cell Molec. Genet. 13: 273-278, 1987.
|
|
|
|
|
|
[PubMed: 2955527]
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|
[Full Text: https://doi.org/10.1007/BF01535209]
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</p>
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|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Allende, L. M., Hernandez, M., Corell, A., Garcia-Perez, M. A., Varela, P., Moreno, A., Caragol, I., Garcia-Martin, F., Guillen-Perales, J., Olive, T., Espanol, T., Arnaiz-Villena, A.
|
|
<strong>A novel CD18 genomic deletion in a patient with severe leucocyte adhesion deficiency: a possible CD2/lymphocyte function-associated antigen-1 functional association in humans.</strong>
|
|
Immunology 99: 440-450, 2000.
|
|
|
|
|
|
[PubMed: 10712675]
|
|
|
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|
|
[Full Text: https://doi.org/10.1046/j.1365-2567.2000.00960.x]
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Anderson, D. C., Schmalstieg, F. C., Finegold, M. J., Hughes, B. J., Rothlein, R., Miller, L. J., Kohl, S., Tosi, M. F., Jacobs, R. L., Waldrop, T. C., Goldman, A. S., Shearer, W. T., Springer, T. A.
|
|
<strong>The severe and moderate phenotypes of heritable Mac-1, LFA-1 deficiency: their quantitative definition and relation to leukocyte dysfunction and clinical features.</strong>
|
|
J. Infect. Dis. 152: 668-689, 1985.
|
|
|
|
|
|
[PubMed: 3900232]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/infdis/152.4.668]
|
|
|
|
|
|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Anderson, D. C., Springer, T. A.
|
|
<strong>Leukocyte adhesion deficiency: an inherited defect in the Mac-1, LFA-1, and p150,95 glycoproteins.</strong>
|
|
Annu. Rev. Med. 38: 175-194, 1987.
|
|
|
|
|
|
[PubMed: 3555290]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1146/annurev.me.38.020187.001135]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Arnaout, M. A., Dana, N., Gupta, S. K., Tenen, D. G., Fathallah, D. M.
|
|
<strong>Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency.</strong>
|
|
J. Clin. Invest. 85: 977-981, 1990.
|
|
|
|
|
|
[PubMed: 1968911]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI114529]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Arnaout, M. A., Pitt, J., Cohen, H. J., Melamed, J., Rosen, F. S., Colten, H. R.
|
|
<strong>Deficiency of a granulocyte-membrane glycoprotein (gp150) in a boy with recurrent bacterial infections.</strong>
|
|
New Eng. J. Med. 306: 693-699, 1982.
|
|
|
|
|
|
[PubMed: 6278303]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198203253061201]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Arnaout, M. A., Spits, H., Terhorst, C., Pitt, J., Todd, R. F., III.
|
|
<strong>Deficiency of a leukocyte surface glycoprotein (LFA-1) in two patients with Mo1 deficiency: effects of cell activation on Mo1/LFA-1 surface expression in normal and deficient leukocytes.</strong>
|
|
J. Clin. Invest. 74: 1291-1300, 1984.
|
|
|
|
|
|
[PubMed: 6237120]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI111539]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Back, A. L., Kerkering, M., Baker, D., Bauer, T. R., Embree, L. J., Hickstein, D. D.
|
|
<strong>A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity.</strong>
|
|
Biochem. Biophys. Res. Commun. 193: 912-918, 1993.
|
|
|
|
|
|
[PubMed: 7686755]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1993.1712]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Back, A. L., Kwok, W. W., Hickstein, D. D.
|
|
<strong>Identification of two molecular defects in a child with leukocyte adherence deficiency.</strong>
|
|
J. Biol. Chem. 267: 5482-5487, 1992.
|
|
|
|
|
|
[PubMed: 1347532]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bairoch, A.
|
|
<strong>Personal Communication.</strong>
|
|
Geneva, Switzerland 5/13/1994.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Barclay, A. N., Birkeland, M. L., Brown, M. H., Beyers, A. D., Davis, S. J., Somoza, C., Williams, A. F.
|
|
<strong>The Leukocyte Antigen Facts Book.</strong>
|
|
New York: Academic Press (pub.) 1993. Pp. 124-127 and 140-141.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beatty, P. G., Ochs, H. D., Harlan, J. M., Price, T. H., Rosen, H., Taylor, R. F., Hansen, J. A., Klebanoff, S. J.
|
|
<strong>Absence of monoclonal-antibody-defined protein complex in a boy with abnormal leucocyte function.</strong>
|
|
Lancet 323: 535-537, 1984. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 6142255]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(84)90933-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bianchi, E., Denti, S., Granata, A., Bossi, G., Geginat, J., Villa, A., Rogge, L., Pardi, R.
|
|
<strong>Integrin LFA-1 interacts with the transcriptional co-activator JAB1 to modulate AP-1 activity.</strong>
|
|
Nature 404: 617-621, 2000.
|
|
|
|
|
|
[PubMed: 10766246]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/35007098]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bissenden, J. G., Haeney, M. R., Tarlow, M. J., Thompson, R. A.
|
|
<strong>Delayed separation of the umbilical cord, severe widespread infections, and immunodeficiency.</strong>
|
|
Arch. Dis. Child. 56: 397-399, 1981.
|
|
|
|
|
|
[PubMed: 7259263]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/adc.56.5.397]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bowen, T. J., Ochs, H. D., Altman, L. C., Price, T. H., Van Epps, D. E., Brautigan, D. L., Rosin, R. E., Perkins, W. D., Babior, B. M., Klebanoff, S. J., Wedgwood, R. J.
|
|
<strong>Severe recurrent bacterial infections associated with defective adherence and chemotaxis in two patients with neutrophils deficient in a cell-associated glycoprotein.</strong>
|
|
J. Pediat. 101: 932-940, 1982.
|
|
|
|
|
|
[PubMed: 7143170]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(82)80013-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bullard, D. C., Scharffetter-Kochanek, K., McArthur, M. J., Chosay, J. G., McBride, M. E., Montgomery, C. A., Beaudet, A. L.
|
|
<strong>A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.</strong>
|
|
Proc. Nat. Acad. Sci. 93: 2116-2121, 1996.
|
|
|
|
|
|
[PubMed: 8700894]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.93.5.2116]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cherry, L. K., Li, X., Schwab, P., Lim, B., Klickstein, L. B.
|
|
<strong>RhoH is required to maintain the integrin LFA-1 in a nonadhesive state on lymphocytes.</strong>
|
|
Nature Immun. 5: 961-967, 2004.
|
|
|
|
|
|
[PubMed: 15300248]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ni1103]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Crowley, C. A., Curnutte, J. T., Rosin, R. E., Andre-Schwartz, J., Gallin, J. I., Klempner, M., Snyderman, R., Southwick, F. S., Stossel, T. P., Babior, B. M.
|
|
<strong>An inherited abnormality of neutrophil adhesion: its genetic transmission and its association with a missing protein.</strong>
|
|
New Eng. J. Med. 302: 1163-1168, 1980.
|
|
|
|
|
|
[PubMed: 7366657]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198005223022102]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dana, N., Clayton, L. K., Tennen, D. G., Pierce, M. W., Lachmann, P. J., Law, S. A., Arnaout, M. A.
|
|
<strong>Leukocytes from four patients with complete or partial Leu-CAM deficiency contain the common beta-subunit precursor and beta-subunit messenger RNA.</strong>
|
|
J. Clin. Invest. 79: 1010-1015, 1987.
|
|
|
|
|
|
[PubMed: 2880869]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI112868]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dana, N., Todd, R. F., III, Pitt, J., Springer, T. A., Arnaout, M. A.
|
|
<strong>Deficiency of a surface membrane glycoprotein (Mo1) in man.</strong>
|
|
J. Clin. Invest. 73: 153-159, 1984.
|
|
|
|
|
|
[PubMed: 6361068]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI111186]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fischer, A., Friedrich, W., Levinsky, R., Vossen, J., Griscelli, C., Kubanek, B., Morgan, G., Wagemaker, G., Landais, P.
|
|
<strong>Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985.</strong>
|
|
Lancet 328: 1080-1084, 1986. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: 2877234]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(86)90477-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fujita, K., Kobayashi, K., Kajii, T.
|
|
<strong>Impaired neutrophil adhesion: a new patient in a previously reported family.</strong>
|
|
Acta Paediat. Jpn. 27: 527-534, 1985.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fujita, K., Kobayashi, K., Okino, F.
|
|
<strong>Juvenile rheumatoid arthritis in two siblings with congenital leucocyte adhesion deficiency.</strong>
|
|
Europ. J. Pediat. 148: 118-119, 1988.
|
|
|
|
|
|
[PubMed: 3234429]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00445916]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harvath, L., Andersen, B. R.
|
|
<strong>Defective initiation of oxidative metabolism in polymorphonuclear leukocytes.</strong>
|
|
New Eng. J. Med. 300: 1130-1135, 1979.
|
|
|
|
|
|
[PubMed: 219339]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM197905173002003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hayward, A. R., Leonard, J., Harvey, B. A. M., Greenwood, M. C., Wood, C. B. S., Soothill, J. F.
|
|
<strong>Delayed separation of the umbilical cord, widespread infections, and defective neutrophil mobility.</strong>
|
|
Lancet 313: 1099-1101, 1979. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 86829]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(79)91786-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hibbs, M. L., Wardlaw, A. J., Stacker, S. A., Anderson, D. C., Lee, A., Roberts, T. M., Springer, T. A.
|
|
<strong>Transfection of cells from patients with leukocyte adhesion deficiency with an integrin beta subunit (CD18) restores lymphocyte function-associated antigen-1 expression and function.</strong>
|
|
J. Clin. Invest. 85: 674-681, 1990.
|
|
|
|
|
|
[PubMed: 1968909]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI114491]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hogg, N., Stewart, M. P., Scarth, S. L., Newton, R., Shaw, J. M., Law, S. K. A., Klein, N.
|
|
<strong>A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta-2 integrins Mac-1 and LFA-1.</strong>
|
|
J. Clin. Invest. 103: 97-106, 1999.
|
|
|
|
|
|
[PubMed: 9884339]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI3312]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hynes, R. O.
|
|
<strong>Integrins: versatility, modulation and signaling in cell adhesion.</strong>
|
|
Cell 69: 11-25, 1992.
|
|
|
|
|
|
[PubMed: 1555235]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(92)90115-s]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kehrli, M. E., Jr., Ackermann, M. R., Shuster, D. E., van der Maaten, M. J., Schmalstieg, F. C., Anderson, D. C., Hughes, B. J.
|
|
<strong>Bovine leukocyte adhesion deficiency: beta(2) integrin deficiency in young Holstein cattle.</strong>
|
|
Am. J. Path. 140: 1489-1492, 1992.
|
|
|
|
|
|
[PubMed: 1605311]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kim, M., Carman, C. V., Springer, T. A.
|
|
<strong>Bidirectional transmembrane signaling by cytoplasmic domain separation in integrins.</strong>
|
|
Science 301: 1720-1725, 2003.
|
|
|
|
|
|
[PubMed: 14500982]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.1084174]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kishimoto, T. K., Hollander, N., Roberts, T. M., Anderson, D. C., Springer, T. A.
|
|
<strong>Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency.</strong>
|
|
Cell 50: 193-202, 1987.
|
|
|
|
|
|
[PubMed: 3594570]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(87)90215-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kishimoto, T. K., O'Connor, K., Lee, A., Roberts, T. M., Springer, T. A.
|
|
<strong>Cloning of the beta subunit of the leukocyte adhesion proteins: homology to an extracellular matrix receptor defines a novel supergene family.</strong>
|
|
Cell 48: 681-690, 1987.
|
|
|
|
|
|
[PubMed: 3028646]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(87)90246-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kobayashi, K., Fujita, K., Okino, F., Kajii, T.
|
|
<strong>An abnormality of neutrophil adhesion: autosomal recessive inheritance associated with missing neutrophil glycoproteins.</strong>
|
|
Pediatrics 73: 606-610, 1984.
|
|
|
|
|
|
[PubMed: 6718115]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Krauss, J. C., Mayo-Bond, L. A., Rogers, C. E., Weber, K. L., Todd, R. F., III, Wilson, J. M.
|
|
<strong>An in vivo animal model of gene therapy for leukocyte adhesion deficiency.</strong>
|
|
J. Clin. Invest. 88: 1412-1417, 1991.
|
|
|
|
|
|
[PubMed: 1680882]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI115448]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lammermann, T., Bader, B. L., Monkley, S. J., Worbs, T., Wedlich-Soldner, R., Hirsch, K., Keller, M., Forster, R., Critchley, D. R., Fassler, R., Sixt, M.
|
|
<strong>Rapid leukocyte migration by integrin-independent flowing and squeezing.</strong>
|
|
Nature 453: 51-55, 2008.
|
|
|
|
|
|
[PubMed: 18451854]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature06887]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, S.-H., Prince, J. E., Rais, M., Kheradmand, F., Shardonofsky, F., Lu, H., Beaudet, A. L., Smith, C. W., Soong, L., Corry, D. B.
|
|
<strong>Differential requirement for CD18 in T-helper effector homing.</strong>
|
|
Nature Med. 9: 1281-1286, 2003.
|
|
|
|
|
|
[PubMed: 14502280]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nm932]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lu, T. T., Cyster, J. G.
|
|
<strong>Integrin-mediated long-term B cell retention in the splenic marginal zone.</strong>
|
|
Science 297: 409-412, 2002.
|
|
|
|
|
|
[PubMed: 12130787]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.1071632]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Marlin, S. D., Morton, C. C., Anderson, D. C., Springer, T. A.
|
|
<strong>LFA-1 immunodeficiency disease: definition of the genetic defect and chromosomal mapping of alpha and beta subunits of the lymphocyte function-associated antigen 1 (LFA-1) by complementation in hybrid cells.</strong>
|
|
J. Exp. Med. 164: 855-867, 1986.
|
|
|
|
|
|
[PubMed: 3528378]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1084/jem.164.3.855]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Matsuura, S., Kishi, F., Tsukahara, M., Nunoi, H., Matsuda, I., Kobayashi, K., Kajii, T.
|
|
<strong>Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form.</strong>
|
|
Biochem. Biophys. Res. Commun. 184: 1460-1467, 1992.
|
|
|
|
|
|
[PubMed: 1590804]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0006-291x(05)80047-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McDowall, A., Inwald, D., Leitinger, B., Jones, A., Liesner, R., Klein, N., Hogg, N.
|
|
<strong>A novel form of integrin dysfunction involving beta-1, beta-2, and beta-3 integrins.</strong>
|
|
J. Clin. Invest. 111: 51-60, 2003.
|
|
|
|
|
|
[PubMed: 12511588]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI14076]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Miura, Y., Miura, M., Gronthos, S., Allen, M. R., Cao, C., Uveges, T. E., Bi, Y., Ehirchiou, D., Kortesidis, A., Shi, S., Zhang, L.
|
|
<strong>Defective osteogenesis of the stromal stem cells predisposes CD18-null mice to osteoporosis.</strong>
|
|
Proc. Nat. Acad. Sci. 102: 14022-14027, 2005.
|
|
|
|
|
|
[PubMed: 16172402]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0409397102]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nelson, C., Rabb, H., Arnaout, M. A.
|
|
<strong>Genetic cause of leukocyte adhesion molecule deficiency: abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta-2 integrins.</strong>
|
|
J. Biol. Chem. 267: 3351-3357, 1992.
|
|
|
|
|
|
[PubMed: 1346613]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Niethammer, D., Dieterle, U., Kleihauer, E., Wildfeuer, A., Haferkamp, O., Hitzig, W. H.
|
|
<strong>An inherited defect in granulocyte function: impaired chemotaxis, phagocytosis and intracellular killing of microorganisms.</strong>
|
|
Helv. Paediat. Acta 30: 537-541, 1976.
|
|
|
|
|
|
[PubMed: 1270326]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ostermann, G., Weber, K. S. C., Zernecke, A., Schroder, A., Weber, C.
|
|
<strong>JAM-1 is a ligand of the beta-2 integrin LFA-1 involved in transendothelial migration of leukocytes.</strong>
|
|
Nature Immun. 3: 151-158, 2002.
|
|
|
|
|
|
[PubMed: 11812992]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ni755]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Petersen, M. B., Slaugenhaupt, S. A., Lewis, J. G., Warren, A. C., Chakravarti, A., Antonarakis, S. E.
|
|
<strong>A genetic linkage map of 27 markers on human chromosome 21.</strong>
|
|
Genomics 9: 407-419, 1991.
|
|
|
|
|
|
[PubMed: 1674496]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(91)90406-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pierce, M. W., Remold-O'Donnell, E., Todd, R. F., III, Arnaout, M. A.
|
|
<strong>N-terminal sequence of human leukocyte glycoprotein Mo1: conservation across species and homology to platelet IIb/IIIa.</strong>
|
|
Biochim. Biophys. Acta 874: 368-371, 1986.
|
|
|
|
|
|
[PubMed: 3539202]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0167-4838(86)90037-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rivera-Matos, I. R., Rakita, R. M., Mariscalco, M. M., Elder, F. F. B., Dreyer, S. A., Cleary, T. G.
|
|
<strong>Leukocyte adhesion deficiency mimicking Hirschsprung disease.</strong>
|
|
J. Pediat. 127: 755-757, 1995.
|
|
|
|
|
|
[PubMed: 7472832]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(95)70169-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rosmarin, A. G., Caprio, D., Levy, R., Simkevich, C.
|
|
<strong>CD18 (beta-2 leukocyte integrin) promoter requires PU.1 transcription factor for myeloid activity.</strong>
|
|
Proc. Nat. Acad. Sci. 92: 801-805, 1995.
|
|
|
|
|
|
[PubMed: 7846055]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.92.3.801]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ross, G. D., Thompson, R. A., Walport, M. J., Springer, T. A., Watson, J. V., Ward, R. H. R., Lida, J., Newman, S. L., Harrison, R. A., Lachmann, P. J.
|
|
<strong>Characterization of patients with an increased susceptibility to bacterial infections and a genetic deficiency of leukocyte membrane complement receptor type three (CR3) and the related membrane antigen LFA-1.</strong>
|
|
Blood 66: 882-890, 1985.
|
|
|
|
|
|
[PubMed: 3899217]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ross, G. D.
|
|
<strong>Clinical and laboratory features of patients with an inherited deficiency of neutrophil membrane complement receptor type 3 (CR3) and the related membrane antigens LFA-1 and p150,95.</strong>
|
|
J. Clin. Immun. 6: 107-113, 1986.
|
|
|
|
|
|
[PubMed: 3519653]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00918742]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shuster, D. E., Kehrli, M. E., Jr., Ackermann, M. R., Gilbert, R. O.
|
|
<strong>Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 9225-9229, 1992.
|
|
|
|
|
|
[PubMed: 1384046]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.89.19.9225]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sligh, J. E., Jr., Anderson, D. C., Beaudet, A. L.
|
|
<strong>A mutation in the initiation codon of the CD18 gene in a patient with the moderate phenotype of leukocyte adhesion deficiency. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A219, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Solomon, E., Palmer, R. W., Hing, S., Law, S. K. A.
|
|
<strong>Regional localization of CD18, the beta-subunit of the cell surface adhesion molecule LFA-1, on human chromosome 21 by in situ hybridization.</strong>
|
|
Ann. Hum. Genet. 52: 123-128, 1988.
|
|
|
|
|
|
[PubMed: 3073708]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1469-1809.1988.tb01087.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Springer, T. A., Miller, L. J., Anderson, D. C.
|
|
<strong>p150,95, the third member of the Mac-1, LFA-1 human leukocyte adhesion glycoprotein family.</strong>
|
|
J. Immun. 136: 240-245, 1986.
|
|
|
|
|
|
[PubMed: 3510003]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Springer, T. A., Teplow, D. B., Dreyer, W. J.
|
|
<strong>Sequence homology of the LFA-1 and Mac-1 leukocyte adhesion glycoproteins and unexpected relation to leukocyte interferon.</strong>
|
|
Nature 314: 540-542, 1985.
|
|
|
|
|
|
[PubMed: 3887182]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/314540a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Springer, T. A., Thompson, W. S., Miller, L. J., Schmalstieg, F. C., Anderson, D. C.
|
|
<strong>Inherited deficiency of the Mac-1, LFA-1, p150,95 glycoprotein family and its molecular basis.</strong>
|
|
J. Exp. Med. 160: 1901-1918, 1984.
|
|
|
|
|
|
[PubMed: 6096477]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1084/jem.160.6.1901]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Suomalainen, H. A., Gahmberg, C. G., Patarroyo, M., Beatty, P. G., Schroder, J.
|
|
<strong>Genetic assignment of GP90, leukocyte adhesion glycoprotein to human chromosome 21.</strong>
|
|
Somat. Cell Molec. Genet. 12: 297-302, 1986.
|
|
|
|
|
|
[PubMed: 2872730]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01570789]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Suomalainen, H. A., Gahmberg, C. G., Patarroyo, M., Schroder, J.
|
|
<strong>GP90 (Leu-CAM antigen) is coded for by genes on chromosome 21. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 755, 1985.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Taylor, G. M., Williams, A., D'Souza, S. W., Fergusson, W. D., Donnai, D., Fennell, J., Harris, R.
|
|
<strong>The expression of CD18 is increased on trisomy 21 (Down syndrome) lymphoblastoid cells.</strong>
|
|
Clin. Exp. Immun. 71: 324-328, 1988.
|
|
|
|
|
|
[PubMed: 2964960]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Todd, R. F., III, Freyer, D. R.
|
|
<strong>The CD11/CD18 leukocyte glycoprotein deficiency.</strong>
|
|
Hemat. Oncol. Clin. North Am. 2: 13-31, 1988.
|
|
|
|
|
|
[PubMed: 3279017]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
van der Meer, J. W. M., van Zwet, T. L., van Furth, R.
|
|
<strong>New familial defect in microbicidal function of polymorphonuclear leucocytes.</strong>
|
|
Lancet 306: 630-632, 1975. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: 52003]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(75)90114-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vazquez-Torres, A., Jones-Carson, J., Baumler, A. J., Falkow, S., Valdivia, R., Brown, W., Le, M., Berggren, R., Parks, W. T., Fang, F. C.
|
|
<strong>Extraintestinal dissemination of Salmonella by CD18-expressing phagocytes.</strong>
|
|
Nature 401: 804-808, 1999.
|
|
|
|
|
|
[PubMed: 10548107]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/44593]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vedder, N. B., Winn, R. K., Rice, C. L., Chi, E. Y., Arfors, K.-E., Harlan, J. M.
|
|
<strong>A monoclonal antibody to the adherence-promoting leukocyte glycoprotein, CD18, reduces organ injury and improves survival from hemorrhagic shock and resuscitation in rabbits.</strong>
|
|
J. Clin. Invest. 81: 939-944, 1988.
|
|
|
|
|
|
[PubMed: 3278007]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI113407]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wardlaw, A. J., Hibbs, M. L., Stacker, S. A., Springer, T. A.
|
|
<strong>Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.</strong>
|
|
J. Exp. Med. 172: 335-345, 1990.
|
|
|
|
|
|
[PubMed: 1694220]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1084/jem.172.1.335]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weening, R. S., Roos, D., Weemaes, C. M. R., Homan-Muller, J. W. T., van Schaik, M. L. J.
|
|
<strong>Defective initiation of the metabolic stimulation in phagocytizing granulocytes: a new congenital defect.</strong>
|
|
J. Lab. Clin. Med. 88: 757-768, 1976.
|
|
|
|
|
|
[PubMed: 185306]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weitzman, J. B., Wells, C. E., Wright, A. H., Clark, P. A., Law, S. K. A.
|
|
<strong>The gene organisation of the human beta-2 integrin subunit (CD18).</strong>
|
|
FEBS Lett. 294: 97-103, 1991.
|
|
|
|
|
|
[PubMed: 1683838]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0014-5793(91)81351-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wilson, J. M., Ping, A. J., Krauss, J. C., Mayo-Bond, L., Rogers, C. E., Anderson, D. C., Todd, R. F., III.
|
|
<strong>Correction of CD18-deficient lymphocytes by retrovirus-mediated gene transfer.</strong>
|
|
Science 248: 1413-1416, 1990.
|
|
|
|
|
|
[PubMed: 1972597]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.1972597]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wilson, R. W., Ballantyne, C. M., Smith, C. W., Montgomery, C., Bradley, A., O'Brien, W. E., Beaudet, A. L.
|
|
<strong>Gene targeting yields a CD18-mutant mouse for study of inflammation.</strong>
|
|
J. Immun. 151: 1571-1578, 1993.
|
|
|
|
|
|
[PubMed: 8101543]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yorifuji, T., Wilson, R. W., Beaudet, A. L.
|
|
<strong>Retroviral mediated expression of CD18 in normal and deficient human bone marrow progenitor cells.</strong>
|
|
Hum. Molec. Genet. 2: 1443-1448, 1993.
|
|
|
|
|
|
[PubMed: 7902162]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/2.9.1443]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
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|
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|
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Contributors:
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Ada Hamosh - updated : 6/12/2008<br>Patricia A. Hartz - updated : 3/10/2006<br>Paul J. Converse - updated : 10/26/2005<br>Ada Hamosh - updated : 9/26/2003<br>Paul J. Converse - updated : 9/24/2003<br>Denise L. M. Goh - updated : 4/16/2003<br>Ada Hamosh - updated : 9/11/2002<br>Paul J. Converse - updated : 4/29/2002<br>Paul J. Converse - updated : 5/18/2000<br>Ada Hamosh - updated : 4/14/2000<br>Ada Hamosh - updated : 10/20/1999<br>Victor A. McKusick - updated : 3/3/1999
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Victor A. McKusick : 7/28/1994
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alopez : 01/02/2024<br>carol : 08/22/2022<br>carol : 02/22/2022<br>carol : 05/17/2021<br>carol : 05/06/2021<br>carol : 05/05/2021<br>carol : 05/04/2021<br>carol : 04/09/2021<br>terry : 04/03/2009<br>terry : 3/31/2009<br>alopez : 6/17/2008<br>alopez : 6/17/2008<br>terry : 6/12/2008<br>wwang : 3/27/2006<br>terry : 3/10/2006<br>mgross : 11/8/2005<br>terry : 10/26/2005<br>alopez : 10/16/2003<br>alopez : 9/29/2003<br>terry : 9/26/2003<br>mgross : 9/24/2003<br>carol : 4/16/2003<br>alopez : 9/11/2002<br>alopez : 9/11/2002<br>tkritzer : 9/11/2002<br>mgross : 4/29/2002<br>mgross : 5/18/2000<br>alopez : 4/18/2000<br>terry : 4/14/2000<br>terry : 12/1/1999<br>alopez : 10/20/1999<br>terry : 10/20/1999<br>alopez : 9/7/1999<br>carol : 3/8/1999<br>terry : 3/3/1999<br>alopez : 3/2/1999<br>psherman : 8/1/1998<br>terry : 6/4/1998<br>dholmes : 5/12/1998<br>mark : 6/12/1997<br>terry : 4/19/1996<br>mark : 4/10/1996<br>terry : 4/4/1996<br>mark : 1/22/1996<br>joanna : 1/16/1996<br>mark : 7/20/1995<br>mark : 4/10/1995<br>pfoster : 3/1/1995<br>pfoster : 10/17/1994<br>pfoster : 10/3/1994
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