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Entry
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- *608958 - ADENOSINE DEAMINASE; ADA
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- OMIM
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<p>
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<span class="h4">*608958</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608958">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li 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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<h4 class="panel-title">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000196839;t=ENST00000372874" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=100" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=608958" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000196839;t=ENST00000372874" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000022,NM_001322050,NM_001322051,NR_136160" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000022" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=608958" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=00038&isoform_id=00038_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/ADA" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/28380,113339,178077,1197210,13236883,14043373,25955532,47078295,62898355,119596310,119596311,119596312,119596313,311820261,311820405,608785127,957948863,957948866,957948869,957948872,1015205523,1015210247" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P00813" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=100" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000196839;t=ENST00000372874" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=ADA" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=ADA" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+100" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/ADA" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:100" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/100" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr20&hgg_gene=ENST00000372874.9&hgg_start=44619522&hgg_end=44651699&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:186" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/ada" 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=608958[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608958[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000196839" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=ADA" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=ADA" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ADA" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://structure.bmc.lu.se/idbase/ADAbase/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ADA&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA24503" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:186" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:87916" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/ADA#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:87916" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/100/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=100" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00015551;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040718-393" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
|
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
|
<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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</div>
|
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</a>
|
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</span>
|
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</span>
|
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</div>
|
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<div id="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:608958" 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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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
|
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:100" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=ADA&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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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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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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608958
|
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</span>
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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ADENOSINE DEAMINASE; ADA
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</span>
|
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
ADENOSINE AMINOHYDROLASE
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ADA" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ADA</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/20/314?start=-3&limit=10&highlight=314">20q13.12</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr20:44619522-44651699&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">20:44,619,522-44,651,699</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
|
|
|
|
</span>
|
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</p>
|
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</div>
|
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|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/20/314?start=-3&limit=10&highlight=314">
|
|
20q13.12
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Adenosine deaminase deficiency, partial
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/102700"> 102700 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Somatic mosaicism">SMo</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Severe combined immunodeficiency due to ADA deficiency
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/102700"> 102700 </a>
|
|
|
|
</span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The ADA gene encodes adenosine deaminase (<a href="https://enzyme.expasy.org/EC/3.5.4.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.5.4.4</a>), an enzyme that catalyzes the irreversible deamination of adenosine and deoxyadenosine in the purine catabolic pathway. See DPP4 (<a href="/entry/102720">102720</a>) for description of an adenosine deaminase complexing protein.</p>
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<p><a href="#59" class="mim-tip-reference" title="Wiginton, D. A., Adrian, G. S., Friedman, R. L., Suttle, D. P., Hutton, J. J. <strong>Cloning of cDNA sequences of human adenosine deaminase.</strong> Proc. Nat. Acad. Sci. 80: 7481-7485, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6200875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6200875</a>] [<a href="https://doi.org/10.1073/pnas.80.24.7481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6200875">Wiginton et al. (1983)</a> isolated partial ADA cDNA sequences from a human T-cell lymphoblast cDNA library. Northern blot analysis detected a minor 5.8-kb and a major 1.6-kb mRNA transcript. ADA immunoreactive protein and translatable ADA mRNA were found to be 6 to 8 times higher in T-lymphoblast lines than in B-lymphoblast lines, which corresponded to increased ADA catalytic activity and protein in T cells compared to B cells. The differences are due mainly to differences in the rate of degradation of the ADA protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6200875" 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="#58" class="mim-tip-reference" title="Valerio, D., McIvor, R. S., Williams, S. R., Duyvesteyn, M. G. C., van Ormondt, H., van der Eb, A. J., Martin, D. W., Jr. <strong>Cloning of human adenosine deaminase cDNA and expression in mouse cells.</strong> Gene 31: 147-153, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6526272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6526272</a>] [<a href="https://doi.org/10.1016/0378-1119(84)90205-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6526272">Valerio et al. (1984)</a> isolated a full-length ADA cDNA encoding a 363-amino acid protein with a molecular mass of 40 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6526272" 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="#56" class="mim-tip-reference" title="Valerio, D., Duyvesteyn, M. G. C., Dekker, B. M. M., Weeda, G., Berkvens, T. M., van der Voorn, L., van Ormondt, H., van der Eb, A. J. <strong>Adenosine deaminase: characterization and expression of a gene with a remarkable promoter.</strong> EMBO J. 4: 437-443, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839456</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1985.tb03648.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3839456">Valerio et al. (1985)</a> determined that the ADA gene spans 32 kb and contains 12 exons. <a href="#61" class="mim-tip-reference" title="Wiginton, D. A., Kaplan, D. J., States, J. C., Akeson, A. L., Perme, C. M., Bilyk, I. J., Vaughn, A. J., Lattier, D. L., Hutton, J. J. <strong>Complete sequence and structure of the gene for human adenosine deaminase.</strong> Biochemistry 25: 8234-8244, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3028473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3028473</a>] [<a href="https://doi.org/10.1021/bi00373a017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3028473">Wiginton et al. (1986)</a> reported the complete sequence and structure of the human ADA gene. <a href="#34" class="mim-tip-reference" title="Kalman, L., Lindegren, M. L., Kobrynski, L., Vogt, R., Hannon, H., Howard, J. T., Buckley, R. <strong>Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review.</strong> Genet. Med. 6: 16-26, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14726805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14726805</a>] [<a href="https://doi.org/10.1097/01.GIM.0000105752.80592.A3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14726805">Kalman et al. (2004)</a> stated that the ADA gene contains 10 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3028473+14726805+3839456" 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>By somatic cell hybridization, <a href="#20" class="mim-tip-reference" title="Creagan, R. P., Tischfield, J. A., Nichols, E. A., Ruddle, F. H. <strong>Autosomal assignment of the gene for the form of adenosine deaminase which is deficient in patients with combined immunodeficiency syndrome. (Letter)</strong> Lancet 302: 1449 only, 1973. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4128766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4128766</a>] [<a href="https://doi.org/10.1016/s0140-6736(73)92850-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4128766">Creagan et al. (1973)</a> and <a href="#52" class="mim-tip-reference" title="Tischfield, J. A., Creagan, R. P., Nichols, E. A., Ruddle, F. H. <strong>Assignment of a gene for adenosine deaminase to human chromosome 20.</strong> Hum. Hered. 24: 1-11, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4136545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4136545</a>] [<a href="https://doi.org/10.1159/000152631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4136545">Tischfield et al. (1974)</a> mapped the ADA gene to chromosome 20. <a href="#58" class="mim-tip-reference" title="Valerio, D., McIvor, R. S., Williams, S. R., Duyvesteyn, M. G. C., van Ormondt, H., van der Eb, A. J., Martin, D. W., Jr. <strong>Cloning of human adenosine deaminase cDNA and expression in mouse cells.</strong> Gene 31: 147-153, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6526272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6526272</a>] [<a href="https://doi.org/10.1016/0378-1119(84)90205-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6526272">Valerio et al. (1984)</a> used an ADA cDNA probe in Southern hybridizations with DNA from a hybrid cell panel to assign the gene to chromosome 20. <a href="#39" class="mim-tip-reference" title="Mohandas, T., Sparkes, R. S., Suh, E. J., Hershfield, M. S. <strong>Regional localization of the human genes for S-adenosylhomocysteine hydrolase (cen-q131) and adenosine deaminase (q131-qter) on chromosome 20.</strong> Hum. Genet. 66: 292-295, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6586634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6586634</a>] [<a href="https://doi.org/10.1007/BF00287630" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6586634">Mohandas et al. (1984)</a> reported that the genes for ADA and SAHH are on separate parts of 20q, separated by 20q13.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6586634+6526272+4128766+4136545" 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>Gene dosage studies of adenosine deaminase and inosine triphosphatase provided corroboration of partial trisomy 20 diagnosed cytogenetically (<a href="#47" class="mim-tip-reference" title="Rudd, N. L., Bain, H. W., Giblett, E., Chen, S.-H., Worton, R. G. <strong>Partial trisomy 20 confirmed by gene dosage studies.</strong> Am. J. Med. Genet. 4: 357-364, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/231907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">231907</a>] [<a href="https://doi.org/10.1002/ajmg.1320040407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="231907">Rudd et al., 1979</a>). <a href="#40" class="mim-tip-reference" title="Nielsen, K. B., Tommerup, N., Jespersen, B., Nygaard, P., Kleif, L. <strong>Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six persons.</strong> J. Med. Genet. 23: 446-451, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3783621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3783621</a>] [<a href="https://doi.org/10.1136/jmg.23.5.446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3783621">Nielsen et al. (1986)</a> studied ADA in a case of partial trisomy 20q resulting from a familial t(3;20) translocation. Gene dosage studies seemed to exclude the ADA gene from the distal part of 20q (20q13.1-qter). By dosage effect in a patient with deletion of 20q, <a href="#43" class="mim-tip-reference" title="Petersen, M. B., Tranebjaerg, L., Tommerup, N., Nygaard, P., Edwards, H. <strong>New assignment of the adenosine deaminase gene locus to chromosome 20q13.11 by study of a patient with interstitial deletion 20q.</strong> J. Med. Genet. 24: 93-96, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3560174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3560174</a>] [<a href="https://doi.org/10.1136/jmg.24.2.93" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3560174">Petersen et al. (1987)</a> assigned the ADA locus to 20q13.11. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3783621+231907+3560174" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By means of in situ hybridization to high resolution spreads of somatic and pachytene chromosomes, <a href="#32" class="mim-tip-reference" title="Jhanwar, S. C., Berkvens, T. M., Breukel, C., van Ormondt, H., van der Eb, A. J., Meera Khan, P. <strong>Localization of human adenosine deaminase (ADA) gene sequences to the q12-q13.11 region of chromosome 20 by in situ hybridization.</strong> Cytogenet. Cell Genet. 50: 168-171, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2776485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2776485</a>] [<a href="https://doi.org/10.1159/000132752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2776485">Jhanwar et al. (1989)</a> localized the ADA gene to 20q12-q13.11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2776485" 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="#45" class="mim-tip-reference" title="Rothschild, C. B., Akots, G., Hayworth, R., Pettenati, M. J., Rao, P. N., Wood, P., Stolz, F.-M., Hansmann, I., Serino, K., Keith, T. P., Fajans, S. S., Bowden, D. W. <strong>A genetic map of chromosome 20q12-q13.1: multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locus.</strong> Am. J. Hum. Genet. 52: 110-123, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8094595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8094595</a>]" pmid="8094595">Rothschild et al. (1993)</a> identified and mapped new dinucleotide repeat polymorphisms associated with the ADA locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8094595" 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>Severe Combined Immunodeficiency due to ADA Deficiency</em></strong></p><p>
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In cell lines from 2 patients with severe combined immunodeficiency (SCID) due to ADA deficiency (<a href="/entry/102700">102700</a>), <a href="#2" class="mim-tip-reference" title="Adrian, G. S., Hutton, J. J. <strong>Adenosine deaminase messenger RNAs in lymphoblast cell lines derived from leukemic patients and patients with hereditary adenosine deaminase deficiency.</strong> J. Clin. Invest. 71: 1649-1660, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6134754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6134754</a>] [<a href="https://doi.org/10.1172/jci110920" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6134754">Adrian and Hutton (1983)</a> and <a href="#59" class="mim-tip-reference" title="Wiginton, D. A., Adrian, G. S., Friedman, R. L., Suttle, D. P., Hutton, J. J. <strong>Cloning of cDNA sequences of human adenosine deaminase.</strong> Proc. Nat. Acad. Sci. 80: 7481-7485, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6200875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6200875</a>] [<a href="https://doi.org/10.1073/pnas.80.24.7481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6200875">Wiginton et al. (1983)</a> found 3- to 4-fold increased levels of normal translatable ADA mRNA compared to normal controls. The authors suggested that the cellular ADA deficiency was secondary to rapid degradation of a defective ADA protein. Similar results were found by <a href="#3" class="mim-tip-reference" title="Adrian, G. S., Wiginton, D. A., Hutton, J. J. <strong>Characterization of normal and mutant adenosine deaminase messenger RNAs by translation and hybridization to a cDNA probe.</strong> Hum. Genet. 68: 169-172, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6548726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6548726</a>] [<a href="https://doi.org/10.1007/BF00279309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6548726">Adrian et al. (1984)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6200875+6134754+6548726" 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 patients with SCID due to ADA deficiency, <a href="#8" class="mim-tip-reference" title="Akeson, A. L., Wiginton, D. A., States, J. C., Perme, C. M., Dusing, M. R., Hutton, J. J. <strong>Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.</strong> Proc. Nat. Acad. Sci. 84: 5947-5951, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3475710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3475710</a>] [<a href="https://doi.org/10.1073/pnas.84.16.5947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3475710">Akeson et al. (1987)</a> identified several biallelic mutations in the ADA gene (see, e.g., <a href="#0004">608958.0004</a>; <a href="#0006">608958.0006</a>; <a href="#0017">608958.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3475710" 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="#53" class="mim-tip-reference" title="Tzall, S., Ellenbogen, A., Eng, F., Hirschhorn, R. <strong>Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus.</strong> Am. J. Hum. Genet. 44: 864-875, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2567118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2567118</a>]" pmid="2567118">Tzall et al. (1989)</a> identified and/or characterized at least 9 RFLPs at the ADA locus and studied these in 17 patients with complete ADA deficiency and in 10 patients with partial ADA deficiency. Genetic compounds and homozygous haplotypes were identified among both types of patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2567118" 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>Delayed or Late Onset</em></strong></p><p>
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In 7 patients with delayed or late onset of SCID due to ADA deficiency, <a href="#48" class="mim-tip-reference" title="Santisteban, I., Arredondo-Vega, F. X., Kelly, S., Mary, A., Fischer, A., Hummell, D. S., Lawton, A., Sorensen, R. U., Stiehm, E. R., Uribe, L., Weinberg, K., Hershfield, M. S. <strong>Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease: contribution of genotype to phenotype.</strong> J. Clin. Invest. 92: 2291-2302, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8227344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8227344</a>] [<a href="https://doi.org/10.1172/JCI116833" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8227344">Santisteban et al. (1993)</a> identified mutations in the ADA gene (see, e.g., <a href="#0020">608958.0020</a> and <a href="#0032">608958.0032</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8227344" 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>Partial ADA Deficiency</em></strong></p><p>
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In 7 patients with partial ADA deficiency identified by a New York State newborn screening program, <a href="#27" class="mim-tip-reference" title="Hirschhorn, R., Tzall, S., Ellenbogen, A. <strong>Hot spot mutations in adenosine deaminase deficiency.</strong> Proc. Nat. Acad. Sci. 87: 6171-6175, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2166947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2166947</a>] [<a href="https://doi.org/10.1073/pnas.87.16.6171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2166947">Hirschhorn et al. (1990)</a> identified biallelic mutations in the ADA gene (<a href="#0010">608958.0010</a>-<a href="#0015">608958.0015</a>). Six of the 7 children either came from a limited area in the Caribbean or shared a black ethnic background, suggesting a founder effect; however, the finding of multiple new mutations suggested that partial ADA deficiency offered a selective advantage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2166947" 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>Gene Reversion</em></strong></p><p>
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Hirschhorn et al. (<a href="#28" class="mim-tip-reference" title="Hirschhorn, R., Yang, D. R., Israni, A., Huie, M. L., Ownby, D. R. <strong>Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.</strong> Am. J. Hum. Genet. 55: 59-68, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8023852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8023852</a>]" pmid="8023852">1994</a>, <a href="#30" class="mim-tip-reference" title="Hirschhorn, R., Yang, D. R., Puck, J. M., Huie, M. L., Jiang, C.-K., Kurlandsky, L. E. <strong>Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.</strong> Nature Genet. 13: 290-295, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673127</a>] [<a href="https://doi.org/10.1038/ng0796-290" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8673127">1996</a>) described unusual cases of somatic mosaicism due to in vivo reversion to normal of an inherited mutation in the ADA gene (<a href="#0024">608958.0024</a>; <a href="#0032">608958.0032</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8673127+8023852" 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>By means of a new and specific method, <a href="#50" class="mim-tip-reference" title="Spencer, N., Hopkinson, D. A., Harris, H. <strong>Adenosine deaminase polymorphism in man.</strong> Ann. Hum. Genet. 32: 9-14, 1968."None>Spencer et al. (1968)</a> demonstrated isozymes of erythrocyte adenosine deaminase and showed that there are 3 genetically determined phenotypes: ADA-1, ADA-2/1 and ADA-2. The frequency of the ADA-2 allele was estimated at 0.06 in Europeans, 0.04 in Blacks, and 0.11 in Asiatic Indians. Data on gene frequencies of allelic variants were tabulated by <a href="#46" class="mim-tip-reference" title="Roychoudhury, A. K., Nei, M. <strong>Human Polymorphic Genes: World Distribution.</strong> New York: Oxford Univ. Press (pub.) 1988."None>Roychoudhury and Nei (1988)</a>.</p>
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<p>In mice overexpressing Il13 (<a href="/entry/147683">147683</a>) in the lung, <a href="#16" class="mim-tip-reference" title="Blackburn, M. R., Lee, C. G., Young, H. W. J., Zhu, Z., Chunn, J. L., Kang, M. J., Banerjee, S. K., Elias, J. A. <strong>Adenosine mediates IL-13-induced inflammation and remodeling in the lung and interacts in an IL-13-adenosine amplification pathway.</strong> J. Clin. Invest. 112: 332-344, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12897202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12897202</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12897202[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI16815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12897202">Blackburn et al. (2003)</a> observed pulmonary inflammation and remodeling accompanied by a progressive increase in adenosine accumulation, inhibition of ADA activity and mRNA accumulation, and increased expression of several adenosine receptors (see <a href="/entry/102776">102776</a>). Ada enzyme therapy diminished the Il13-induced increase in adenosine, inhibited Il13-induced inflammation, chemokine elaboration, fibrosis, and alveolar destruction, and prolonged the survival of Il13 transgenic mice. Il13 was strongly induced by adenosine in Ada-null mice. <a href="#16" class="mim-tip-reference" title="Blackburn, M. R., Lee, C. G., Young, H. W. J., Zhu, Z., Chunn, J. L., Kang, M. J., Banerjee, S. K., Elias, J. A. <strong>Adenosine mediates IL-13-induced inflammation and remodeling in the lung and interacts in an IL-13-adenosine amplification pathway.</strong> J. Clin. Invest. 112: 332-344, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12897202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12897202</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12897202[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI16815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12897202">Blackburn et al. (2003)</a> concluded that adenosine and adenosine signaling contribute to and influence the severity of IL13-induced tissue responses and that IL13 and adenosine stimulate one another in an amplification pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12897202" 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>This variant, formerly titled SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, has been reclassified based on the findings of <a href="#12" class="mim-tip-reference" title="Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Ganusova, E. E., Mudge, J., Langley, R. J., Zhang, L., Lee, C. C., Schilkey, F. D., Sheth, V., Woodward, J. E., Peckham, H. E., Schroth, G. P., Kim, R. W., Kingsmore, S. F. <strong>Carrier testing for severe childhood recessive diseases by next-generation sequencing.</strong> Sci. Transl. Med. 3: 65ra4, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21228398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21228398</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21228398[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/10.1126/scitranslmed.3001756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21228398">Bell et al. (2011)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21228398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with SCID due to ADA deficiency (<a href="/entry/102700">102700</a>) originally reported by <a href="#22" class="mim-tip-reference" title="Hirschhorn, R., Beratis, N., Rosen, F. S., Parkman, R., Stern, R., Polmar, S. <strong>Adenosine-deaminase deficiency in a child diagnosed prenatally.</strong> Lancet 305: 73-75, 1975. Note: Originally Volume 1.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/46025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">46025</a>] [<a href="https://doi.org/10.1016/s0140-6736(75)91075-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="46025">Hirschhorn et al. (1975)</a>, <a href="#55" class="mim-tip-reference" title="Valerio, D., Dekker, B. M. M., Duyvesteyn, M. G. C., van der Voorn, L., Berkvens, T. M., van Ormondt, H., van der Eb, A. J. <strong>One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.</strong> EMBO J. 5: 113-119, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3007108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3007108</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1986.tb04184.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3007108">Valerio et al. (1986)</a> identified compound heterozygosity for 2 mutations in the ADA gene: lys80 to arg (K80R) and L304R (<a href="#0005">608958.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3007108+46025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a preconception carrier screen for 448 severe recessive childhood diseases involving 437 target genes, <a href="#12" class="mim-tip-reference" title="Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Ganusova, E. E., Mudge, J., Langley, R. J., Zhang, L., Lee, C. C., Schilkey, F. D., Sheth, V., Woodward, J. E., Peckham, H. E., Schroth, G. P., Kim, R. W., Kingsmore, S. F. <strong>Carrier testing for severe childhood recessive diseases by next-generation sequencing.</strong> Sci. Transl. Med. 3: 65ra4, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21228398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21228398</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21228398[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/10.1126/scitranslmed.3001756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21228398">Bell et al. (2011)</a> found that the K80R mutation in ADA is a polymorphism carried by unaffected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21228398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908717 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908717;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908717" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908717" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002032" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002032" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002032</a>
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<p>In a patient with SCID due to ADA deficiency (<a href="/entry/102700">102700</a>), <a href="#6" class="mim-tip-reference" title="Akeson, A. L., Wiginton, D. A., Dusing, M. R., States, J. C., Hutton, J. J. <strong>Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.</strong> J. Biol. Chem. 263: 16291-16296, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3182793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3182793</a>]" pmid="3182793">Akeson et al. (1988)</a> identified compound heterozygosity for 2 mutations in the ADA gene: a C-to-T transition, resulting in an arg101-to-trp (R101W) substitution, and R211H (<a href="#0004">608958.0004</a>). Functional expression studies showed that the mutant genes were transcribed into normal mRNA but did not encode functional proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3182793" 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 T cells from the patient reported by <a href="#6" class="mim-tip-reference" title="Akeson, A. L., Wiginton, D. A., Dusing, M. R., States, J. C., Hutton, J. J. <strong>Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.</strong> J. Biol. Chem. 263: 16291-16296, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3182793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3182793</a>]" pmid="3182793">Akeson et al. (1988)</a> with the R101W and R211H mutations, <a href="#9" class="mim-tip-reference" title="Arredondo-Vega, F. X., Kurtzberg, J., Chaffee, S., Santisteban, I., Reisner, E., Povey, M. S., Hershfield, M. S. <strong>Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combined immunodeficiency.</strong> J. Clin. Invest. 86: 444-452, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1974554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1974554</a>] [<a href="https://doi.org/10.1172/JCI114730" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1974554">Arredondo-Vega et al. (1990)</a> found that the R101W mutation could be expressed selectively in IL2-dependent T cells as a stable, active enzyme. Cultured T cells from other patients with the R211H mutation did not express significant ADA activity, whereas some B-cell lines from a patient with an R101Q (<a href="/entry/608598#0003">608598.0003</a>) mutation had normal ADA activity. <a href="#9" class="mim-tip-reference" title="Arredondo-Vega, F. X., Kurtzberg, J., Chaffee, S., Santisteban, I., Reisner, E., Povey, M. S., Hershfield, M. S. <strong>Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combined immunodeficiency.</strong> J. Clin. Invest. 86: 444-452, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1974554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1974554</a>] [<a href="https://doi.org/10.1172/JCI114730" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1974554">Arredondo-Vega et al. (1990)</a> speculated that arg101 may be at a site that determines degradation of ADA by a protease that is under negative control by IL2 in T cells, and is variably expressed in B cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1974554+3182793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908714 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908714;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908714?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002033 OR RCV000788281 OR RCV003234887" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002033, RCV000788281, RCV003234887" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002033...</a>
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<p>In a cell line from a patient with SCID due to ADA deficiency (<a href="/entry/102700">102700</a>), <a href="#18" class="mim-tip-reference" title="Bonthron, D. T., Markham, A. F., Ginsburg, D., Orkin, S. H. <strong>Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.</strong> J. Clin. Invest. 76: 894-897, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839802</a>] [<a href="https://doi.org/10.1172/JCI112050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3839802">Bonthron et al. (1985)</a> identified a G-to-A transition in exon 4 of the ADA gene, resulting in an arg101-to-gln (R101Q) substitution. Since the predicted primary structure of the enzyme was normal, the mutation was apparently responsible for loss of function in the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3839802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002034 OR RCV000756972" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002034, RCV000756972" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002034...</a>
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<p>In a patient with SCID due to ADA deficiency (<a href="/entry/102700">102700</a>), <a href="#8" class="mim-tip-reference" title="Akeson, A. L., Wiginton, D. A., States, J. C., Perme, C. M., Dusing, M. R., Hutton, J. J. <strong>Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.</strong> Proc. Nat. Acad. Sci. 84: 5947-5951, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3475710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3475710</a>] [<a href="https://doi.org/10.1073/pnas.84.16.5947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3475710">Akeson et al. (1987)</a> identified compound heterozygosity for 2 mutations in the ADA gene: a G-to-A transition in exon 7, resulting in an arg211-to-his (R211H) substitution, and A329V (<a href="#0006">608958.0006</a>). In another SCID patient, <a href="#6" class="mim-tip-reference" title="Akeson, A. L., Wiginton, D. A., Dusing, M. R., States, J. C., Hutton, J. J. <strong>Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.</strong> J. Biol. Chem. 263: 16291-16296, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3182793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3182793</a>]" pmid="3182793">Akeson et al. (1988)</a> identified compound heterozygosity for the R211H and R101W (<a href="#0002">608958.0002</a>) mutations. Functional expression studies showed that the mutant genes were transcribed into normal mRNA, but did not encode functional proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3182793+3475710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 5-year-old Japanese male patient with SCID due to ADA deficiency, <a href="#41" class="mim-tip-reference" title="Onodera, M., Ariga, T., Kawamura, N., Kobayashi, I., Ohtsu, M., Yamada, M., Tame, A., Furuta, H., Okano, M., Matsumoto, S., Kotani, H., McGarrity, G. J., Blaese, R. M., Sakiyama, Y. <strong>Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency.</strong> Blood 91: 30-36, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9414266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9414266</a>]" pmid="9414266">Onodera et al. (1998)</a> identified the R211H substitution caused by a 632G-A transition in the ADA gene. The patient had been receiving periodic infusions of genetically modified autologous T lymphocytes carrying the transduced ADA gene. ADA enzyme activity in the patient's circulating T cells, which was only marginally detected before gene transfer, increased to levels comparable to those of a heterozygote carrier and was associated with increased T-lymphocyte counts and improvement of the patient's immune function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9414266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs199422327 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199422327;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs199422327?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs199422327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs199422327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002035 OR RCV004752678 OR RCV004791193" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002035, RCV004752678, RCV004791193" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002035...</a>
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<p>In a patient with SCID due to ADA deficiency (<a href="/entry/102700">102700</a>) originally reported by <a href="#22" class="mim-tip-reference" title="Hirschhorn, R., Beratis, N., Rosen, F. S., Parkman, R., Stern, R., Polmar, S. <strong>Adenosine-deaminase deficiency in a child diagnosed prenatally.</strong> Lancet 305: 73-75, 1975. Note: Originally Volume 1.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/46025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">46025</a>] [<a href="https://doi.org/10.1016/s0140-6736(75)91075-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="46025">Hirschhorn et al. (1975)</a>, <a href="#55" class="mim-tip-reference" title="Valerio, D., Dekker, B. M. M., Duyvesteyn, M. G. C., van der Voorn, L., Berkvens, T. M., van Ormondt, H., van der Eb, A. J. <strong>One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.</strong> EMBO J. 5: 113-119, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3007108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3007108</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1986.tb04184.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3007108">Valerio et al. (1986)</a> identified compound heterozygosity for 2 mutations in the ADA gene: a T-to-G transversion in exon 10, resulting in a leu304-to-arg (L304R) substitution and K80R (<a href="#0001">608958.0001</a>). Functional expression studies showed that the L304R substitution resulted in ADA enzyme inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3007108+46025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908715 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908715;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908715?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002036 OR RCV000200442 OR RCV000373062 OR RCV001194143 OR RCV003944791" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002036, RCV000200442, RCV000373062, RCV001194143, RCV003944791" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002036...</a>
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<p>In a patient with SCID due to ADA deficiency (<a href="/entry/102700">102700</a>), <a href="#8" class="mim-tip-reference" title="Akeson, A. L., Wiginton, D. A., States, J. C., Perme, C. M., Dusing, M. R., Hutton, J. J. <strong>Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.</strong> Proc. Nat. Acad. Sci. 84: 5947-5951, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3475710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3475710</a>] [<a href="https://doi.org/10.1073/pnas.84.16.5947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3475710">Akeson et al. (1987)</a> identified compound heterozygosity for 2 mutations in the ADA gene: a 1081C-T transition in exon 11, resulting in an ala329-to-val (A329V) substitution, and R211H (<a href="#0004">608958.0004</a>). A second patient was compound heterozygous for A329V and a deletion of exon 4 (<a href="#0017">608958.0017</a>). Functional expression studies showed that the mutant genes were transcribed into normal mRNA but did not encode functional proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3475710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a SCID patient, <a href="#37" class="mim-tip-reference" title="Markert, M. L., Norby-Slycord, C., Ward, F. E. <strong>A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution.</strong> Am. J. Hum. Genet. 45: 354-361, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2773932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2773932</a>]" pmid="2773932">Markert et al. (1989)</a> identified the A329V mutation in exon 11 of the ADA gene. The authors found that 5 of 13 patients (7 of 22 alleles) had the same A329V mutation and that A329V was associated with 3 distinct ADA haplotypes. The findings did not support a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2773932" 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="#25" class="mim-tip-reference" title="Hirschhorn, R., Ellenbogen, A., Tzall, S. <strong>Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA-patients with severe combined immunodeficiency (ADA-SCID).</strong> Am. J. Med. Genet. 42: 201-207, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1346349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1346349</a>] [<a href="https://doi.org/10.1002/ajmg.1320420213" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1346349">Hirschhorn et al. (1992)</a> found that 5 missense mutations accounted for one-third of 45 ADA-negative chromosomes studied. The A329V mutation was the most frequent, being found in 4 persons heterozygous for the mutation and 1 person homozygous for the mutation (6/45 alleles). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1346349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002037" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002037" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002037</a>
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<p>In a Belgian female infant with SCID and ADA deficiency (<a href="/entry/102700">102700</a>), born of consanguineous parents, <a href="#13" class="mim-tip-reference" title="Berkvens, T. M., Gerritsen, E. J. A., Oldenburg, M., Breukel, C., Wijnen, J. T., van Ormondt, H., Vossen, J. M., van der Eb, A. J., Meera Khan, P. <strong>Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene.</strong> Nucleic Acids Res. 15: 9365-9378, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3684597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3684597</a>] [<a href="https://doi.org/10.1093/nar/15.22.9365" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3684597">Berkvens et al. (1987)</a> identified a homozygous 3.2-kb deletion spanning the promoter and the first exon of the ADA gene. No ADA-specific mRNA was detected in the patient's fibroblasts, indicating a null allele. Both parents and an unaffected brother were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3684597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Markert, M. L., Hutton, J. J., Wiginton, D. A., States, J. C., Kaufman, R. E. <strong>Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.</strong> J. Clin. Invest. 81: 1323-1327, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3366897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3366897</a>] [<a href="https://doi.org/10.1172/JCI113458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3366897">Markert et al. (1988)</a> identified a 3.3-kb deletion in the ADA gene in an American patient with ADA deficiency and SCID who had no lymphocyte ADA enzyme activity, no detectable ADA mRNA, and a deletion in the region of the first exon of the ADA gene. <a href="#36" class="mim-tip-reference" title="Markert, M. L., Hutton, J. J., Wiginton, D. A., States, J. C., Kaufman, R. E. <strong>Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.</strong> J. Clin. Invest. 81: 1323-1327, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3366897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3366897</a>] [<a href="https://doi.org/10.1172/JCI113458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3366897">Markert et al. (1988)</a> determined that the deletion of the ADA promoter and first exon resulted from homologous recombination between 2 repetitive DNA sequences of the Alu family. By direct sequencing, <a href="#14" class="mim-tip-reference" title="Berkvens, T. M., van Ormondt, H., Gerritsen, E. J. A., Meera Khan, P., van der Eb, A. J. <strong>Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients.</strong> Genomics 7: 486-490, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1696926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1696926</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90190-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1696926">Berkvens et al. (1990)</a> showed that the 3.25-kb deletion was due to recombination within the left arms of 2 direct AluI repeats. They noted that the mutation was identical to that in the unrelated patient reported by <a href="#36" class="mim-tip-reference" title="Markert, M. L., Hutton, J. J., Wiginton, D. A., States, J. C., Kaufman, R. E. <strong>Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.</strong> J. Clin. Invest. 81: 1323-1327, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3366897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3366897</a>] [<a href="https://doi.org/10.1172/JCI113458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3366897">Markert et al. (1988)</a>; however, neither the pedigree of the Belgian family nor a comparison of haplotype data suggested a relationship between the American and Belgian patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1696926+3366897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with SCID due to ADA deficiency, <a href="#33" class="mim-tip-reference" title="Jiang, C.-K., Hong, R., Horowitz, S. D., Kong, X.-P., Hirschhorn, R. <strong>An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.</strong> Hum. Molec. Genet. 6: 2271-2278, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9361033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9361033</a>] [<a href="https://doi.org/10.1093/hmg/6.13.2271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9361033">Jiang et al. (1997)</a> identified compound heterozygosity for the exon 1 deletion and 2 mutations on the same allele (<a href="#0029">608958.0029</a>). Three of 4 additional unrelated patients tested had the exon 1 deletion, suggesting that it is relatively common. The authors noted that the exon 1 deletion accounted for 10% of almost 100 chromosomes studied by several laboratories, but was easily missed by generally used methods of mutation detection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9361033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908718 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908718;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908718?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 unrelated patients with partial ADA deficiency (<a href="/entry/102700">102700</a>) who were immunocompetent, <a href="#26" class="mim-tip-reference" title="Hirschhorn, R., Tzall, S., Ellenbogen, A., Orkin, S. H. <strong>Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.</strong> J. Clin. Invest. 83: 497-501, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2783588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2783588</a>] [<a href="https://doi.org/10.1172/JCI113909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2783588">Hirschhorn et al. (1989)</a> identified a C-to-A transversion in exon 10 of the ADA gene, resulting in a pro297-to-gln (P297Q) substitution. One patient was homozygous for the mutation and the other was compound heterozygous. The P297Q mutation resulted in a heat-labile enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2783588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908736 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908736;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908736?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002039 OR RCV000059096 OR RCV000482569" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002039, RCV000059096, RCV000482569" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002039...</a>
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<p>In 3 patients with partial ADA deficiency who lacked ADA activity in erythrocytes but retained ADA activity in lymphocytes (<a href="/entry/102700">102700</a>), <a href="#27" class="mim-tip-reference" title="Hirschhorn, R., Tzall, S., Ellenbogen, A. <strong>Hot spot mutations in adenosine deaminase deficiency.</strong> Proc. Nat. Acad. Sci. 87: 6171-6175, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2166947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2166947</a>] [<a href="https://doi.org/10.1073/pnas.87.16.6171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2166947">Hirschhorn et al. (1990)</a> identified a 226C-T transition in exon 4 of the ADA gene, resulting in an arg76-to-trp (R76W) substitution. The R76W mutant allele resulted in an abnormally acidic protein with 16% normal activity in lymphoid cells. One patient was homozygous and the other 2 were compound heterozygous (see also <a href="#0012">608958.0012</a> and <a href="#0013">608958.0013</a>). All 3 patients were from the West Indies, and the authors postulated a selective advantage of carrying a mutant allele for partial ADA deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2166947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL</strong>
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ADA, ARG149GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908737 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908737;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908737?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002040 OR RCV000059104 OR RCV002307352" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002040, RCV000059104, RCV002307352" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002040...</a>
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<p>In a patient with partial ADA deficiency (<a href="/entry/102700">102700</a>), <a href="#27" class="mim-tip-reference" title="Hirschhorn, R., Tzall, S., Ellenbogen, A. <strong>Hot spot mutations in adenosine deaminase deficiency.</strong> Proc. Nat. Acad. Sci. 87: 6171-6175, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2166947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2166947</a>] [<a href="https://doi.org/10.1073/pnas.87.16.6171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2166947">Hirschhorn et al. (1990)</a> identified a 446G-A transition in the ADA gene, resulting in an arg149-to-gln (R149Q) substitution. The R149Q mutant allele resulted in a mildly acidic protein with 42% residual activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2166947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0012" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0012 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL</strong>
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ADA, PRO274LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908738 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908738;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908738?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002041 OR RCV000059114" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002041, RCV000059114" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002041...</a>
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<p>In a patient with partial ADA deficiency (<a href="/entry/102700">102700</a>), <a href="#27" class="mim-tip-reference" title="Hirschhorn, R., Tzall, S., Ellenbogen, A. <strong>Hot spot mutations in adenosine deaminase deficiency.</strong> Proc. Nat. Acad. Sci. 87: 6171-6175, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2166947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2166947</a>] [<a href="https://doi.org/10.1073/pnas.87.16.6171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2166947">Hirschhorn et al. (1990)</a> identified compound heterozygosity for 2 mutations in the ADA gene: an 821C-T transition in exon 9, resulting in a pro274-to-leu (P274L) substitution, and R76Y (<a href="#0010">608958.0010</a>). The P274L mutant allele resulted in an abnormally basic protein with 12% normal activity in lymphoid cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2166947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0013" class="mim-anchor"></a>
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<h4>
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<strong>.0013 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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ADA, LEU107PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908739 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908739;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908739?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002042 OR RCV000255602 OR RCV001731270" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002042, RCV000255602, RCV001731270" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002042...</a>
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<p>In 2 unrelated patients with SCID due to ADA deficiency (<a href="/entry/102700">102700</a>), <a href="#27" class="mim-tip-reference" title="Hirschhorn, R., Tzall, S., Ellenbogen, A. <strong>Hot spot mutations in adenosine deaminase deficiency.</strong> Proc. Nat. Acad. Sci. 87: 6171-6175, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2166947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2166947</a>] [<a href="https://doi.org/10.1073/pnas.87.16.6171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2166947">Hirschhorn et al. (1990)</a> identified a 320T-C transition in exon 4 of the ADA gene, resulting in a leu107-to-pro (L107P) substitution. Analysis of enzyme activity showed that the L107P mutation is a null allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2166947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0014" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0014 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL</strong>
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</span>
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</h4>
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ADA, ARG211CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908740 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908740;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908740?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002043 OR RCV000059111 OR RCV002298431" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002043, RCV000059111, RCV002298431" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002043...</a>
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</span>
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<span class="mim-text-font">
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<p>In a patient with partial ADA deficiency (see <a href="/entry/102700">102700</a>), <a href="#27" class="mim-tip-reference" title="Hirschhorn, R., Tzall, S., Ellenbogen, A. <strong>Hot spot mutations in adenosine deaminase deficiency.</strong> Proc. Nat. Acad. Sci. 87: 6171-6175, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2166947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2166947</a>] [<a href="https://doi.org/10.1073/pnas.87.16.6171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2166947">Hirschhorn et al. (1990)</a> identified compound heterozygosity for 2 mutations in the ADA gene: a 631C-T transition, resulting in an arg211-to-cys (R211C) substitution, and L107P (<a href="#0013">608958.0013</a>). The R211C mutant allele resulted in an abnormally acidic protein with 8% normal activity in lymphoid cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2166947" 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 sisters with adult-onset ADA deficiency, <a href="#49" class="mim-tip-reference" title="Shovlin, C. L., Simmonds, H. A., Fairbanks, L. D., Deacock, S. J., Hughes, J. M. B., Lechler, R. I., Webster, A. D. B., Sun, X.-M., Webb, J. C., Soutar, A. K. <strong>Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency.</strong> J. Immun. 153: 2331-2339, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8051429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8051429</a>]" pmid="8051429">Shovlin et al. (1994)</a> identified compound heterozygosity for 2 mutations in the ADA gene. The paternal allele contained a deletion resulting from homologous recombination between 2 Alu elements, predicting a null phenotype. The maternal allele had a C-to-T transition in a CpG dinucleotide that changed the codon for arginine-211, which lies in a conserved sequence close to the active site, to cysteine. This mutation had previously been observed in a child thought to have partial ADA deficiency by <a href="#27" class="mim-tip-reference" title="Hirschhorn, R., Tzall, S., Ellenbogen, A. <strong>Hot spot mutations in adenosine deaminase deficiency.</strong> Proc. Nat. Acad. Sci. 87: 6171-6175, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2166947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2166947</a>] [<a href="https://doi.org/10.1073/pnas.87.16.6171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2166947">Hirschhorn et al. (1990)</a> (<a href="#0013">608958.0013</a>). <a href="#49" class="mim-tip-reference" title="Shovlin, C. L., Simmonds, H. A., Fairbanks, L. D., Deacock, S. J., Hughes, J. M. B., Lechler, R. I., Webster, A. D. B., Sun, X.-M., Webb, J. C., Soutar, A. K. <strong>Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency.</strong> J. Immun. 153: 2331-2339, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8051429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8051429</a>]" pmid="8051429">Shovlin et al. (1994)</a> suggested that immune function in children with partial ADA deficiency may deteriorate with time. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8051429+2166947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0015 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs114025668 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs114025668;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs114025668?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs114025668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs114025668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002044 OR RCV000059112 OR RCV001280563" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002044, RCV000059112, RCV001280563" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002044...</a>
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<p>In a patient with partial ADA deficiency (see <a href="/entry/102700">102700</a>), <a href="#27" class="mim-tip-reference" title="Hirschhorn, R., Tzall, S., Ellenbogen, A. <strong>Hot spot mutations in adenosine deaminase deficiency.</strong> Proc. Nat. Acad. Sci. 87: 6171-6175, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2166947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2166947</a>] [<a href="https://doi.org/10.1073/pnas.87.16.6171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2166947">Hirschhorn et al. (1990)</a> identified a homozygous 643G-A transition in exon 7 of the ADA gene, resulting in an ala215-to-thr (A215T) substitution. The A215T mutant allele resulted in an abnormally basic protein with 8% residual activity in lymphoid cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2166947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0016 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908723 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908723;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908723?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002045 OR RCV000256171 OR RCV003904795" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002045, RCV000256171, RCV003904795" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002045...</a>
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<p>In a patient with SCID due to ADA deficiency (<a href="/entry/102700">102700</a>), <a href="#24" class="mim-tip-reference" title="Hirschhorn, R., Chakravarti, V., Puck, J., Douglas, S. D. <strong>Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).</strong> Am. J. Hum. Genet. 49: 878-885, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1680289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1680289</a>]" pmid="1680289">Hirschhorn et al. (1991)</a> identified a homozygous 646G-A transition in exon 7 of the ADA gene, resulting in a gly216-to-arg (G216R) substitution. The patient was the offspring of consanguineous Amish parents from eastern Pennsylvania. Computer analysis of secondary structure predicted a major alteration with loss of a beta-pleated sheet in a highly conserved region of the protein. Onset of symptoms was at 3 days of age with respiratory distress from pneumonia unresponsive to antibiotics. Of 9 patients, this one had the highest concentration of the toxic metabolite deoxy-ATP and a relatively poor immunologic response during the initial 2 years of therapy with polyethylene glycol-adenosine deaminase. Heterozygosity for the same mutation was found in 2 of 21 additional patients with ADA-SCID. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1680289" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0017 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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ADA, IVS3AS, A-G, -2, EX4DEL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906267 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906267;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906267" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906267" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002046" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002046" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002046</a>
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<p>In a patient with SCID due to ADA deficiency (<a href="/entry/102700">102700</a>), <a href="#8" class="mim-tip-reference" title="Akeson, A. L., Wiginton, D. A., States, J. C., Perme, C. M., Dusing, M. R., Hutton, J. J. <strong>Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.</strong> Proc. Nat. Acad. Sci. 84: 5947-5951, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3475710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3475710</a>] [<a href="https://doi.org/10.1073/pnas.84.16.5947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3475710">Akeson et al. (1987)</a> identified compound heterozygosity for 2 mutations in the ADA gene: a deletion of exon 4 and A329V (<a href="#0006">608958.0006</a>). <a href="#6" class="mim-tip-reference" title="Akeson, A. L., Wiginton, D. A., Dusing, M. R., States, J. C., Hutton, J. J. <strong>Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.</strong> J. Biol. Chem. 263: 16291-16296, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3182793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3182793</a>]" pmid="3182793">Akeson et al. (1988)</a> found that the exon 4 deletion was caused by an A-to-G transition in the 3-prime splice site of intron 3. Functional expression studies showed that the mutant gene was transcribed into normal mRNA but did not encode a functional protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3182793+3475710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0018" class="mim-anchor"></a>
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<strong>.0018 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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ADA, ARG156CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908735 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908735;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908735?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002047 OR RCV000780816 OR RCV001588796" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002047, RCV000780816, RCV001588796" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002047...</a>
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<p>In a patient with SCID due to ADA deficiency (<a href="/entry/102700">102700</a>) who was unusual for responding to the limited form of enzyme therapy provided by repeated partial exchange transfusions (<a href="#44" class="mim-tip-reference" title="Polmar, S. H., Stern, R. C., Schwartz, A. L., Wetzler, E. M., Chase, P. A., Hirschhorn, R. <strong>Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency.</strong> New Eng. J. Med. 295: 1337-1343, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/980079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">980079</a>] [<a href="https://doi.org/10.1056/NEJM197612092952402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="980079">Polmar et al., 1976</a>; <a href="#21" class="mim-tip-reference" title="Dyminski, J. W., Daoud, A., Lampkin, B. C., Limouze, S., Donofrio, J., Coleman, M. S., Hutton, J. J. <strong>Immunological and biochemical profiles in response to transfusion therapy in adenosine deaminase-deficient patient with severe combined immunodeficiency disease.</strong> Clin. Immun. Immunopath. 14: 307-326, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/498598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">498598</a>] [<a href="https://doi.org/10.1016/0090-1229(79)90157-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="498598">Dyminski et al., 1979</a>), <a href="#31" class="mim-tip-reference" title="Hirschhorn, R. <strong>Identification of two new missense mutations (R156C and S291L) in two ADA(-) SCID patients unusual for response to therapy with partial exchange transfusions.</strong> Hum. Mutat. 1: 166-168, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1284479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1284479</a>] [<a href="https://doi.org/10.1002/humu.1380010214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1284479">Hirschhorn (1992)</a> identified compound heterozygosity for 2 mutations in the ADA gene: a 466C-T transition, resulting in an arg156-to-cys (R156C) substitution and L304R (<a href="#0005">608958.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=980079+1284479+498598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0019 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908721 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908721;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908721?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002048 OR RCV000788574 OR RCV004766976" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002048, RCV000788574, RCV004766976" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002048...</a>
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<p>In a patient with SCID due to ADA deficiency (<a href="/entry/102700">102700</a>) who was unusual for responding to the limited form of enzyme therapy provided by repeated partial exchange transfusions (<a href="#44" class="mim-tip-reference" title="Polmar, S. H., Stern, R. C., Schwartz, A. L., Wetzler, E. M., Chase, P. A., Hirschhorn, R. <strong>Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency.</strong> New Eng. J. Med. 295: 1337-1343, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/980079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">980079</a>] [<a href="https://doi.org/10.1056/NEJM197612092952402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="980079">Polmar et al., 1976</a>; <a href="#21" class="mim-tip-reference" title="Dyminski, J. W., Daoud, A., Lampkin, B. C., Limouze, S., Donofrio, J., Coleman, M. S., Hutton, J. J. <strong>Immunological and biochemical profiles in response to transfusion therapy in adenosine deaminase-deficient patient with severe combined immunodeficiency disease.</strong> Clin. Immun. Immunopath. 14: 307-326, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/498598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">498598</a>] [<a href="https://doi.org/10.1016/0090-1229(79)90157-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="498598">Dyminski et al., 1979</a>), <a href="#31" class="mim-tip-reference" title="Hirschhorn, R. <strong>Identification of two new missense mutations (R156C and S291L) in two ADA(-) SCID patients unusual for response to therapy with partial exchange transfusions.</strong> Hum. Mutat. 1: 166-168, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1284479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1284479</a>] [<a href="https://doi.org/10.1002/humu.1380010214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1284479">Hirschhorn (1992)</a> identified compound heterozygosity for 2 mutations in the ADA gene: an 872C-T transition in exon 10, resulting in a ser291-to-leu (S291L) substitution and A329V (<a href="#0006">608958.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=980079+1284479+498598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0020 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, LATE-ONSET</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1194494050 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1194494050;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1194494050?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1194494050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1194494050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002049 OR RCV003466782" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002049, RCV003466782" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002049...</a>
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<p>In a patient with late-onset SCID due to ADA deficiency (<a href="/entry/102700">102700</a>), in whom the diagnosis of ADA deficiency was first made at the age of 15 years, <a href="#48" class="mim-tip-reference" title="Santisteban, I., Arredondo-Vega, F. X., Kelly, S., Mary, A., Fischer, A., Hummell, D. S., Lawton, A., Sorensen, R. U., Stiehm, E. R., Uribe, L., Weinberg, K., Hershfield, M. S. <strong>Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease: contribution of genotype to phenotype.</strong> J. Clin. Invest. 92: 2291-2302, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8227344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8227344</a>] [<a href="https://doi.org/10.1172/JCI116833" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8227344">Santisteban et al. (1993)</a> identified a homozygous -34G-A transition in intron 10 of the ADA gene, converting a GG dinucleotide to AG, resulting in a new splice acceptor site with all the cis-acting elements of a functional 3-prime splice junction. Besides introducing 9 new codons after leu325, use of the cryptic splice site shifted the reading frame to include 268 bp of the normal 3-prime noncoding region before a new TGA stop codon was generated 16 bp from the poly(A) addition signal. The mutant protein was predicted to consist of 463 residues, compared to the normal 363 residues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8227344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0021 ADENOSINE DEAMINASE 2 ALLOZYME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs73598374 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs73598374;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs73598374?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs73598374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs73598374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002050 OR RCV000351193 OR RCV000508187 OR RCV001668121" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002050, RCV000351193, RCV000508187, RCV001668121" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002050...</a>
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<p><a href="#29" class="mim-tip-reference" title="Hirschhorn, R., Yang, D. R., Israni, A. <strong>An asp8-to-asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover.</strong> Ann. Hum. Genet. 58: 1-9, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8031011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8031011</a>]" pmid="8031011">Hirschhorn et al. (1994)</a> determined that the common electrophoretic variant of ADA, the ADA2 allozyme (ADA*2), is caused by a 22G-A transition in the ADA gene, resulting in an asp8-to-asn (D8N) substitution. The ADA2 allozyme is a more basic electrophoretic variant that is codominantly inherited with the usual ADA1 allozyme. Functional expression studies of the D8N protein confirmed expression of an enzyme that comigrated with a naturally occurring ADA2 allozyme. <a href="#29" class="mim-tip-reference" title="Hirschhorn, R., Yang, D. R., Israni, A. <strong>An asp8-to-asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover.</strong> Ann. Hum. Genet. 58: 1-9, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8031011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8031011</a>]" pmid="8031011">Hirschhorn et al. (1994)</a> noted that the ADA2 allozyme has been found in all populations studied and results in only minimally reduced enzyme activity in erythrocytes. The gene frequency of the ADA2 allozyme is estimated as 0.06 in Western populations, lower among individuals of African descent, and higher in Southeast Asian populations. The ADA2 allele was also found on at least 2 different genetic backgrounds, 1 of Ashkenazi Jewish ancestry and 1 in a large Mormon pedigree from Utah, suggesting independent recurrence of the mutation. Consistent with independent recurrence, the G-to-A transition was located in a CpG dinucleotide of the type subject to a high frequency of mutation. <a href="#29" class="mim-tip-reference" title="Hirschhorn, R., Yang, D. R., Israni, A. <strong>An asp8-to-asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover.</strong> Ann. Hum. Genet. 58: 1-9, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8031011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8031011</a>]" pmid="8031011">Hirschhorn et al. (1994)</a> also found a probable intragenic crossover in the very large first intron that is rich in repetitive DNA sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8031011" 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 Italian groups of autistic children, <a href="#19" class="mim-tip-reference" title="Bottini, N., De Luca, D., Saccucci, P., Fiumara, A., Elia, M., Porfirio, M. C., Lucarelli, P., Curatolo, P. <strong>Autism: evidence of association with adenosine deaminase genetic polymorphism.</strong> Neurogenetics 3: 111-113, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11354825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11354825</a>] [<a href="https://doi.org/10.1007/s100480000104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11354825">Bottini et al. (2001)</a> found a significantly higher frequency of the low-activity ADA2 allele than in controls. They suggested that this genotype-dependent reduction in ADA activity may be a risk factor for the development of autism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11354825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0022 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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ADA, IVS2DS, G-A, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs778343059 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs778343059;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs778343059?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs778343059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs778343059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000670969 OR RCV001731875" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000670969, RCV001731875" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000670969...</a>
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<p>In 2 sisters with SCID due to ADA deficiency (<a href="/entry/102700">102700</a>) reported by <a href="#54" class="mim-tip-reference" title="Umetsu, D. T., Schlossman, C. M., Ochs, H. D., Hershfield, M. S. <strong>Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency.</strong> J. Allergy Clin. Immun. 93: 543-550, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8120281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8120281</a>] [<a href="https://doi.org/10.1016/0091-6749(94)90365-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8120281">Umetsu et al. (1994)</a>, <a href="#10" class="mim-tip-reference" title="Arredondo-Vega, F. X., Santisteban, I., Kelly, S., Schlossman, C. M., Umetsu, D. T., Hershfield, M. S. <strong>Correct splicing despite mutation of the invariant first nucleotide of a 5-prime splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.</strong> Am. J. Hum. Genet. 54: 820-830, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8178821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8178821</a>]" pmid="8178821">Arredondo-Vega et al. (1994)</a> identified compound heterozygosity for 2 splice site mutations in the ADA gene: a G-to-A transition at the +1 position of the 5-prime splice site of IVS2, and a complex 17-bp rearrangement of the 3-prime splice site of IVS8, resulting in a 7-purine insertion into the polypyrimidine tract and alteration of the reading frame of exon 9 (<a href="#0023">608958.0023</a>). The sisters showed a disparity in clinical phenotype, with residual ADA activity in cultured T cells, fibroblasts, and B lymphoblasts of one, but no detectable activity in the cells of the other. ADA mRNA was undetectable by Northern blot analysis in the cells of both patients. PCR-amplified ADA cDNA mutant clones showed premature translation stop codons, consistent with these mutations. However, some cDNA clones from T cells of both patients and from fibroblasts and EBV-transformed B cells of the first patient were normally spliced at both the exon 2/3 and 8/9 junctions. A normal coding sequence was documented for clones from both sibs. <a href="#10" class="mim-tip-reference" title="Arredondo-Vega, F. X., Santisteban, I., Kelly, S., Schlossman, C. M., Umetsu, D. T., Hershfield, M. S. <strong>Correct splicing despite mutation of the invariant first nucleotide of a 5-prime splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.</strong> Am. J. Hum. Genet. 54: 820-830, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8178821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8178821</a>]" pmid="8178821">Arredondo-Vega et al. (1994)</a> suggested that a low level of normal pre-mRNA splicing may occur despite mutation of the invariant first nucleotide of the 5-prime splice donor sequence, and that differences in efficiency of such splicing may account for the difference in residual ADA activity, immune dysfunction, and clinical severity in the 2 sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8120281+8178821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0023 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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ADA, IVS8AS, 7-BP INS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2123516908 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2123516908;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2123516908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2123516908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002052" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002052" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002052</a>
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<p>For discussion of the complex 17-bp rearrangement of the 3-prime splice site of IVS8 in the ADA gene, resulting in a 7-purine insertion into the polypyrimidine tract and alteration of the reading frame of exon 9, that was identified in compound heterozygous state in sibs with SCID due to adenosine deaminase deficiency (<a href="/entry/102700">102700</a>) by <a href="#10" class="mim-tip-reference" title="Arredondo-Vega, F. X., Santisteban, I., Kelly, S., Schlossman, C. M., Umetsu, D. T., Hershfield, M. S. <strong>Correct splicing despite mutation of the invariant first nucleotide of a 5-prime splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.</strong> Am. J. Hum. Genet. 54: 820-830, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8178821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8178821</a>]" pmid="8178821">Arredondo-Vega et al. (1994)</a>, see <a href="#0022">608958.0022</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8178821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0024 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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ADA, IVS1DS, G-C, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776534 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776534;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776534" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776534" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002053" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002053" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002053</a>
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<p>In a 2.5-year-old patient with SCID due to ADA deficiency (<a href="/entry/102700">102700</a>), <a href="#29" class="mim-tip-reference" title="Hirschhorn, R., Yang, D. R., Israni, A. <strong>An asp8-to-asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover.</strong> Ann. Hum. Genet. 58: 1-9, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8031011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8031011</a>]" pmid="8031011">Hirschhorn et al. (1994)</a> identified compound heterozygosity for 2 mutations in the ADA gene: a +1G-C transversion at the donor splice site in IVS1, and R101Q (<a href="#0003">608958.0003</a>). The patient's disease course improved, and he was healthy by age 16 years. Cell lines established at age 16 showed 50% of normal ADA activity; 50% of ADA mRNA had normal sequence, and 50% had the R101Q mutation. Genomic DNA contained the missense mutation but not the splice site mutation. The authors postulated somatic mutation or reversion at the site of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8031011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0025 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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ADA, GLY74VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs199422328 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199422328;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs199422328?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs199422328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs199422328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002054" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002054" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002054</a>
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<p>In a newborn with hepatic dysfunction as a complication of SCID due to ADA deficiency (<a href="/entry/102700">102700</a>), <a href="#17" class="mim-tip-reference" title="Bollinger, M. E., Arredondo-Vega, F. X., Santisteban, I., Schwarz, K., Hershfield, M. S., Lederman, H. M. <strong>Hepatic dysfunction as a complication of adenosine deaminase deficiency.</strong> New Eng. J. Med. 334: 1367-1371, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8614422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8614422</a>] [<a href="https://doi.org/10.1056/NEJM199605233342104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8614422">Bollinger et al. (1996)</a> identified compound heterozygosity for 2 mutations in the ADA gene: a G-to-T transversion, resulting in a gly74-to-val (G74V) substitution, and A329V (<a href="#0006">608958.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8614422" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0026" class="mim-anchor"></a>
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<strong>.0026 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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ADA, IVS5DS, G-A, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs761242509 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs761242509;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs761242509?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs761242509" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs761242509" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002055 OR RCV000254941 OR RCV001731467" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002055, RCV000254941, RCV001731467" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002055...</a>
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<p>In a patient with a mild form of SCID due to ADA deficiency (<a href="/entry/102700">102700</a>), <a href="#30" class="mim-tip-reference" title="Hirschhorn, R., Yang, D. R., Puck, J. M., Huie, M. L., Jiang, C.-K., Kurlandsky, L. E. <strong>Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.</strong> Nature Genet. 13: 290-295, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673127</a>] [<a href="https://doi.org/10.1038/ng0796-290" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8673127">Hirschhorn et al. (1996)</a> identified compound heterozygosity for 2 mutations in the ADA gene: a G-to-A transition in intron 5, resulting in deletion of exon 5, and R156H (<a href="#0032">608958.0032</a>). The splice site mutation was inherited from the father and the R156H mutation was inherited from the mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8673127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0027" class="mim-anchor"></a>
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<strong>.0027 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL</strong>
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ADA, LEU152MET
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908728 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908728;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908728?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002056 OR RCV000059105 OR RCV001531958 OR RCV001731271" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002056, RCV000059105, RCV001531958, RCV001731271" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002056...</a>
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<p>In an Afghan boy with partial ADA deficiency (see <a href="/entry/102700">102700</a>) identified through newborn screening in New York State, <a href="#23" class="mim-tip-reference" title="Hirschhorn, R., Borkowsky, W., Jiang, C.-K., Yang, D. R., Jenkins, T. <strong>Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.</strong> Hum. Genet. 100: 22-29, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9225964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9225964</a>] [<a href="https://doi.org/10.1007/s004390050460" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9225964">Hirschhorn et al. (1997)</a> identified a homozygous 454C-A transversion of the ADA gene resulting in a leu152-to-met (L152M) substitution. The child was born of consanguineous parents. Functional expression studies showed that the L152M mutation had considerably less enzymatic activity than the pathogenic R211C (<a href="#0014">608958.0014</a>) mutation. The child had the highest level of the accumulated metabolite dATP among the 13 partially ADA-deficient patients studied, but considerably less dATP than those with immunodeficiency. The authors concluded that the L152M mutation could result in disease in homozygous individuals challenged by severe environmental insult, or in heterozygous individuals when combined with a null mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9225964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0028 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908729 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908729;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002057 OR RCV000059113" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002057, RCV000059113" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002057...</a>
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<p>In a healthy adult male of Afghan Kung descent with partial ADA deficiency (see <a href="/entry/102700">102700</a>), <a href="#23" class="mim-tip-reference" title="Hirschhorn, R., Borkowsky, W., Jiang, C.-K., Yang, D. R., Jenkins, T. <strong>Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.</strong> Hum. Genet. 100: 22-29, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9225964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9225964</a>] [<a href="https://doi.org/10.1007/s004390050460" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9225964">Hirschhorn et al. (1997)</a> identified a homozygous 698C-T transition in the ADA gene, resulting in a thr233-to-ile (T233I) substitution. Functional expression studies showed that the T233I mutation had 16 to 20% normal enzyme activity, which was slightly greater than the pathogenic R211C (<a href="#0014">608958.0014</a>) mutation. Immunologic studies done previously on the patient indicated an unstable ADA enzyme that was absent in red blood cells but present in sufficient amounts in other cell types to prevent accumulation of toxic metabolites and resulting immunodeficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9225964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0029" class="mim-anchor"></a>
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<strong>.0029 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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ADA, TYR97CYS AND LEU106VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267606634 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606634;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs267606634?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267606634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267606634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606635 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606635;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267606635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267606635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001796713" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001796713" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001796713</a>
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<p>In a patient with SCID due to ADA deficiency (<a href="/entry/102700">102700</a>), <a href="#33" class="mim-tip-reference" title="Jiang, C.-K., Hong, R., Horowitz, S. D., Kong, X.-P., Hirschhorn, R. <strong>An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.</strong> Hum. Molec. Genet. 6: 2271-2278, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9361033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9361033</a>] [<a href="https://doi.org/10.1093/hmg/6.13.2271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9361033">Jiang et al. (1997)</a> identified compound heterozygosity for 2 mutant ADA alleles. One allele, inherited from the mother, contained 2 mutations in exon 4: a 290A-G transition, resulting in a tyr97-to-cys (Y97C) substitution, and a 316C-G transversion, resulting in a leu106-to-val (L106V) substitution. The second allele, inherited from the father, was a deletion (<a href="#0008">608958.0008</a>). The patient was diagnosed prenatally in a family with an affected child previously reported by <a href="#38" class="mim-tip-reference" title="Moen, R. C., Horowitz, S. D., Sondel, P. M., Borcherding, W. R., Trigg, M. E., Billing, R., Hong, R. <strong>Immunologic reconstitution after haploidentical bone marrow transplantation for immune deficiency disorders: treatment of bone marrow cells with monoclonal antibody CT-2 and complement.</strong> Blood 70: 664-669, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3304460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3304460</a>]" pmid="3304460">Moen et al. (1987)</a>, and the diagnosis was confirmed after birth by demonstration of less than 1% ADA activity in red blood cells and mononuclear cells. Functional expression studies showed that the L106V mutation resulted in 30% of normal activity, similar to that of partial mutations, and the Y97C mutation resulted in 1.5% of normal activity. The presence of both mutations on the same allele virtually abolished detectable enzyme activity to less than 0.01%. Crystallographic structure analysis showed that the L106V mutation surrounds the opening of the active site and is predicted to reduce the stability of substrate binding. The Y97C mutation resides within the active site and interacts with salt ridges that play a role in the catalytic mechanism of ADA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3304460+9361033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0030" class="mim-anchor"></a>
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<strong>.0030 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, DELAYED ONSET</strong>
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ADA, IVS11AS, 31701T-A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906268 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906268;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906268" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906268" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002059 OR RCV000002060 OR RCV003987306" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002059, RCV000002060, RCV003987306" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002059...</a>
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<p>In 4 patients from 3 Saudi Arabian families with delayed onset of immune deficiency (<a href="/entry/102700">102700</a>), <a href="#11" class="mim-tip-reference" title="Arredondo-Vega, F. X., Santisteban, I., Richard, E., Bali, P., Koleilat, M., Loubser, M., Al-Ghonaium, A., Al-Helali, M., Hershfield, M. S. <strong>Adenosine deaminase deficiency with mosaicism for a 'second-site suppressor' of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy.</strong> Blood 99: 1005-1013, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11807006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11807006</a>] [<a href="https://doi.org/10.1182/blood.v99.3.1005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11807006">Arredondo-Vega et al. (2002)</a> identified homozygosity for a 31701T-A transversion in the last splice acceptor site of the ADA gene. By converting TG to AG, this mutation activated a cryptic splice site, inserting the last 13 nucleotides of intron 11 into ADA mRNA, which resulted in addition of a 43-residue C-terminal tail that rendered the protein unstable. When mutant cDNA from 3 patients was expressed in E. coli, only 1% of the ADA activity obtained with wildtype cDNA was yielded. The oldest patient, 16 years old at diagnosis, had greater residual immune function and less elevated erythrocyte deoxyadenosine nucleotides than his 4-year-old affected sister. In addition to being homozygous for the intron 11 mutation, he also carried a deletion of 11 adjacent downstream nucleotides (<a href="#0031">608958.0031</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11807006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0031" class="mim-anchor"></a>
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<strong>.0031 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, LATE-ONSET</strong>
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ADA, IVS11AS, 31701T-A AND 11-BP DEL, NT31702
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2123505581 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2123505581;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2123505581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2123505581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002059 OR RCV000002060 OR RCV003987306" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002059, RCV000002060, RCV003987306" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002059...</a>
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<p>In a patient with late-onset of SCID due to ADA deficiency (<a href="/entry/102700">102700</a>) who was diagnosed at age 16 years, <a href="#11" class="mim-tip-reference" title="Arredondo-Vega, F. X., Santisteban, I., Richard, E., Bali, P., Koleilat, M., Loubser, M., Al-Ghonaium, A., Al-Helali, M., Hershfield, M. S. <strong>Adenosine deaminase deficiency with mosaicism for a 'second-site suppressor' of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy.</strong> Blood 99: 1005-1013, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11807006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11807006</a>] [<a href="https://doi.org/10.1182/blood.v99.3.1005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11807006">Arredondo-Vega et al. (2002)</a> identified the homozygous intron 11 mutation (<a href="#0030">608958.0030</a>) and an 11-bp deletion of adjacent basepairs 31702-31712, which suppressed aberrant splicing and excised an unusual purine-rich tract from the wildtype intron 11/exon 12 junction. Despite serious sequelae of early infections, this patient had apparently stabilized at some time during childhood. His T cells and Epstein-Barr virus (EBV) B-cell line had 75% of normal ADA activity and ADA protein of normal size. The authors noted that the mild atypical features of this patient were caused by an unusual form of somatic reversion: second-site suppression of a cryptic splice site. However, after several months of PEG-ADA treatment, the patient had lower ADA activity than before treatment, and the authors suggested that therapy allowed the ADA-deficient lymphoid cells to survive and proliferate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11807006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0032 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, LATE ONSET</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908722 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908722;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908722?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908722" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908722" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002061 OR RCV000059106 OR RCV001731272" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002061, RCV000059106, RCV001731272" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002061...</a>
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<p>In 3 patients with delayed or late onset of SCID due to ADA deficiency (<a href="/entry/102700">102700</a>), <a href="#48" class="mim-tip-reference" title="Santisteban, I., Arredondo-Vega, F. X., Kelly, S., Mary, A., Fischer, A., Hummell, D. S., Lawton, A., Sorensen, R. U., Stiehm, E. R., Uribe, L., Weinberg, K., Hershfield, M. S. <strong>Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease: contribution of genotype to phenotype.</strong> J. Clin. Invest. 92: 2291-2302, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8227344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8227344</a>] [<a href="https://doi.org/10.1172/JCI116833" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8227344">Santisteban et al. (1993)</a> identified a heterozygous 467G-A transition in exon 5 of the ADA gene at a CpG hotspot, resulting in an arg156-to-his (R156H) substitution. All 3 patients were compound heterozygous for R156H and a mutation predicted to result in an inactive enzyme; 1 patient also carried the G216R (<a href="#0016">608958.0016</a>) mutation. Functional expression studies showed that the R156H mutant enzyme retained 1.5 to 2% residual activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8227344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with a mild form of SCID due to ADA deficiency, <a href="#30" class="mim-tip-reference" title="Hirschhorn, R., Yang, D. R., Puck, J. M., Huie, M. L., Jiang, C.-K., Kurlandsky, L. E. <strong>Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.</strong> Nature Genet. 13: 290-295, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673127</a>] [<a href="https://doi.org/10.1038/ng0796-290" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8673127">Hirschhorn et al. (1996)</a> identified compound heterozygosity for the R156H mutation, inherited from the mother, and a splice site mutation (<a href="#0026">608958.0026</a>) inherited from the father. The patient showed clinical improvement without therapy, and analysis at the age of 11 years revealed that the R156H mutation had undergone in vivo reversion to normal in lymphoid cell lines and in a subset of peripheral blood cells. The authors concluded that the somatic mosaicism caused the relatively mild phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8673127" 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="#Abbott1986" class="mim-tip-reference" title="Abbott, C. M., Skidmore, C. J., Searle, A. G., Peters, J. <strong>Deficiency of adenosine deaminase in the wasted mouse.</strong> Proc. Nat. Acad. Sci. 83: 693-695, 1986.">Abbott et al. (1986)</a>; <a href="#Adrian1984" class="mim-tip-reference" title="Adrian, G. S., Wiginton, D. A., Hutton, J. J. <strong>Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines.</strong> Molec. Cell. Biol. 4: 1712-1717, 1984.">Adrian et al. (1984)</a>; <a href="#Aitken1978" class="mim-tip-reference" title="Aitken, D. A., Ferguson-Smith, M. A. <strong>Investigation of the intrachromosomal position of the ADA locus on chromosome 20 by gene dosage studies.</strong> Cytogenet. Cell Genet. 22: 514-517, 1978.">Aitken and Ferguson-Smith
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(1978)</a>; <a href="#Akeson1989" class="mim-tip-reference" title="Akeson, A. L., Wiginton, D. A., Hutton, J. J. <strong>Normal and mutant human adenosine deaminase genes.</strong> J. Cell. Biochem. 39: 217-228, 1989.">Akeson et al. (1989)</a>; <a href="#Blackburn1998" class="mim-tip-reference" title="Blackburn, M. R., Datta, S. K., Kellems, R. E. <strong>Adenosine deaminase-deficient mice generated using a two-stage genetic engineering strategy exhibit a combined immunodeficiency.</strong> J. Biol. Chem. 273: 5093-5100, 1998.">Blackburn et al. (1998)</a>; <a href="#Markert1987" class="mim-tip-reference" title="Markert, M. L., Hershfield, M. S., Wiginton, D. A., States, J. C., Ward, F. E., Bigner, S. H., Buckley, R. H., Kaufman, R. E., Hutton, J. J. <strong>Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency.</strong> J. Immun. 138: 3203-3206, 1987.">Markert et al.
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(1987)</a>; <a href="#Orkin1983" class="mim-tip-reference" title="Orkin, S. H., Daddona, P. E., Shewach, D. S., Markham, A. F., Bruns, G. A., Goff, S. C., Kelley, W. N. <strong>Molecular cloning of human adenosine deaminase gene sequences.</strong> J. Biol. Chem. 258: 12753-12756, 1983.">Orkin et al. (1983)</a>; <a href="#Tariverdian1969" class="mim-tip-reference" title="Tariverdian, G., Ritter, H. <strong>Adenosine deaminase polymorphism (EC 3.5.4.4): formal genetics and linkage relations.</strong> Humangenetik 7: 176-178, 1969.">Tariverdian and Ritter (1969)</a>; <a href="#Valerio1984" class="mim-tip-reference" title="Valerio, D., McIvor, R. S., Williams, S. R., Duyvesteyn, M. G. C., van Ormondt, H., van der Eb, A. J., Martin, D. W., Jr. <strong>Cloning of human adenosine deaminase cDNA and expression in mouse cells.</strong> Gene 31: 147-153, 1984.">Valerio
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et al. (1984)</a>; <a href="#Wiginton1984" class="mim-tip-reference" title="Wiginton, D. A., Adrian, G. S., Hutton, J. J. <strong>Sequence of human adenosine deaminase cDNA including the coding region and a small intron.</strong> Nucleic Acids Res. 12: 2439-2446, 1984.">Wiginton et al. (1984)</a>
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Abbott, C. M., Skidmore, C. J., Searle, A. G., Peters, J.
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<strong>Deficiency of adenosine deaminase in the wasted mouse.</strong>
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Proc. Nat. Acad. Sci. 83: 693-695, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3456164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3456164</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3456164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Adrian, G. S., Hutton, J. J.
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<strong>Adenosine deaminase messenger RNAs in lymphoblast cell lines derived from leukemic patients and patients with hereditary adenosine deaminase deficiency.</strong>
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J. Clin. Invest. 71: 1649-1660, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6134754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6134754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6134754" 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/jci110920" target="_blank">Full Text</a>]
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Adrian, G. S., Wiginton, D. A., Hutton, J. J.
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<strong>Characterization of normal and mutant adenosine deaminase messenger RNAs by translation and hybridization to a cDNA probe.</strong>
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Hum. Genet. 68: 169-172, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6548726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6548726</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6548726" 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/BF00279309" target="_blank">Full Text</a>]
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Adrian, G. S., Wiginton, D. A., Hutton, J. J.
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<strong>Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines.</strong>
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Molec. Cell. Biol. 4: 1712-1717, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6208479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6208479</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6208479" 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/10.1128/mcb.4.9.1712-1717.1984" target="_blank">Full Text</a>]
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Aitken, D. A., Ferguson-Smith, M. A.
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<strong>Investigation of the intrachromosomal position of the ADA locus on chromosome 20 by gene dosage studies.</strong>
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Cytogenet. Cell Genet. 22: 514-517, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/752533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">752533</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=752533" 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/10.1159/000131012" target="_blank">Full Text</a>]
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Akeson, A. L., Wiginton, D. A., Dusing, M. R., States, J. C., Hutton, J. J.
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<strong>Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.</strong>
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J. Biol. Chem. 263: 16291-16296, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3182793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3182793</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3182793" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Akeson, A. L., Wiginton, D. A., Hutton, J. J.
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<strong>Normal and mutant human adenosine deaminase genes.</strong>
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J. Cell. Biochem. 39: 217-228, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2651461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2651461</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2651461" 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/10.1002/jcb.240390302" target="_blank">Full Text</a>]
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Akeson, A. L., Wiginton, D. A., States, J. C., Perme, C. M., Dusing, M. R., Hutton, J. J.
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<strong>Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.</strong>
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Proc. Nat. Acad. Sci. 84: 5947-5951, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3475710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3475710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3475710" 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/JCI114730" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1182/blood.v99.3.1005" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/scitranslmed.3001756" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/nar/15.22.9365" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(90)90190-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1074/jbc.273.9.5093" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI16815" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM199605233342104" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI112050" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s100480000104" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(73)92850-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0090-1229(79)90157-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(75)91075-2" target="_blank">Full Text</a>]
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<strong>Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.</strong>
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[<a href="https://doi.org/10.1007/s004390050460" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320420213" target="_blank">Full Text</a>]
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<strong>Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.</strong>
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[<a href="https://doi.org/10.1172/JCI113909" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.87.16.6171" target="_blank">Full Text</a>]
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<strong>Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.</strong>
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[<a href="https://doi.org/10.1038/ng0796-290" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.1380010214" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000132752" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/6.13.2271" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/01.GIM.0000105752.80592.A3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI113458" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.23.5.446" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3028473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3028473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3028473" 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/10.1021/bi00373a017" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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Contributors:
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</span>
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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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Marla J. F. O'Neill - updated : 2/18/2005
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<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 : 9/30/2004
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </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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carol : 09/08/2023
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 03/28/2023<br>carol : 05/28/2015<br>terry : 11/15/2012<br>alopez : 5/18/2012<br>alopez : 4/6/2011<br>carol : 9/11/2009<br>terry : 6/5/2009<br>terry : 4/3/2009<br>wwang : 2/22/2005<br>terry : 2/18/2005<br>carol : 10/28/2004<br>carol : 10/28/2004<br>terry : 10/28/2004<br>ckniffin : 10/20/2004
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 608958
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</h3>
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<h3>
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<span class="mim-font">
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ADENOSINE DEAMINASE; ADA
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</h3>
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<br />
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<div>
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ADENOSINE AMINOHYDROLASE
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</span>
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</h4>
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</div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ADA</em></strong>
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</span>
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</p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 20q13.12
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Genomic coordinates <span class="small">(GRCh38)</span> : 20:44,619,522-44,651,699 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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20q13.12
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<td>
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<span class="mim-font">
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Adenosine deaminase deficiency, partial
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</span>
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</td>
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<td>
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<span class="mim-font">
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102700
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive; Somatic mosaicism
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Severe combined immunodeficiency due to ADA deficiency
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</span>
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</td>
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<td>
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<span class="mim-font">
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102700
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive; Somatic mosaicism
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The ADA gene encodes adenosine deaminase (EC 3.5.4.4), an enzyme that catalyzes the irreversible deamination of adenosine and deoxyadenosine in the purine catabolic pathway. See DPP4 (102720) for description of an adenosine deaminase complexing protein.</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>Cloning and Expression</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>Wiginton et al. (1983) isolated partial ADA cDNA sequences from a human T-cell lymphoblast cDNA library. Northern blot analysis detected a minor 5.8-kb and a major 1.6-kb mRNA transcript. ADA immunoreactive protein and translatable ADA mRNA were found to be 6 to 8 times higher in T-lymphoblast lines than in B-lymphoblast lines, which corresponded to increased ADA catalytic activity and protein in T cells compared to B cells. The differences are due mainly to differences in the rate of degradation of the ADA protein. </p><p>Valerio et al. (1984) isolated a full-length ADA cDNA encoding a 363-amino acid protein with a molecular mass of 40 kD. </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>Gene Structure</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>Valerio et al. (1985) determined that the ADA gene spans 32 kb and contains 12 exons. Wiginton et al. (1986) reported the complete sequence and structure of the human ADA gene. Kalman et al. (2004) stated that the ADA gene contains 10 exons. </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>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>By somatic cell hybridization, Creagan et al. (1973) and Tischfield et al. (1974) mapped the ADA gene to chromosome 20. Valerio et al. (1984) used an ADA cDNA probe in Southern hybridizations with DNA from a hybrid cell panel to assign the gene to chromosome 20. Mohandas et al. (1984) reported that the genes for ADA and SAHH are on separate parts of 20q, separated by 20q13.1. </p><p>Gene dosage studies of adenosine deaminase and inosine triphosphatase provided corroboration of partial trisomy 20 diagnosed cytogenetically (Rudd et al., 1979). Nielsen et al. (1986) studied ADA in a case of partial trisomy 20q resulting from a familial t(3;20) translocation. Gene dosage studies seemed to exclude the ADA gene from the distal part of 20q (20q13.1-qter). By dosage effect in a patient with deletion of 20q, Petersen et al. (1987) assigned the ADA locus to 20q13.11. </p><p>By means of in situ hybridization to high resolution spreads of somatic and pachytene chromosomes, Jhanwar et al. (1989) localized the ADA gene to 20q12-q13.11. </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>Rothschild et al. (1993) identified and mapped new dinucleotide repeat polymorphisms associated with the ADA locus. </p><p><strong><em>Severe Combined Immunodeficiency due to ADA Deficiency</em></strong></p><p>
|
|
In cell lines from 2 patients with severe combined immunodeficiency (SCID) due to ADA deficiency (102700), Adrian and Hutton (1983) and Wiginton et al. (1983) found 3- to 4-fold increased levels of normal translatable ADA mRNA compared to normal controls. The authors suggested that the cellular ADA deficiency was secondary to rapid degradation of a defective ADA protein. Similar results were found by Adrian et al. (1984). </p><p>In patients with SCID due to ADA deficiency, Akeson et al. (1987) identified several biallelic mutations in the ADA gene (see, e.g., 608958.0004; 608958.0006; 608958.0017). </p><p>Tzall et al. (1989) identified and/or characterized at least 9 RFLPs at the ADA locus and studied these in 17 patients with complete ADA deficiency and in 10 patients with partial ADA deficiency. Genetic compounds and homozygous haplotypes were identified among both types of patients. </p><p><strong><em>Delayed or Late Onset</em></strong></p><p>
|
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In 7 patients with delayed or late onset of SCID due to ADA deficiency, Santisteban et al. (1993) identified mutations in the ADA gene (see, e.g., 608958.0020 and 608958.0032). </p><p><strong><em>Partial ADA Deficiency</em></strong></p><p>
|
|
In 7 patients with partial ADA deficiency identified by a New York State newborn screening program, Hirschhorn et al. (1990) identified biallelic mutations in the ADA gene (608958.0010-608958.0015). Six of the 7 children either came from a limited area in the Caribbean or shared a black ethnic background, suggesting a founder effect; however, the finding of multiple new mutations suggested that partial ADA deficiency offered a selective advantage. </p><p><strong><em>Gene Reversion</em></strong></p><p>
|
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Hirschhorn et al. (1994, 1996) described unusual cases of somatic mosaicism due to in vivo reversion to normal of an inherited mutation in the ADA gene (608958.0024; 608958.0032). </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>Population 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>By means of a new and specific method, Spencer et al. (1968) demonstrated isozymes of erythrocyte adenosine deaminase and showed that there are 3 genetically determined phenotypes: ADA-1, ADA-2/1 and ADA-2. The frequency of the ADA-2 allele was estimated at 0.06 in Europeans, 0.04 in Blacks, and 0.11 in Asiatic Indians. Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).</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>In mice overexpressing Il13 (147683) in the lung, Blackburn et al. (2003) observed pulmonary inflammation and remodeling accompanied by a progressive increase in adenosine accumulation, inhibition of ADA activity and mRNA accumulation, and increased expression of several adenosine receptors (see 102776). Ada enzyme therapy diminished the Il13-induced increase in adenosine, inhibited Il13-induced inflammation, chemokine elaboration, fibrosis, and alveolar destruction, and prolonged the survival of Il13 transgenic mice. Il13 was strongly induced by adenosine in Ada-null mice. Blackburn et al. (2003) concluded that adenosine and adenosine signaling contribute to and influence the severity of IL13-induced tissue responses and that IL13 and adenosine stimulate one another in an amplification pathway. </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>ALLELIC VARIANTS</strong>
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</span>
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<strong>32 Selected Examples):</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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ADA, LYS80ARG
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<br />
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SNP: rs11555566,
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gnomAD: rs11555566,
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ClinVar: RCV000002031, RCV000247281, RCV001711065
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>This variant, formerly titled SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, has been reclassified based on the findings of Bell et al. (2011). </p><p>In a patient with SCID due to ADA deficiency (102700) originally reported by Hirschhorn et al. (1975), Valerio et al. (1986) identified compound heterozygosity for 2 mutations in the ADA gene: lys80 to arg (K80R) and L304R (608958.0005). </p><p>In a preconception carrier screen for 448 severe recessive childhood diseases involving 437 target genes, Bell et al. (2011) found that the K80R mutation in ADA is a polymorphism carried by unaffected individuals. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ADA, ARG101TRP
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<br />
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SNP: rs121908717,
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ClinVar: RCV000002032
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with SCID due to ADA deficiency (102700), Akeson et al. (1988) identified compound heterozygosity for 2 mutations in the ADA gene: a C-to-T transition, resulting in an arg101-to-trp (R101W) substitution, and R211H (608958.0004). Functional expression studies showed that the mutant genes were transcribed into normal mRNA but did not encode functional proteins. </p><p>In T cells from the patient reported by Akeson et al. (1988) with the R101W and R211H mutations, Arredondo-Vega et al. (1990) found that the R101W mutation could be expressed selectively in IL2-dependent T cells as a stable, active enzyme. Cultured T cells from other patients with the R211H mutation did not express significant ADA activity, whereas some B-cell lines from a patient with an R101Q (608598.0003) mutation had normal ADA activity. Arredondo-Vega et al. (1990) speculated that arg101 may be at a site that determines degradation of ADA by a protease that is under negative control by IL2 in T cells, and is variably expressed in B cells. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ADA, ARG101GLN
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<br />
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SNP: rs121908714,
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gnomAD: rs121908714,
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ClinVar: RCV000002033, RCV000788281, RCV003234887
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a cell line from a patient with SCID due to ADA deficiency (102700), Bonthron et al. (1985) identified a G-to-A transition in exon 4 of the ADA gene, resulting in an arg101-to-gln (R101Q) substitution. Since the predicted primary structure of the enzyme was normal, the mutation was apparently responsible for loss of function in the gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0004 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ADA, ARG211HIS
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<br />
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SNP: rs121908716,
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gnomAD: rs121908716,
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ClinVar: RCV000002034, RCV000756972
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a patient with SCID due to ADA deficiency (102700), Akeson et al. (1987) identified compound heterozygosity for 2 mutations in the ADA gene: a G-to-A transition in exon 7, resulting in an arg211-to-his (R211H) substitution, and A329V (608958.0006). In another SCID patient, Akeson et al. (1988) identified compound heterozygosity for the R211H and R101W (608958.0002) mutations. Functional expression studies showed that the mutant genes were transcribed into normal mRNA, but did not encode functional proteins. </p><p>In a 5-year-old Japanese male patient with SCID due to ADA deficiency, Onodera et al. (1998) identified the R211H substitution caused by a 632G-A transition in the ADA gene. The patient had been receiving periodic infusions of genetically modified autologous T lymphocytes carrying the transduced ADA gene. ADA enzyme activity in the patient's circulating T cells, which was only marginally detected before gene transfer, increased to levels comparable to those of a heterozygote carrier and was associated with increased T-lymphocyte counts and improvement of the patient's immune function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
|
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</span>
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</h4>
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|
</div>
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<div>
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<span class="mim-text-font">
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ADA, LEU304ARG
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<br />
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SNP: rs199422327,
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gnomAD: rs199422327,
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ClinVar: RCV000002035, RCV004752678, RCV004791193
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|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with SCID due to ADA deficiency (102700) originally reported by Hirschhorn et al. (1975), Valerio et al. (1986) identified compound heterozygosity for 2 mutations in the ADA gene: a T-to-G transversion in exon 10, resulting in a leu304-to-arg (L304R) substitution and K80R (608958.0001). Functional expression studies showed that the L304R substitution resulted in ADA enzyme inactivation. </p>
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|
</span>
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</div>
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<div>
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<br />
|
|
</div>
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
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|
|
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ADA, ALA329VAL
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<br />
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|
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SNP: rs121908715,
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gnomAD: rs121908715,
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|
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ClinVar: RCV000002036, RCV000200442, RCV000373062, RCV001194143, RCV003944791
|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with SCID due to ADA deficiency (102700), Akeson et al. (1987) identified compound heterozygosity for 2 mutations in the ADA gene: a 1081C-T transition in exon 11, resulting in an ala329-to-val (A329V) substitution, and R211H (608958.0004). A second patient was compound heterozygous for A329V and a deletion of exon 4 (608958.0017). Functional expression studies showed that the mutant genes were transcribed into normal mRNA but did not encode functional proteins. </p><p>In a SCID patient, Markert et al. (1989) identified the A329V mutation in exon 11 of the ADA gene. The authors found that 5 of 13 patients (7 of 22 alleles) had the same A329V mutation and that A329V was associated with 3 distinct ADA haplotypes. The findings did not support a founder effect. </p><p>Hirschhorn et al. (1992) found that 5 missense mutations accounted for one-third of 45 ADA-negative chromosomes studied. The A329V mutation was the most frequent, being found in 4 persons heterozygous for the mutation and 1 person homozygous for the mutation (6/45 alleles). </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 REMOVED FROM DATABASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, 3.25-KB DEL, ALU-RELATED
|
|
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|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000002037
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Belgian female infant with SCID and ADA deficiency (102700), born of consanguineous parents, Berkvens et al. (1987) identified a homozygous 3.2-kb deletion spanning the promoter and the first exon of the ADA gene. No ADA-specific mRNA was detected in the patient's fibroblasts, indicating a null allele. Both parents and an unaffected brother were heterozygous for the mutation. </p><p>Markert et al. (1988) identified a 3.3-kb deletion in the ADA gene in an American patient with ADA deficiency and SCID who had no lymphocyte ADA enzyme activity, no detectable ADA mRNA, and a deletion in the region of the first exon of the ADA gene. Markert et al. (1988) determined that the deletion of the ADA promoter and first exon resulted from homologous recombination between 2 repetitive DNA sequences of the Alu family. By direct sequencing, Berkvens et al. (1990) showed that the 3.25-kb deletion was due to recombination within the left arms of 2 direct AluI repeats. They noted that the mutation was identical to that in the unrelated patient reported by Markert et al. (1988); however, neither the pedigree of the Belgian family nor a comparison of haplotype data suggested a relationship between the American and Belgian patients. </p><p>In a patient with SCID due to ADA deficiency, Jiang et al. (1997) identified compound heterozygosity for the exon 1 deletion and 2 mutations on the same allele (608958.0029). Three of 4 additional unrelated patients tested had the exon 1 deletion, suggesting that it is relatively common. The authors noted that the exon 1 deletion accounted for 10% of almost 100 chromosomes studied by several laboratories, but was easily missed by generally used methods of mutation detection. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, PRO297GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908718,
|
|
|
|
|
|
gnomAD: rs121908718,
|
|
|
|
|
|
ClinVar: RCV000002038, RCV000059115, RCV002260959, RCV002307351, RCV004752679
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated patients with partial ADA deficiency (102700) who were immunocompetent, Hirschhorn et al. (1989) identified a C-to-A transversion in exon 10 of the ADA gene, resulting in a pro297-to-gln (P297Q) substitution. One patient was homozygous for the mutation and the other was compound heterozygous. The P297Q mutation resulted in a heat-labile enzyme. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, ARG76TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908736,
|
|
|
|
|
|
gnomAD: rs121908736,
|
|
|
|
|
|
ClinVar: RCV000002039, RCV000059096, RCV000482569
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 patients with partial ADA deficiency who lacked ADA activity in erythrocytes but retained ADA activity in lymphocytes (102700), Hirschhorn et al. (1990) identified a 226C-T transition in exon 4 of the ADA gene, resulting in an arg76-to-trp (R76W) substitution. The R76W mutant allele resulted in an abnormally acidic protein with 16% normal activity in lymphoid cells. One patient was homozygous and the other 2 were compound heterozygous (see also 608958.0012 and 608958.0013). All 3 patients were from the West Indies, and the authors postulated a selective advantage of carrying a mutant allele for partial ADA deficiency. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, ARG149GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908737,
|
|
|
|
|
|
gnomAD: rs121908737,
|
|
|
|
|
|
ClinVar: RCV000002040, RCV000059104, RCV002307352
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with partial ADA deficiency (102700), Hirschhorn et al. (1990) identified a 446G-A transition in the ADA gene, resulting in an arg149-to-gln (R149Q) substitution. The R149Q mutant allele resulted in a mildly acidic protein with 42% residual activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, PRO274LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908738,
|
|
|
|
|
|
gnomAD: rs121908738,
|
|
|
|
|
|
ClinVar: RCV000002041, RCV000059114
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with partial ADA deficiency (102700), Hirschhorn et al. (1990) identified compound heterozygosity for 2 mutations in the ADA gene: an 821C-T transition in exon 9, resulting in a pro274-to-leu (P274L) substitution, and R76Y (608958.0010). The P274L mutant allele resulted in an abnormally basic protein with 12% normal activity in lymphoid cells. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, LEU107PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908739,
|
|
|
|
|
|
gnomAD: rs121908739,
|
|
|
|
|
|
ClinVar: RCV000002042, RCV000255602, RCV001731270
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated patients with SCID due to ADA deficiency (102700), Hirschhorn et al. (1990) identified a 320T-C transition in exon 4 of the ADA gene, resulting in a leu107-to-pro (L107P) substitution. Analysis of enzyme activity showed that the L107P mutation is a null allele. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, ARG211CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908740,
|
|
|
|
|
|
gnomAD: rs121908740,
|
|
|
|
|
|
ClinVar: RCV000002043, RCV000059111, RCV002298431
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with partial ADA deficiency (see 102700), Hirschhorn et al. (1990) identified compound heterozygosity for 2 mutations in the ADA gene: a 631C-T transition, resulting in an arg211-to-cys (R211C) substitution, and L107P (608958.0013). The R211C mutant allele resulted in an abnormally acidic protein with 8% normal activity in lymphoid cells. </p><p>In 2 sisters with adult-onset ADA deficiency, Shovlin et al. (1994) identified compound heterozygosity for 2 mutations in the ADA gene. The paternal allele contained a deletion resulting from homologous recombination between 2 Alu elements, predicting a null phenotype. The maternal allele had a C-to-T transition in a CpG dinucleotide that changed the codon for arginine-211, which lies in a conserved sequence close to the active site, to cysteine. This mutation had previously been observed in a child thought to have partial ADA deficiency by Hirschhorn et al. (1990) (608958.0013). Shovlin et al. (1994) suggested that immune function in children with partial ADA deficiency may deteriorate with time. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, ALA215THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs114025668,
|
|
|
|
|
|
gnomAD: rs114025668,
|
|
|
|
|
|
ClinVar: RCV000002044, RCV000059112, RCV001280563
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with partial ADA deficiency (see 102700), Hirschhorn et al. (1990) identified a homozygous 643G-A transition in exon 7 of the ADA gene, resulting in an ala215-to-thr (A215T) substitution. The A215T mutant allele resulted in an abnormally basic protein with 8% residual activity in lymphoid cells. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, GLY216ARG
|
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|
|
|
|
<br />
|
|
|
|
SNP: rs121908723,
|
|
|
|
|
|
gnomAD: rs121908723,
|
|
|
|
|
|
ClinVar: RCV000002045, RCV000256171, RCV003904795
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with SCID due to ADA deficiency (102700), Hirschhorn et al. (1991) identified a homozygous 646G-A transition in exon 7 of the ADA gene, resulting in a gly216-to-arg (G216R) substitution. The patient was the offspring of consanguineous Amish parents from eastern Pennsylvania. Computer analysis of secondary structure predicted a major alteration with loss of a beta-pleated sheet in a highly conserved region of the protein. Onset of symptoms was at 3 days of age with respiratory distress from pneumonia unresponsive to antibiotics. Of 9 patients, this one had the highest concentration of the toxic metabolite deoxy-ATP and a relatively poor immunologic response during the initial 2 years of therapy with polyethylene glycol-adenosine deaminase. Heterozygosity for the same mutation was found in 2 of 21 additional patients with ADA-SCID. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, IVS3AS, A-G, -2, EX4DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906267,
|
|
|
|
|
|
|
|
ClinVar: RCV000002046
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with SCID due to ADA deficiency (102700), Akeson et al. (1987) identified compound heterozygosity for 2 mutations in the ADA gene: a deletion of exon 4 and A329V (608958.0006). Akeson et al. (1988) found that the exon 4 deletion was caused by an A-to-G transition in the 3-prime splice site of intron 3. Functional expression studies showed that the mutant gene was transcribed into normal mRNA but did not encode a functional protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, ARG156CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908735,
|
|
|
|
|
|
gnomAD: rs121908735,
|
|
|
|
|
|
ClinVar: RCV000002047, RCV000780816, RCV001588796
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with SCID due to ADA deficiency (102700) who was unusual for responding to the limited form of enzyme therapy provided by repeated partial exchange transfusions (Polmar et al., 1976; Dyminski et al., 1979), Hirschhorn (1992) identified compound heterozygosity for 2 mutations in the ADA gene: a 466C-T transition, resulting in an arg156-to-cys (R156C) substitution and L304R (608958.0005). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, SER291LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908721,
|
|
|
|
|
|
gnomAD: rs121908721,
|
|
|
|
|
|
ClinVar: RCV000002048, RCV000788574, RCV004766976
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with SCID due to ADA deficiency (102700) who was unusual for responding to the limited form of enzyme therapy provided by repeated partial exchange transfusions (Polmar et al., 1976; Dyminski et al., 1979), Hirschhorn (1992) identified compound heterozygosity for 2 mutations in the ADA gene: an 872C-T transition in exon 10, resulting in a ser291-to-leu (S291L) substitution and A329V (608958.0006). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, LATE-ONSET</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, IVS10AS, G-A, -34
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1194494050,
|
|
|
|
|
|
gnomAD: rs1194494050,
|
|
|
|
|
|
ClinVar: RCV000002049, RCV003466782
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with late-onset SCID due to ADA deficiency (102700), in whom the diagnosis of ADA deficiency was first made at the age of 15 years, Santisteban et al. (1993) identified a homozygous -34G-A transition in intron 10 of the ADA gene, converting a GG dinucleotide to AG, resulting in a new splice acceptor site with all the cis-acting elements of a functional 3-prime splice junction. Besides introducing 9 new codons after leu325, use of the cryptic splice site shifted the reading frame to include 268 bp of the normal 3-prime noncoding region before a new TGA stop codon was generated 16 bp from the poly(A) addition signal. The mutant protein was predicted to consist of 463 residues, compared to the normal 363 residues. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 ADENOSINE DEAMINASE 2 ALLOZYME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, ASP8ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs73598374,
|
|
|
|
|
|
gnomAD: rs73598374,
|
|
|
|
|
|
ClinVar: RCV000002050, RCV000351193, RCV000508187, RCV001668121
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hirschhorn et al. (1994) determined that the common electrophoretic variant of ADA, the ADA2 allozyme (ADA*2), is caused by a 22G-A transition in the ADA gene, resulting in an asp8-to-asn (D8N) substitution. The ADA2 allozyme is a more basic electrophoretic variant that is codominantly inherited with the usual ADA1 allozyme. Functional expression studies of the D8N protein confirmed expression of an enzyme that comigrated with a naturally occurring ADA2 allozyme. Hirschhorn et al. (1994) noted that the ADA2 allozyme has been found in all populations studied and results in only minimally reduced enzyme activity in erythrocytes. The gene frequency of the ADA2 allozyme is estimated as 0.06 in Western populations, lower among individuals of African descent, and higher in Southeast Asian populations. The ADA2 allele was also found on at least 2 different genetic backgrounds, 1 of Ashkenazi Jewish ancestry and 1 in a large Mormon pedigree from Utah, suggesting independent recurrence of the mutation. Consistent with independent recurrence, the G-to-A transition was located in a CpG dinucleotide of the type subject to a high frequency of mutation. Hirschhorn et al. (1994) also found a probable intragenic crossover in the very large first intron that is rich in repetitive DNA sequences. </p><p>In 2 Italian groups of autistic children, Bottini et al. (2001) found a significantly higher frequency of the low-activity ADA2 allele than in controls. They suggested that this genotype-dependent reduction in ADA activity may be a risk factor for the development of autism. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, IVS2DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs778343059,
|
|
|
|
|
|
gnomAD: rs778343059,
|
|
|
|
|
|
ClinVar: RCV000670969, RCV001731875
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sisters with SCID due to ADA deficiency (102700) reported by Umetsu et al. (1994), Arredondo-Vega et al. (1994) identified compound heterozygosity for 2 splice site mutations in the ADA gene: a G-to-A transition at the +1 position of the 5-prime splice site of IVS2, and a complex 17-bp rearrangement of the 3-prime splice site of IVS8, resulting in a 7-purine insertion into the polypyrimidine tract and alteration of the reading frame of exon 9 (608958.0023). The sisters showed a disparity in clinical phenotype, with residual ADA activity in cultured T cells, fibroblasts, and B lymphoblasts of one, but no detectable activity in the cells of the other. ADA mRNA was undetectable by Northern blot analysis in the cells of both patients. PCR-amplified ADA cDNA mutant clones showed premature translation stop codons, consistent with these mutations. However, some cDNA clones from T cells of both patients and from fibroblasts and EBV-transformed B cells of the first patient were normally spliced at both the exon 2/3 and 8/9 junctions. A normal coding sequence was documented for clones from both sibs. Arredondo-Vega et al. (1994) suggested that a low level of normal pre-mRNA splicing may occur despite mutation of the invariant first nucleotide of the 5-prime splice donor sequence, and that differences in efficiency of such splicing may account for the difference in residual ADA activity, immune dysfunction, and clinical severity in the 2 sibs. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, IVS8AS, 7-BP INS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2123516908,
|
|
|
|
|
|
|
|
ClinVar: RCV000002052
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the complex 17-bp rearrangement of the 3-prime splice site of IVS8 in the ADA gene, resulting in a 7-purine insertion into the polypyrimidine tract and alteration of the reading frame of exon 9, that was identified in compound heterozygous state in sibs with SCID due to adenosine deaminase deficiency (102700) by Arredondo-Vega et al. (1994), see 608958.0022. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, IVS1DS, G-C, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776534,
|
|
|
|
|
|
|
|
ClinVar: RCV000002053
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 2.5-year-old patient with SCID due to ADA deficiency (102700), Hirschhorn et al. (1994) identified compound heterozygosity for 2 mutations in the ADA gene: a +1G-C transversion at the donor splice site in IVS1, and R101Q (608958.0003). The patient's disease course improved, and he was healthy by age 16 years. Cell lines established at age 16 showed 50% of normal ADA activity; 50% of ADA mRNA had normal sequence, and 50% had the R101Q mutation. Genomic DNA contained the missense mutation but not the splice site mutation. The authors postulated somatic mutation or reversion at the site of the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0025 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, GLY74VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs199422328,
|
|
|
|
|
|
gnomAD: rs199422328,
|
|
|
|
|
|
ClinVar: RCV000002054
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a newborn with hepatic dysfunction as a complication of SCID due to ADA deficiency (102700), Bollinger et al. (1996) identified compound heterozygosity for 2 mutations in the ADA gene: a G-to-T transversion, resulting in a gly74-to-val (G74V) substitution, and A329V (608958.0006). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0026 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, IVS5DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs761242509,
|
|
|
|
|
|
gnomAD: rs761242509,
|
|
|
|
|
|
ClinVar: RCV000002055, RCV000254941, RCV001731467
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with a mild form of SCID due to ADA deficiency (102700), Hirschhorn et al. (1996) identified compound heterozygosity for 2 mutations in the ADA gene: a G-to-A transition in intron 5, resulting in deletion of exon 5, and R156H (608958.0032). The splice site mutation was inherited from the father and the R156H mutation was inherited from the mother. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>.0027 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ADA, LEU152MET
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<br />
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SNP: rs121908728,
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gnomAD: rs121908728,
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ClinVar: RCV000002056, RCV000059105, RCV001531958, RCV001731271
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an Afghan boy with partial ADA deficiency (see 102700) identified through newborn screening in New York State, Hirschhorn et al. (1997) identified a homozygous 454C-A transversion of the ADA gene resulting in a leu152-to-met (L152M) substitution. The child was born of consanguineous parents. Functional expression studies showed that the L152M mutation had considerably less enzymatic activity than the pathogenic R211C (608958.0014) mutation. The child had the highest level of the accumulated metabolite dATP among the 13 partially ADA-deficient patients studied, but considerably less dATP than those with immunodeficiency. The authors concluded that the L152M mutation could result in disease in homozygous individuals challenged by severe environmental insult, or in heterozygous individuals when combined with a null mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0028 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ADA, THR233ILE
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<br />
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SNP: rs121908729,
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ClinVar: RCV000002057, RCV000059113
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a healthy adult male of Afghan Kung descent with partial ADA deficiency (see 102700), Hirschhorn et al. (1997) identified a homozygous 698C-T transition in the ADA gene, resulting in a thr233-to-ile (T233I) substitution. Functional expression studies showed that the T233I mutation had 16 to 20% normal enzyme activity, which was slightly greater than the pathogenic R211C (608958.0014) mutation. Immunologic studies done previously on the patient indicated an unstable ADA enzyme that was absent in red blood cells but present in sufficient amounts in other cell types to prevent accumulation of toxic metabolites and resulting immunodeficiency. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0029 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ADA, TYR97CYS AND LEU106VAL
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<br />
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SNP: rs267606634, rs267606635,
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gnomAD: rs267606634,
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|
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ClinVar: RCV001796713
|
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with SCID due to ADA deficiency (102700), Jiang et al. (1997) identified compound heterozygosity for 2 mutant ADA alleles. One allele, inherited from the mother, contained 2 mutations in exon 4: a 290A-G transition, resulting in a tyr97-to-cys (Y97C) substitution, and a 316C-G transversion, resulting in a leu106-to-val (L106V) substitution. The second allele, inherited from the father, was a deletion (608958.0008). The patient was diagnosed prenatally in a family with an affected child previously reported by Moen et al. (1987), and the diagnosis was confirmed after birth by demonstration of less than 1% ADA activity in red blood cells and mononuclear cells. Functional expression studies showed that the L106V mutation resulted in 30% of normal activity, similar to that of partial mutations, and the Y97C mutation resulted in 1.5% of normal activity. The presence of both mutations on the same allele virtually abolished detectable enzyme activity to less than 0.01%. Crystallographic structure analysis showed that the L106V mutation surrounds the opening of the active site and is predicted to reduce the stability of substrate binding. The Y97C mutation resides within the active site and interacts with salt ridges that play a role in the catalytic mechanism of ADA. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0030 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, DELAYED ONSET</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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ADA, IVS11AS, 31701T-A
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<br />
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|
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SNP: rs387906268,
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|
|
ClinVar: RCV000002059, RCV000002060, RCV003987306
|
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 4 patients from 3 Saudi Arabian families with delayed onset of immune deficiency (102700), Arredondo-Vega et al. (2002) identified homozygosity for a 31701T-A transversion in the last splice acceptor site of the ADA gene. By converting TG to AG, this mutation activated a cryptic splice site, inserting the last 13 nucleotides of intron 11 into ADA mRNA, which resulted in addition of a 43-residue C-terminal tail that rendered the protein unstable. When mutant cDNA from 3 patients was expressed in E. coli, only 1% of the ADA activity obtained with wildtype cDNA was yielded. The oldest patient, 16 years old at diagnosis, had greater residual immune function and less elevated erythrocyte deoxyadenosine nucleotides than his 4-year-old affected sister. In addition to being homozygous for the intron 11 mutation, he also carried a deletion of 11 adjacent downstream nucleotides (608958.0031). </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0031 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, LATE-ONSET</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, IVS11AS, 31701T-A AND 11-BP DEL, NT31702
|
|
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|
|
<br />
|
|
|
|
SNP: rs2123505581,
|
|
|
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|
|
ClinVar: RCV000002059, RCV000002060, RCV003987306
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with late-onset of SCID due to ADA deficiency (102700) who was diagnosed at age 16 years, Arredondo-Vega et al. (2002) identified the homozygous intron 11 mutation (608958.0030) and an 11-bp deletion of adjacent basepairs 31702-31712, which suppressed aberrant splicing and excised an unusual purine-rich tract from the wildtype intron 11/exon 12 junction. Despite serious sequelae of early infections, this patient had apparently stabilized at some time during childhood. His T cells and Epstein-Barr virus (EBV) B-cell line had 75% of normal ADA activity and ADA protein of normal size. The authors noted that the mild atypical features of this patient were caused by an unusual form of somatic reversion: second-site suppression of a cryptic splice site. However, after several months of PEG-ADA treatment, the patient had lower ADA activity than before treatment, and the authors suggested that therapy allowed the ADA-deficient lymphoid cells to survive and proliferate. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0032 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, LATE ONSET</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADA, ARG156HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908722,
|
|
|
|
|
|
gnomAD: rs121908722,
|
|
|
|
|
|
ClinVar: RCV000002061, RCV000059106, RCV001731272
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 patients with delayed or late onset of SCID due to ADA deficiency (102700), Santisteban et al. (1993) identified a heterozygous 467G-A transition in exon 5 of the ADA gene at a CpG hotspot, resulting in an arg156-to-his (R156H) substitution. All 3 patients were compound heterozygous for R156H and a mutation predicted to result in an inactive enzyme; 1 patient also carried the G216R (608958.0016) mutation. Functional expression studies showed that the R156H mutant enzyme retained 1.5 to 2% residual activity. </p><p>In a patient with a mild form of SCID due to ADA deficiency, Hirschhorn et al. (1996) identified compound heterozygosity for the R156H mutation, inherited from the mother, and a splice site mutation (608958.0026) inherited from the father. The patient showed clinical improvement without therapy, and analysis at the age of 11 years revealed that the R156H mutation had undergone in vivo reversion to normal in lymphoid cell lines and in a subset of peripheral blood cells. The authors concluded that the somatic mosaicism caused the relatively mild phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
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|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Abbott et al. (1986); Adrian et al. (1984); Aitken and Ferguson-Smith
|
|
(1978); Akeson et al. (1989); Blackburn et al. (1998); Markert et al.
|
|
(1987); Orkin et al. (1983); Tariverdian and Ritter (1969); Valerio
|
|
et al. (1984); Wiginton et al. (1984)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Abbott, C. M., Skidmore, C. J., Searle, A. G., Peters, J.
|
|
<strong>Deficiency of adenosine deaminase in the wasted mouse.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 693-695, 1986.
|
|
|
|
|
|
[PubMed: 3456164]
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|
|
[Full Text: https://doi.org/10.1073/pnas.83.3.693]
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Adrian, G. S., Hutton, J. J.
|
|
<strong>Adenosine deaminase messenger RNAs in lymphoblast cell lines derived from leukemic patients and patients with hereditary adenosine deaminase deficiency.</strong>
|
|
J. Clin. Invest. 71: 1649-1660, 1983.
|
|
|
|
|
|
[PubMed: 6134754]
|
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|
|
[Full Text: https://doi.org/10.1172/jci110920]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Adrian, G. S., Wiginton, D. A., Hutton, J. J.
|
|
<strong>Characterization of normal and mutant adenosine deaminase messenger RNAs by translation and hybridization to a cDNA probe.</strong>
|
|
Hum. Genet. 68: 169-172, 1984.
|
|
|
|
|
|
[PubMed: 6548726]
|
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|
|
[Full Text: https://doi.org/10.1007/BF00279309]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Adrian, G. S., Wiginton, D. A., Hutton, J. J.
|
|
<strong>Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines.</strong>
|
|
Molec. Cell. Biol. 4: 1712-1717, 1984.
|
|
|
|
|
|
[PubMed: 6208479]
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|
|
[Full Text: https://doi.org/10.1128/mcb.4.9.1712-1717.1984]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Aitken, D. A., Ferguson-Smith, M. A.
|
|
<strong>Investigation of the intrachromosomal position of the ADA locus on chromosome 20 by gene dosage studies.</strong>
|
|
Cytogenet. Cell Genet. 22: 514-517, 1978.
|
|
|
|
|
|
[PubMed: 752533]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000131012]
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</p>
|
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</li>
|
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<li>
|
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<p class="mim-text-font">
|
|
Akeson, A. L., Wiginton, D. A., Dusing, M. R., States, J. C., Hutton, J. J.
|
|
<strong>Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.</strong>
|
|
J. Biol. Chem. 263: 16291-16296, 1988.
|
|
|
|
|
|
[PubMed: 3182793]
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|
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Akeson, A. L., Wiginton, D. A., Hutton, J. J.
|
|
<strong>Normal and mutant human adenosine deaminase genes.</strong>
|
|
J. Cell. Biochem. 39: 217-228, 1989.
|
|
|
|
|
|
[PubMed: 2651461]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/jcb.240390302]
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</p>
|
|
</li>
|
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<li>
|
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<p class="mim-text-font">
|
|
Akeson, A. L., Wiginton, D. A., States, J. C., Perme, C. M., Dusing, M. R., Hutton, J. J.
|
|
<strong>Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 5947-5951, 1987.
|
|
|
|
|
|
[PubMed: 3475710]
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|
|
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|
|
[Full Text: https://doi.org/10.1073/pnas.84.16.5947]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Arredondo-Vega, F. X., Kurtzberg, J., Chaffee, S., Santisteban, I., Reisner, E., Povey, M. S., Hershfield, M. S.
|
|
<strong>Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combined immunodeficiency.</strong>
|
|
J. Clin. Invest. 86: 444-452, 1990.
|
|
|
|
|
|
[PubMed: 1974554]
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|
|
[Full Text: https://doi.org/10.1172/JCI114730]
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</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Arredondo-Vega, F. X., Santisteban, I., Kelly, S., Schlossman, C. M., Umetsu, D. T., Hershfield, M. S.
|
|
<strong>Correct splicing despite mutation of the invariant first nucleotide of a 5-prime splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.</strong>
|
|
Am. J. Hum. Genet. 54: 820-830, 1994.
|
|
|
|
|
|
[PubMed: 8178821]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Arredondo-Vega, F. X., Santisteban, I., Richard, E., Bali, P., Koleilat, M., Loubser, M., Al-Ghonaium, A., Al-Helali, M., Hershfield, M. S.
|
|
<strong>Adenosine deaminase deficiency with mosaicism for a 'second-site suppressor' of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy.</strong>
|
|
Blood 99: 1005-1013, 2002.
|
|
|
|
|
|
[PubMed: 11807006]
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|
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[Full Text: https://doi.org/10.1182/blood.v99.3.1005]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Ganusova, E. E., Mudge, J., Langley, R. J., Zhang, L., Lee, C. C., Schilkey, F. D., Sheth, V., Woodward, J. E., Peckham, H. E., Schroth, G. P., Kim, R. W., Kingsmore, S. F.
|
|
<strong>Carrier testing for severe childhood recessive diseases by next-generation sequencing.</strong>
|
|
Sci. Transl. Med. 3: 65ra4, 2011. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 21228398]
|
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|
|
[Full Text: https://doi.org/10.1126/scitranslmed.3001756]
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</p>
|
|
</li>
|
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|
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<li>
|
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<p class="mim-text-font">
|
|
Berkvens, T. M., Gerritsen, E. J. A., Oldenburg, M., Breukel, C., Wijnen, J. T., van Ormondt, H., Vossen, J. M., van der Eb, A. J., Meera Khan, P.
|
|
<strong>Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene.</strong>
|
|
Nucleic Acids Res. 15: 9365-9378, 1987.
|
|
|
|
|
|
[PubMed: 3684597]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/15.22.9365]
|
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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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Wiginton, D. A., Adrian, G. S., Hutton, J. J.
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