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Entry
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- #116920 - LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD1
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- OMIM
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<p>
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<span class="h4">#116920</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/116920"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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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 style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=LEUKOCYTE ADHESION DEFICIENCY, TYPE I" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3559&Typ=Pat" title="Leukocyte adhesion deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Leukocyte adhesion deficie… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14415&Typ=Pat" title="Leukocyte adhesion deficiency type I" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Leukocyte adhesion deficie… </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/4197" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/leukocyte-adhesion-deficiency-type-1" 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=116920[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><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2968" title="Leukocyte adhesion deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Leukocyte adhesion deficie…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99842" title="Leukocyte adhesion deficiency type I" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Leukocyte adhesion deficie…</a></div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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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 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/disease/DOID:0110910" 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="http://www.informatics.jax.org/disease/116920" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA000595/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0110910" 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': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div id="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:116920" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 234582006<br />
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<strong>ORPHA:</strong> 2968, 99842<br />
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<strong>DO:</strong> 0110910<br />
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">ICD+</a>
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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="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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116920
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</span>
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LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD1
|
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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 />
|
|
</div>
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
LEUKOCYTE ADHESION DEFICIENCY; LAD<br />
|
|
LYMPHOCYTE FUNCTION-ASSOCIATED ANTIGEN 1 IMMUNODEFICIENCY<br />
|
|
LFA1 IMMUNODEFICIENCY
|
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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>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
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<th>
|
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Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
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|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/21/166?start=-3&limit=10&highlight=166">
|
|
21q22.3
|
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</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Leukocyte adhesion deficiency
|
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|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116920"> 116920 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ITGB2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600065"> 600065 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/116920" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/116920" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/116920" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<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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|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gingivitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66383009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66383009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K05.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K05.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017574&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017574</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000230" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000230</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000230" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000230</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Periodontitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41565005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41565005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K05.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K05.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0031099&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031099</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000704</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000704</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Leukocytosis with predominant granulocytosis (20,000-100,000 /mm3) common <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861770&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861770</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> IMMUNOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Perirectal abscesses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91669008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91669008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K61.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K61.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0267566&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0267566</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005224" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005224</a>]</span><br /> -
|
|
Recurrent staphylococcal and gram-negative infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861767&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861767</a>]</span><br /> -
|
|
Poor adhesion related functions, such as adhesion to endothelial cells, chemotaxis, and antibody-dependent cellular cytotoxicity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861768&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861768</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> PRENATAL MANIFESTATIONS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Placenta & Umbilical Cord </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Delayed umbilical cord separation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/114961000119106" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">114961000119106</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P96.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P96.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/779.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">779.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1260438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1260438</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032434" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032434</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032434" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032434</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Low levels of CD11/CD18 (LFA-1 or leukocyte function antigen-1) glycoprotein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861769&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861769</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Corrected by bone marrow transplantation<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutations in the beta-2 integrin gene (ITGB2, <a href="/entry/600065#0001">600065.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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|
|
</div>
|
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|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
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<p>A number sign (#) is used with this entry because of evidence that leukocyte adhesion deficiency-1 (LAD1) is caused by homozygous or compound heterozygous mutation in the CD18 gene (ITGB2; <a href="/entry/600065">600065</a>) on chromosome 21q22.</p>
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<p>Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.</p><p><strong><em>Genetic Heterogeneity of Leukocyte Adhesion Deficiency</em></strong></p><p>
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Also see LAD2 (<a href="/entry/266265">266265</a>), caused by mutation in the SLC35C1 gene (<a href="/entry/605881">605881</a>), and LAD3 (<a href="/entry/612840">612840</a>), caused by mutation in the FERMT3 gene (<a href="/entry/607901">607901</a>).</p>
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<p>ITGB2 encodes the beta subunit common to 3 cell adhesion molecules: CD11A (ITGAL; <a href="/entry/153370">153370</a>), CD11B (ITGAM; <a href="/entry/120980">120980</a>), and CD11C (ITGAX; <a href="/entry/151510">151510</a>).</p><p>The 3 alpha-integrin chains that each heterodimerize with the beta-2 chain (ITGAL, ITGAM, and ITGAX) 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="#11" 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>Beginning in the 1970s, patients were recognized who had recurrent bacterial infections, defective neutrophil mobility, and delayed separation of the umbilical cord (e.g., <a href="#24" 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.[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://doi.org/10.1016/s0140-6736(79)91786-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="86829">Hayward et al., 1979</a>). Before the elucidation by Springer et al. (<a href="#46" 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.[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://doi.org/10.1084/jem.160.6.1901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6096477">1984</a>, <a href="#44" 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.[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>]" pmid="3510003">1986</a>) and <a href="#11" 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>, extraordinary confusion surrounded the group of patients with leukocyte dysfunction and deficiency of cell surface antigens (see, for example, <a href="#6" 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.[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://doi.org/10.1056/NEJM198203253061201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6278303">Arnaout et al., 1982</a>; <a href="#15" 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>; <a href="#18" 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.[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://doi.org/10.1172/JCI111186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6361068">Dana et al., 1984</a>). In the seventh edition of these catalogs (1986), one entry related to the ITGB2 locus (which is mutant in these patients), but 3 others described neutrophil dysfunction syndromes now known to be leukocyte adhesion deficiency. Confusion was created by different investigators looking at the different alpha subunits which share a common beta subunit. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7143170+6361068+3510003+6096477+86829+6278303" 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="#52" class="mim-tip-reference" title="van der Meer, J. W. M., van Zwet, T. L., van Furth, R., Weemaes, C. M. R. <strong>New familial defect in microbicidal function of polymorphonuclear leucocytes.</strong> Lancet 306: 630-632, 1975. Note: Originally Volume II.[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://doi.org/10.1016/s0140-6736(75)90114-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="52003">Van der Meer et al. (1975)</a> described a 'new' defect in the intracellular killing of ingested microorganisms. A sister and probably 2 brothers were affected. During infections, the white blood count was as high as 55,000 per cu mm, mostly neutrophils, with a slight shift to the left. Other patients with recurring bacterial infections were reported who had defects in initiation of the neutrophil respiratory burst to particulate but not soluble stimuli (e.g., <a href="#55" 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.[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>]" pmid="185306">Weening et al., 1976</a>; <a href="#23" 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.[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://doi.org/10.1056/NEJM197905173002003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="219339">Harvath and Andersen, 1979</a>), defects in neutrophil chemotaxis and phagocytosis (e.g., <a href="#35" 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.[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>]" pmid="1270326">Niethammer et al., 1976</a>), or both (<a href="#23" 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.[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://doi.org/10.1056/NEJM197905173002003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="219339">Harvath and Andersen, 1979</a>). <a href="#16" 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.[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://doi.org/10.1056/NEJM198005223022102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7366657">Crowley et al. (1980)</a> were the first to propose that the defects in neutrophil chemotaxis and phagocytosis were secondary to an abnormality in cell adhesion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1270326+7366657+52003+219339+185306" 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>Using specific monoclonal antibodies, <a href="#18" 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.[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://doi.org/10.1172/JCI111186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6361068">Dana et al. (1984)</a>, <a href="#12" 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>, and others demonstrated deficiency of both the alpha and the beta subunits of Mac-1 (also designated Mo1, and as beta-2/alpha M in integrin terminology) in the neutrophils of patients of this type. <a href="#7" 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> and others demonstrated that the LFA-1 alpha-beta complex (beta-2/alpha-X) is also deficient on patients' neutrophils and lymphocytes. Springer et al. (<a href="#46" 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.[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://doi.org/10.1084/jem.160.6.1901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6096477">1984</a>, <a href="#44" 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.[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>]" pmid="3510003">1986</a>) found that a third type of alpha-beta complex is also deficient on patients' neutrophils and lymphocytes. Springer et al. (<a href="#46" 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.[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://doi.org/10.1084/jem.160.6.1901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6096477">1984</a>, <a href="#44" 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.[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>]" pmid="3510003">1986</a>) proposed that the primary defect in these patients resides in the beta subunit (which is shared by all 3 deficient proteins) and that the beta subunit is necessary for cell surface expression on the alpha subunit. Such neutrophils have a reduced phagocytic and respiratory burst response to bacteria and yeast as well as a reduced ability to adhere to various substances and migrate into sites of infection. Most of the clinical features are probably the result of neutrophil and monocyte deficiency of CR3 (beta-2/alpha-M). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6237120+6361068+3510003+6096477+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><p>There have been reports of about 30 patients with recurrent bacterial infections due to deficiency of this family of cell membrane glycoproteins. <a href="#39" 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.[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://doi.org/10.1007/BF00918742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3519653">Ross (1986)</a> tabulated the findings in reported cases. Often the first manifestation is infection of the umbilical cord stump, occasionally progressing to omphalitis (<a href="#1" class="mim-tip-reference" title="Abramson, J. S., Mills, E. L., Sawyer, M. K., Regelman, 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: <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://doi.org/10.1016/s0022-3476(81)80011-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7310581">Abramson et al., 1981</a>; <a href="#13" 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.[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://doi.org/10.1136/adc.56.5.397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7259263">Bissenden et al., 1981</a>). Gingivitis (periodontitis) may be noted with eruption of the primary teeth. Systemic bacterial infections such as pneumonia, peritonitis, and deep abscesses are more frequent during infancy and with complete deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7259263+3519653+7310581" 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>See review by <a href="#50" 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.[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>]" pmid="3279017">Todd and Freyer (1988)</a>, who found reports of 41 patients in whom the clinical picture fitted that of CD18/CD11 (beta-2/alpha) glycoprotein deficiency. At least 4 patients suspected or documented to have a moderately severe variant (10% expression of CD18/CD11 glycoprotein) have survived to adulthood (<a href="#3" 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.[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://doi.org/10.1093/infdis/152.4.668" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3900232">Anderson et al., 1985</a>; <a href="#52" class="mim-tip-reference" title="van der Meer, J. W. M., van Zwet, T. L., van Furth, R., Weemaes, C. M. R. <strong>New familial defect in microbicidal function of polymorphonuclear leucocytes.</strong> Lancet 306: 630-632, 1975. Note: Originally Volume II.[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://doi.org/10.1016/s0140-6736(75)90114-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="52003">van der Meer et al., 1975</a>; <a href="#55" 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.[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>]" pmid="185306">Weening et al., 1976</a>) and 3 homozygous persons are known to have parented affected or presumably heterozygous offspring. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=185306+3900232+3279017+52003" 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="#30" 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.[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>]" pmid="6718115">Kobayashi et al. (1984)</a> described a 3-month-old Japanese female infant with persistent navel infection due to Pseudomonas aeruginosa since birth and recurrent bacterial skin infections. They found a severe abnormality of neutrophil adhesion on a surface, leading to a lack of chemotaxis and mild impairment of phagocytosis. Neutrophil bactericidal activity and nitroblue tetrazolium reduction were unimpaired. By sodium dodecyl sulfate polyacrylamide gel electrophoresis of neutrophil membrane proteins, 2 glycoproteins were shown to be lacking. In both parents, both glycoproteins were reduced. <a href="#21" 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."None>Fujita et al. (1985)</a> reported the subsequent birth of a male sib with the same defect. <a href="#22" 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.[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://doi.org/10.1007/BF00445916" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3234429">Fujita et al. (1988)</a> described juvenile rheumatoid arthritis of systemic onset in these sibs, then aged 5 and 3 years, respectively, who had a severe form of congenital leukocyte adhesion deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3234429+6718115" 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="#19" class="mim-tip-reference" title="Etzioni, A., Harlan, J. M. <strong>Cell adhesion and leukocyte adhesion defects.In: Ochs, H. D.; Smith, C. I. E.; Puck, J. M. (eds.) : Primary Immunodeficiency Diseases: A Molecular and Genetic Approach.</strong> New York: Oxford University Press 1999. Pp. 375-388."None>Etzioni and Harlan (1999)</a> provided a comprehensive review of both type I (LAD1) and type II LAD (LAD2; <a href="/entry/266265">266265</a>). While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.</p>
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<p><a href="#28" class="mim-tip-reference" title="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://doi.org/10.1016/0092-8674(87)90215-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3594570">Kishimoto et al. (1987)</a> identified 5 distinct beta-subunit phenotypes among LAD patients: an undetectable beta-subunit mRNA and protein precursor; low levels of beta-subunit mRNA and precursor; an aberrantly large beta-subunit precursor, probably due to an extra glycosylation site; an aberrantly small precursor; and a grossly normal precursor. Mutant beta-subunit precursors from LAD patients failed to associate with the LFA-1 alpha subunit (alpha-L). Family studies with aberrant precursors correlated with recessive inheritance of leukocyte adhesion deficiency. <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'})"><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="#32" 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> showed that the genetic defect in leukocyte adhesion deficiency (also known as LFA-1 immunodeficiency and by several other designations) resides in the beta subunit that is common to 3 cell adhesion molecules. <a href="#14" class="mim-tip-reference" title="Boucheix, C. <strong>Personal Communication.</strong> Villejuif, France 1/31/1987."None>Boucheix (1987)</a> indicated that a tentative designation for the beta chain of these 3 proteins is CD18. The 3, each with a unique alpha chain, are CD11A (<a href="/entry/153370">153370</a>), CD11B (<a href="/entry/120980">120980</a>), and CD11C (<a href="/entry/151510">151510</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'})"><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 neutrophils from parents and sibs of patients often show half-normal amounts of CR3/LFA1/p150,95 antigens (CD18/CD11B, CD18/CD11A and CD18/CD11C, respectively) (<a href="#7" 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="#46" 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.[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://doi.org/10.1084/jem.160.6.1901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6096477">Springer et al., 1984</a>). In other cases, both parents have normal amounts of antigen or only 1 parent has half-normal amounts (<a href="#38" 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.[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>]" pmid="3899217">Ross et al., 1985</a>; <a href="#7" 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>). The only suggestion of a mode of inheritance other than autosomal recessive came from <a href="#16" 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.[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://doi.org/10.1056/NEJM198005223022102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7366657">Crowley et al. (1980)</a>, who first proposed that an adhesion defect exists in this condition. X-linked recessive inheritance was suggested because only the mother and sister of the affected male showed evidence of the carrier state; the cells of the father and brother were functionally normal and had a normal content of the relevant glycoprotein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6237120+7366657+6096477+3899217" 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="#48" 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 only, 1985."None>1985</a>, <a href="#47" 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. <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'})"><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="#17" 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.[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://doi.org/10.1172/JCI112868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2880869">Dana et al. (1987)</a> studied 4 unrelated patients with the family of 3 leukocyte adhesion molecules, which they called Leu-CAM. They called the 3 antigens Mo1, LFA-1, and Leu M5. In all 4 patients, they found that B cells synthesized a normal-sized beta-subunit precursor that either failed to 'mature' or matured only partially to the membrane-expressed form. Furthermore, B cells from all 4 patients had a single normal-sized beta-subunit mRNA of about 3.4 kb. Thus, leukocyte adhesion deficiency in these 4 patients was not due to the absence of the beta chain gene or to aberrant splicing of its mRNA. The findings were consistent with a defective beta-subunit gene (ITGB2) resulting in abnormal posttranslational processing of the synthesized beta molecule. <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'})"><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>In a patient with LAD deficiency, <a href="#5" 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="/entry/600065#0001">600065.0001</a>-<a href="/entry/600065#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="#54" 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="/entry/600065#0003">600065.0003</a>; <a href="/entry/600065#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><strong><em>Somatic Revertant Mosaicism</em></strong></p><p>
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<a href="#51" class="mim-tip-reference" title="Tone, Y., Wada, T., Shibata, F., Toma, T., Hashida, Y., Kasahara, Y., Koizumi, S., Yachie, A. <strong>Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1.</strong> Blood 109: 1182-1184, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17244687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17244687</a>] [<a href="https://doi.org/10.1182/blood-2007-08-039057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17244687">Tone et al. (2007)</a> reported an unusual case of somatic revertant mosaicism in a Japanese infant with LAD1 caused by compound heterozygosity for 2 truncating mutations in the ITGB2 gene, predicting complete loss of the CD18 antigen. However, flow cytometric analysis showed that a small proportion of the patient's memory/effector CD8+ T cells were CD18+. Sequencing of these CD18+ T cells indicated that they resulted from spontaneous site-specific single nucleotide reversion of the inherited paternal mutation. Although these T cells were functional in vitro, the patient did not show clinical improvement, likely because no reversion events had occurred in myeloid cells. <a href="#51" class="mim-tip-reference" title="Tone, Y., Wada, T., Shibata, F., Toma, T., Hashida, Y., Kasahara, Y., Koizumi, S., Yachie, A. <strong>Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1.</strong> Blood 109: 1182-1184, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17244687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17244687</a>] [<a href="https://doi.org/10.1182/blood-2007-08-039057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17244687">Tone et al. (2007)</a> concluded that somatic genetic reversion in a primary immunodeficiency can occur, but may be undetected in some cases if the changes do not result in modification of the clinical phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17244687" 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>In a retrospective survey of 162 patients in whom bone marrow transplantation was performed in 14 European centers between 1969 and 1985, <a href="#20" 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.[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://doi.org/10.1016/s0140-6736(86)90477-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2877234">Fischer et al. (1986)</a> found 4 patients with leukocyte adhesion deficiency. Bone marrow transplantation was successful; engraftment of donor cells resulted in complete restoration of leukocyte function and the absence of need for any further treatment in some of these patients. <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'})"><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="#57" 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.[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://doi.org/10.1126/science.1972597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1972597">Wilson et al. (1990)</a> corrected the genetic and functional abnormalities in a lymphocyte cell line from a patient with LAD by retrovirus-mediated transduction of a functional ITGB2 (CD18) gene. <a href="#58" 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.[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://doi.org/10.1093/hmg/2.9.1443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7902162">Yorifuji et al. (1993)</a> extended this work by reporting the introduction of human CD18 cDNA into the bone marrow progenitor cells of patients with LAD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1972597+7902162" 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="#53" 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.[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://doi.org/10.1172/JCI113407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3278007">Vedder et al. (1988)</a> showed that use of a monoclonal antibody against CD18 reduced organ injury and improved survival from hemorrhagic shock in rabbits. <a href="#31" 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.[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://doi.org/10.1172/JCI115448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1680882">Krauss et al. (1991)</a> developed an in vivo model for gene therapy of LAD. Recombinant retroviruses were used to transduce a functional human ITGB2 (CD18) gene into murine bone marrow cells which were then transplanted into lethally irradiated syngeneic recipients. Since they had human-specific CD18 monoclonal antibodies and since human CD18 can form chimeric heterodimers with murine CD11A on the cell surface, <a href="#31" 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.[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://doi.org/10.1172/JCI115448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1680882">Krauss et al. (1991)</a> were able to do a reliable flow cytometric assay for human CD18 in transplant recipients. Human CD18 was detected in leukocytes in a substantial number of transplant recipients for at least 6 months, suggesting that the gene had been transduced into stem cells. There were no apparent untoward effects. Expression was consistently highest and most frequent in granulocytes. Murine granulocytes demonstrated appropriate posttranscriptional regulation of human CD18 in response to activation of protein kinase C with PMA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3278007+1680882" 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="#27" 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.[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>]" pmid="1605311">Kehrli et al. (1992)</a> described beta-2 integrin deficiency in Holstein cattle. The disorder was characterized by recurrent pneumonia, ulcerative and granulomatous stomatitis, enteritis with bacterial overgrowth, periodontitis, delayed wound healing, persistent neutrophilia, and death at an early age. The underlying genetic defect was identified as a D128G (asp128-to-gly) amino acid substitution in the 26-amino acid sequence that is completely homologous with human and murine CD18 protein sequences. In a Holstein calf afflicted with leukocyte adhesion deficiency, <a href="#41" 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.[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://doi.org/10.1073/pnas.89.19.9225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1384046">Shuster et al. (1992)</a> found 2 point mutations: one caused a D128G substitution in a highly conserved extracellular region where several mutations have been found to cause human LAD, and the other mutation was silent. All 20 calves tested were homozygous for the D128G allele. The carrier frequency among Holstein cattle in the United States was approximately 15% among bulls and 6% among cows. All cattle with a mutant allele are related to 1 bull, who through the use of artificial insemination sired many calves in the 1950s and 1960s. It was suggested that the organization of the dairy industry and the diagnostic test described by <a href="#41" 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.[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://doi.org/10.1073/pnas.89.19.9225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1384046">Shuster et al. (1992)</a> would enable nearly complete eradication of bovine LAD within 1 year. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1384046+1605311" 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>Using homologous recombination, <a href="#40" class="mim-tip-reference" title="Scharffetter-Kochanek, K., Lu, H., Norman, K., van Nood, N., Munoz, F., Grabbe, S., McArthur, M., Lorenzo, I., Kaplan, S., Ley, K., Smith, C. W., Montgomery, C. A., Rich, S., Beaudet, A. L. <strong>Spontaneous skin ulceration and defective T cell function in CD18 null mice.</strong> J. Exp. Med. 188: 119-131, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9653089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9653089</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9653089[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/10.1084/jem.188.1.119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9653089">Scharffetter-Kochanek et al. (1998)</a> created and characterized mice with a CD18 null mutation. These mice have a phenotype closely resembling type I LAD in humans and cattle, including leukocytosis, chronic dermatitis, alopecia, and mucocutaneous infections. Intravital microscopy in these mice revealed a lack of firm neutrophil attachment to venules in the cremaster muscle in response to FMLP (see <a href="/entry/136537">136537</a>). <a href="#40" class="mim-tip-reference" title="Scharffetter-Kochanek, K., Lu, H., Norman, K., van Nood, N., Munoz, F., Grabbe, S., McArthur, M., Lorenzo, I., Kaplan, S., Ley, K., Smith, C. W., Montgomery, C. A., Rich, S., Beaudet, A. L. <strong>Spontaneous skin ulceration and defective T cell function in CD18 null mice.</strong> J. Exp. Med. 188: 119-131, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9653089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9653089</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9653089[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/10.1084/jem.188.1.119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9653089">Scharffetter-Kochanek et al. (1998)</a> also observed defective T-cell proliferation after stimulation with alloantigen or staphylococcal enterotoxin A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9653089" 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="#Akao1987" 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.">Akao et al. (1987)</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 (1987)</a>; <a href="#Back1993" 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.">Back et al. (1993)</a>; <a href="#Back1992" 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.">Back et al. (1992)</a>; <a href="#Bairoch1994" class="mim-tip-reference" title="Bairoch, A. <strong>Personal Communication.</strong> Geneva, Switzerland 5/13/1994.">Bairoch (1994)</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="#Hynes1992" class="mim-tip-reference" title="Hynes, R. O. <strong>Integrins: versatility, modulation and signaling in cell adhesion.</strong> Cell 69: 11-25, 1992.">Hynes
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(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="#Matsuura1992" 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.">Matsuura et al. (1992)</a>; <a href="#Nelson1992" 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.">Nelson et
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<ol>
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<a id="Abramson1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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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[<a href="https://doi.org/10.1016/s0022-3476(81)80011-x" target="_blank">Full Text</a>]
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<a id="Akao1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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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[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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<a id="3" class="mim-anchor"></a>
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<a id="Anderson1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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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[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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<a id="Anderson1987" class="mim-anchor"></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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[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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</p>
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<a id="Arnaout1990" class="mim-anchor"></a>
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<div class="">
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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>]
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[<a href="https://doi.org/10.1172/JCI114529" target="_blank">Full Text</a>]
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</p>
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<a id="Arnaout1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Arnaout, M. A., Pitt, J., Cohen, H. J., Melamed, J., Rosen, F. S., Colten, H. R.
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<strong>Deficiency of a granulocyte-membrane glycoprotein (gp150) in a boy with recurrent bacterial infections.</strong>
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New Eng. J. Med. 306: 693-699, 1982.
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[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>]
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[<a href="https://doi.org/10.1056/NEJM198203253061201" target="_blank">Full Text</a>]
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</p>
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<a id="Arnaout1984" class="mim-anchor"></a>
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Arnaout, M. A., Spits, H., Terhorst, C., Pitt, J., Todd, R. F., III.
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<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>
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[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>]
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[<a href="https://doi.org/10.1172/JCI111539" target="_blank">Full Text</a>]
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<a id="Back1993" class="mim-anchor"></a>
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<div class="">
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Back, A. L., Kerkering, M., Baker, D., Bauer, T. R., Embree, L. J., Hickstein, D. D.
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<strong>A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity.</strong>
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[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>]
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[<a href="https://doi.org/10.1006/bbrc.1993.1712" target="_blank">Full Text</a>]
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<a id="Back1992" class="mim-anchor"></a>
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Back, A. L., Kwok, W. W., Hickstein, D. D.
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[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>]
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<div class="">
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[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>]
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[<a href="https://doi.org/10.1016/s0140-6736(84)90933-4" target="_blank">Full Text</a>]
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[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>]
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[<a href="https://doi.org/10.1136/adc.56.5.397" target="_blank">Full Text</a>]
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<a id="Boucheix1987" class="mim-anchor"></a>
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<a id="Bowen1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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.
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[<a href="https://doi.org/10.1016/s0022-3476(82)80013-9" target="_blank">Full Text</a>]
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<a id="Crowley1980" class="mim-anchor"></a>
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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.
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[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>]
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[<a href="https://doi.org/10.1056/NEJM198005223022102" target="_blank">Full Text</a>]
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<a id="Dana1987" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1172/JCI112868" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00445916" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM197905173002003" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(79)91786-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0167-4838(86)90037-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00918742" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.89.19.9225" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI113407" target="_blank">Full Text</a>]
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<a id="54" 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.
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<strong>Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.</strong>
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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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<a id="55" 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.
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<strong>Defective initiation of the metabolic stimulation in phagocytizing granulocytes: a new congenital defect.</strong>
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J. Lab. Clin. Med. 88: 757-768, 1976.
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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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<a id="56" class="mim-anchor"></a>
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<a id="Weitzman1991" class="mim-anchor"></a>
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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.
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<strong>The gene organisation of the human beta-2 integrin subunit (CD18).</strong>
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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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<a id="57" 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">
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Wilson, J. M., Ping, A. J., Krauss, J. C., Mayo-Bond, L., Rogers, C. E., Anderson, D. C., Todd, R. F., III.
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<strong>Correction of CD18-deficient lymphocytes by retrovirus-mediated gene transfer.</strong>
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Science 248: 1413-1416, 1990.
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[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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<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>
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Hum. Molec. Genet. 2: 1443-1448, 1993.
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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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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Cassandra L. Kniffin - updated : 7/9/2008
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<span class="mim-text-font">
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Denise L. M. Goh - updated : 4/16/2003<br>Paul J. Converse - updated : 10/12/2000<br>Victor A. McKusick - updated : 10/8/1999
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Creation Date:
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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 : 6/4/1986
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carol : 08/23/2022
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carol : 08/22/2022<br>carol : 04/12/2021<br>carol : 04/11/2021<br>carol : 04/08/2021<br>mgross : 06/05/2009<br>terry : 2/3/2009<br>terry : 1/13/2009<br>terry : 1/9/2009<br>wwang : 7/16/2008<br>ckniffin : 7/9/2008<br>carol : 4/25/2007<br>carol : 4/25/2007<br>carol : 4/16/2003<br>mcapotos : 10/19/2000<br>mcapotos : 10/19/2000<br>terry : 10/12/2000<br>mgross : 10/8/1999<br>alopez : 3/2/1999<br>alopez : 7/30/1997<br>mark : 6/11/1995<br>terry : 3/7/1995<br>pfoster : 2/14/1995<br>show : 7/11/1994<br>carol : 5/16/1994<br>mimadm : 4/18/1994
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<strong>#</strong> 116920
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LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD1
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<em>Alternative titles; symbols</em>
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LEUKOCYTE ADHESION DEFICIENCY; LAD<br />
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LYMPHOCYTE FUNCTION-ASSOCIATED ANTIGEN 1 IMMUNODEFICIENCY<br />
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LFA1 IMMUNODEFICIENCY
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<strong>SNOMEDCT:</strong> 234582006;
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<strong>ORPHA:</strong> 2968, 99842;
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<strong>DO:</strong> 0110910;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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21q22.3
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<span class="mim-font">
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Leukocyte adhesion deficiency
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<span class="mim-font">
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116920
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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ITGB2
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<span class="mim-font">
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600065
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that leukocyte adhesion deficiency-1 (LAD1) is caused by homozygous or compound heterozygous mutation in the CD18 gene (ITGB2; 600065) on chromosome 21q22.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.</p><p><strong><em>Genetic Heterogeneity of Leukocyte Adhesion Deficiency</em></strong></p><p>
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Also see LAD2 (266265), caused by mutation in the SLC35C1 gene (605881), and LAD3 (612840), caused by mutation in the FERMT3 gene (607901).</p>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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<p>ITGB2 encodes the beta subunit common to 3 cell adhesion molecules: CD11A (ITGAL; 153370), CD11B (ITGAM; 120980), and CD11C (ITGAX; 151510).</p><p>The 3 alpha-integrin chains that each heterodimerize with the beta-2 chain (ITGAL, ITGAM, and ITGAX) 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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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Beginning in the 1970s, patients were recognized who had recurrent bacterial infections, defective neutrophil mobility, and delayed separation of the umbilical cord (e.g., Hayward et al., 1979). Before the elucidation by Springer et al. (1984, 1986) and Barclay et al. (1993), extraordinary confusion surrounded the group of patients with leukocyte dysfunction and deficiency of cell surface antigens (see, for example, Arnaout et al., 1982; Bowen et al., 1982; Dana et al., 1984). In the seventh edition of these catalogs (1986), one entry related to the ITGB2 locus (which is mutant in these patients), but 3 others described neutrophil dysfunction syndromes now known to be leukocyte adhesion deficiency. Confusion was created by different investigators looking at the different alpha subunits which share a common beta subunit. </p><p>Van der Meer et al. (1975) described a 'new' defect in the intracellular killing of ingested microorganisms. A sister and probably 2 brothers were affected. During infections, the white blood count was as high as 55,000 per cu mm, mostly neutrophils, with a slight shift to the left. Other patients with recurring bacterial infections were reported who had defects in initiation of the neutrophil respiratory burst to particulate but not soluble stimuli (e.g., Weening et al., 1976; Harvath and Andersen, 1979), defects in neutrophil chemotaxis and phagocytosis (e.g., Niethammer et al., 1976), or both (Harvath and Andersen, 1979). Crowley et al. (1980) were the first to propose that the defects in neutrophil chemotaxis and phagocytosis were secondary to an abnormality in cell adhesion. </p><p>Using specific monoclonal antibodies, Dana et al. (1984), Beatty et al. (1984), and others demonstrated deficiency of both the alpha and the beta subunits of Mac-1 (also designated Mo1, and as beta-2/alpha M in integrin terminology) in the neutrophils of patients of this type. Arnaout et al. (1984) and others demonstrated that the LFA-1 alpha-beta complex (beta-2/alpha-X) is also deficient on patients' neutrophils and lymphocytes. Springer et al. (1984, 1986) found that a third type of alpha-beta complex is also deficient on patients' neutrophils and lymphocytes. Springer et al. (1984, 1986) proposed that the primary defect in these patients resides in the beta subunit (which is shared by all 3 deficient proteins) and that the beta subunit is necessary for cell surface expression on the alpha subunit. Such neutrophils have a reduced phagocytic and respiratory burst response to bacteria and yeast as well as a reduced ability to adhere to various substances and migrate into sites of infection. Most of the clinical features are probably the result of neutrophil and monocyte deficiency of CR3 (beta-2/alpha-M). </p><p>There have been reports of about 30 patients with recurrent bacterial infections due to deficiency of this family of cell membrane glycoproteins. Ross (1986) tabulated the findings in reported cases. Often the first manifestation is infection of the umbilical cord stump, occasionally progressing to omphalitis (Abramson et al., 1981; Bissenden et al., 1981). Gingivitis (periodontitis) may be noted with eruption of the primary teeth. Systemic bacterial infections such as pneumonia, peritonitis, and deep abscesses are more frequent during infancy and with complete deficiency. </p><p>See review by Todd and Freyer (1988), who found reports of 41 patients in whom the clinical picture fitted that of CD18/CD11 (beta-2/alpha) glycoprotein deficiency. At least 4 patients suspected or documented to have a moderately severe variant (10% expression of CD18/CD11 glycoprotein) have survived to adulthood (Anderson et al., 1985; van der Meer et al., 1975; Weening et al., 1976) and 3 homozygous persons are known to have parented affected or presumably heterozygous offspring. </p><p>Kobayashi et al. (1984) described a 3-month-old Japanese female infant with persistent navel infection due to Pseudomonas aeruginosa since birth and recurrent bacterial skin infections. They found a severe abnormality of neutrophil adhesion on a surface, leading to a lack of chemotaxis and mild impairment of phagocytosis. Neutrophil bactericidal activity and nitroblue tetrazolium reduction were unimpaired. By sodium dodecyl sulfate polyacrylamide gel electrophoresis of neutrophil membrane proteins, 2 glycoproteins were shown to be lacking. In both parents, both glycoproteins were reduced. Fujita et al. (1985) reported the subsequent birth of a male sib with the same defect. Fujita et al. (1988) described juvenile rheumatoid arthritis of systemic onset in these sibs, then aged 5 and 3 years, respectively, who had a severe form of congenital leukocyte adhesion deficiency. </p><p>Etzioni and Harlan (1999) provided a comprehensive review of both type I (LAD1) and type II LAD (LAD2; 266265). While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.</p>
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</span>
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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>Biochemical Features</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>Kishimoto et al. (1987) identified 5 distinct beta-subunit phenotypes among LAD patients: an undetectable beta-subunit mRNA and protein precursor; low levels of beta-subunit mRNA and precursor; an aberrantly large beta-subunit precursor, probably due to an extra glycosylation site; an aberrantly small precursor; and a grossly normal precursor. Mutant beta-subunit precursors from LAD patients failed to associate with the LFA-1 alpha subunit (alpha-L). Family studies with aberrant precursors correlated with recessive inheritance of leukocyte adhesion deficiency. </p><p>Marlin et al. (1986) showed that the genetic defect in leukocyte adhesion deficiency (also known as LFA-1 immunodeficiency and by several other designations) resides in the beta subunit that is common to 3 cell adhesion molecules. Boucheix (1987) indicated that a tentative designation for the beta chain of these 3 proteins is CD18. The 3, each with a unique alpha chain, are CD11A (153370), CD11B (120980), and CD11C (151510). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</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 neutrophils from parents and sibs of patients often show half-normal amounts of CR3/LFA1/p150,95 antigens (CD18/CD11B, CD18/CD11A and CD18/CD11C, respectively) (Arnaout et al., 1984; Springer et al., 1984). In other cases, both parents have normal amounts of antigen or only 1 parent has half-normal amounts (Ross et al., 1985; Arnaout et al., 1984). The only suggestion of a mode of inheritance other than autosomal recessive came from Crowley et al. (1980), who first proposed that an adhesion defect exists in this condition. X-linked recessive inheritance was suggested because only the mother and sister of the affected male showed evidence of the carrier state; the cells of the father and brother were functionally normal and had a normal content of the relevant glycoprotein. </p>
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</span>
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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>Mapping</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>Suomalainen et al. (1985, 1986) showed that the integrin beta-2 gene is located on chromosome 21. </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">
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<strong>Pathogenesis</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>Dana et al. (1987) studied 4 unrelated patients with the family of 3 leukocyte adhesion molecules, which they called Leu-CAM. They called the 3 antigens Mo1, LFA-1, and Leu M5. In all 4 patients, they found that B cells synthesized a normal-sized beta-subunit precursor that either failed to 'mature' or matured only partially to the membrane-expressed form. Furthermore, B cells from all 4 patients had a single normal-sized beta-subunit mRNA of about 3.4 kb. Thus, leukocyte adhesion deficiency in these 4 patients was not due to the absence of the beta chain gene or to aberrant splicing of its mRNA. The findings were consistent with a defective beta-subunit gene (ITGB2) resulting in abnormal posttranslational processing of the synthesized beta molecule. </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">
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<strong>Molecular Genetics</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>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><strong><em>Somatic Revertant Mosaicism</em></strong></p><p>
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Tone et al. (2007) reported an unusual case of somatic revertant mosaicism in a Japanese infant with LAD1 caused by compound heterozygosity for 2 truncating mutations in the ITGB2 gene, predicting complete loss of the CD18 antigen. However, flow cytometric analysis showed that a small proportion of the patient's memory/effector CD8+ T cells were CD18+. Sequencing of these CD18+ T cells indicated that they resulted from spontaneous site-specific single nucleotide reversion of the inherited paternal mutation. Although these T cells were functional in vitro, the patient did not show clinical improvement, likely because no reversion events had occurred in myeloid cells. Tone et al. (2007) concluded that somatic genetic reversion in a primary immunodeficiency can occur, but may be undetected in some cases if the changes do not result in modification of the clinical phenotype. </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">
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<strong>Diagnosis</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>Diagnosis of hereditary deficiency of CR3 is facilitated by commercial availability of monoclonal antibodies specific for the alpha-integrin chains of CR3 and p150,95.</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">
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<strong>Clinical Management</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>In a retrospective survey of 162 patients in whom bone marrow transplantation was performed in 14 European centers between 1969 and 1985, Fischer et al. (1986) found 4 patients with leukocyte adhesion deficiency. Bone marrow transplantation was successful; engraftment of donor cells resulted in complete restoration of leukocyte function and the absence of need for any further treatment in some of these patients. </p><p>Wilson et al. (1990) corrected the genetic and functional abnormalities in a lymphocyte cell line from a patient with LAD by retrovirus-mediated transduction of a functional ITGB2 (CD18) gene. Yorifuji et al. (1993) extended this work by reporting the introduction of human CD18 cDNA into the bone marrow progenitor cells of patients with LAD. </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">
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<strong>Animal Model</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>Vedder et al. (1988) showed that use of a monoclonal antibody against CD18 reduced organ injury and improved survival from hemorrhagic shock in rabbits. Krauss et al. (1991) developed an in vivo model for gene therapy of LAD. Recombinant retroviruses were used to transduce a functional human ITGB2 (CD18) gene into murine bone marrow cells which were then transplanted into lethally irradiated syngeneic recipients. Since they had human-specific CD18 monoclonal antibodies and since human CD18 can form chimeric heterodimers with murine CD11A on the cell surface, Krauss et al. (1991) were able to do a reliable flow cytometric assay for human CD18 in transplant recipients. Human CD18 was detected in leukocytes in a substantial number of transplant recipients for at least 6 months, suggesting that the gene had been transduced into stem cells. There were no apparent untoward effects. Expression was consistently highest and most frequent in granulocytes. Murine granulocytes demonstrated appropriate posttranscriptional regulation of human CD18 in response to activation of protein kinase C with PMA. </p><p>Kehrli et al. (1992) described beta-2 integrin deficiency in Holstein cattle. The disorder was characterized by recurrent pneumonia, ulcerative and granulomatous stomatitis, enteritis with bacterial overgrowth, periodontitis, delayed wound healing, persistent neutrophilia, and death at an early age. The underlying genetic defect was identified as a D128G (asp128-to-gly) amino acid substitution in the 26-amino acid sequence that is completely homologous with human and murine CD18 protein sequences. In a Holstein calf afflicted with leukocyte adhesion deficiency, Shuster et al. (1992) found 2 point mutations: one caused a D128G substitution in a highly conserved extracellular region where several mutations have been found to cause human LAD, and the other mutation was silent. All 20 calves tested were homozygous for the D128G allele. The carrier frequency among Holstein cattle in the United States was approximately 15% among bulls and 6% among cows. All cattle with a mutant allele are related to 1 bull, who through the use of artificial insemination sired many calves in the 1950s and 1960s. It was suggested that the organization of the dairy industry and the diagnostic test described by Shuster et al. (1992) would enable nearly complete eradication of bovine LAD within 1 year. </p><p>Using homologous recombination, Scharffetter-Kochanek et al. (1998) created and characterized mice with a CD18 null mutation. These mice have a phenotype closely resembling type I LAD in humans and cattle, including leukocytosis, chronic dermatitis, alopecia, and mucocutaneous infections. Intravital microscopy in these mice revealed a lack of firm neutrophil attachment to venules in the cremaster muscle in response to FMLP (see 136537). Scharffetter-Kochanek et al. (1998) also observed defective T-cell proliferation after stimulation with alloantigen or staphylococcal enterotoxin A. </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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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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Akao et al. (1987); Anderson and Springer (1987); Back et al. (1993);
|
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Back et al. (1992); Bairoch (1994); Hibbs et al. (1990); Hynes
|
|
(1992); Kishimoto et al. (1987); Matsuura et al. (1992); Nelson et
|
|
al. (1992); Petersen et al. (1991); Pierce et al. (1986); Sligh et
|
|
al. (1989); Solomon et al. (1988); Springer et al. (1985); Taylor et
|
|
al. (1988); Weitzman et al. (1991)
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Abramson, J. S., Mills, E. L., Sawyer, M. K., Regelman, 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: 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">
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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: 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>
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<p class="mim-text-font">
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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: 3900232]
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[Full Text: https://doi.org/10.1093/infdis/152.4.668]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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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: 3555290]
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[Full Text: https://doi.org/10.1146/annurev.me.38.020187.001135]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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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: 1968911]
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[Full Text: https://doi.org/10.1172/JCI114529]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Arnaout, M. A., Pitt, J., Cohen, H. J., Melamed, J., Rosen, F. S., Colten, H. R.
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<strong>Deficiency of a granulocyte-membrane glycoprotein (gp150) in a boy with recurrent bacterial infections.</strong>
|
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New Eng. J. Med. 306: 693-699, 1982.
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[PubMed: 6278303]
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[Full Text: https://doi.org/10.1056/NEJM198203253061201]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Arnaout, M. A., Spits, H., Terhorst, C., Pitt, J., Todd, R. F., III.
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<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>
|
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J. Clin. Invest. 74: 1291-1300, 1984.
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[PubMed: 6237120]
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[Full Text: https://doi.org/10.1172/JCI111539]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Back, A. L., Kerkering, M., Baker, D., Bauer, T. R., Embree, L. J., Hickstein, D. D.
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<strong>A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity.</strong>
|
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Biochem. Biophys. Res. Commun. 193: 912-918, 1993.
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[PubMed: 7686755]
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[Full Text: https://doi.org/10.1006/bbrc.1993.1712]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Back, A. L., Kwok, W. W., Hickstein, D. D.
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<strong>Identification of two molecular defects in a child with leukocyte adherence deficiency.</strong>
|
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J. Biol. Chem. 267: 5482-5487, 1992.
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[PubMed: 1347532]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bairoch, A.
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<strong>Personal Communication.</strong>
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Geneva, Switzerland 5/13/1994.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Barclay, A. N., Birkeland, M. L., Brown, M. H., Beyers, A. D., Davis, S. J., Somoza, C., Williams, A. F.
|
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<strong>The Leukocyte Antigen Facts Book.</strong>
|
|
New York: Academic Press (pub.) 1993. Pp. 124-127 and 140-141.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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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.
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[PubMed: 6142255]
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[Full Text: https://doi.org/10.1016/s0140-6736(84)90933-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bissenden, J. G., Haeney, M. R., Tarlow, M. J., Thompson, R. A.
|
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<strong>Delayed separation of the umbilical cord, severe widespread infections and immunodeficiency.</strong>
|
|
Arch. Dis. Child. 56: 397-399, 1981.
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[PubMed: 7259263]
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[Full Text: https://doi.org/10.1136/adc.56.5.397]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Boucheix, C.
|
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<strong>Personal Communication.</strong>
|
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Villejuif, France 1/31/1987.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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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.
|
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<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.
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[PubMed: 7143170]
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[Full Text: https://doi.org/10.1016/s0022-3476(82)80013-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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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.
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Vedder, N. B., Winn, R. K., Rice, C. L., Chi, E. Y., Arfors, K.-E., Harlan, J. M.
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Wardlaw, A. J., Hibbs, M. L., Stacker, S. A., Springer, T. A.
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Weitzman, J. B., Wells, C. E., Wright, A. H., Clark, P. A., Law, S. K. A.
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<strong>The gene organisation of the human beta-2 integrin subunit (CD18).</strong>
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Wilson, J. M., Ping, A. J., Krauss, J. C., Mayo-Bond, L., Rogers, C. E., Anderson, D. C., Todd, R. F., III.
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<strong>Correction of CD18-deficient lymphocytes by retrovirus-mediated gene transfer.</strong>
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Yorifuji, T., Wilson, R. W., Beaudet, A. L.
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Cassandra L. Kniffin - updated : 7/9/2008<br>Denise L. M. Goh - updated : 4/16/2003<br>Paul J. Converse - updated : 10/12/2000<br>Victor A. McKusick - updated : 10/8/1999
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Victor A. McKusick : 6/4/1986
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