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Entry
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- 200900 - SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY
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- OMIM
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<span class="h4">200900</span>
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<a href="/clinicalSynopsis/200900"><strong>Clinical Synopsis</strong></a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1258&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/114" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=935" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/8a8705f3-28ef-4fa5-b117-7be5e20d980e/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div style="display: table-cell;">Cell Lines</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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<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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<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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 789777007<br />
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<strong>ORPHA:</strong> 935<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Other, mainly phenotypes with suspected mendelian basis">
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200900
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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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SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY
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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>
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<h4>
|
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<span class="mim-font">
|
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SLSD WITH SCID<br />
|
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ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<div class="btn-group ">
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<a href="/clinicalSynopsis/200900" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> GROWTH </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Height </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Short-limb dysplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315852&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315852</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> CHEST </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> External Features </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Harrison grooves <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60564007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60564007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0277833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0277833</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKELETAL </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Metaphyseal chondrodysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28681006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28681006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265290&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265290</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005871" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005871</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005871" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005871</a>]</span><br />
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</span>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Limbs </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Long fibulae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848109</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003085</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> HEMATOLOGY </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Lymphopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48813009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48813009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.810</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853986&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853986</a>, <a href="https://bioportal.bioontology.org/search?q=C0024312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001888" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001888</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001888" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001888</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> IMMUNOLOGY </strong>
|
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</span>
|
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
|
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|
|
- Agammaglobulinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/119250001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">119250001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/119249001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">119249001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D80.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D80.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/279.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">279.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001768&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001768</a>, <a href="https://bioportal.bioontology.org/search?q=C0086438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086438</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004313</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004432" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004432</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004432" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004432</a>]</span><br /> -
|
|
Thymic hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/767263007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">767263007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93297002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93297002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D82.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D82.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/279.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">279.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0685891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0685891</a>, <a href="https://bioportal.bioontology.org/search?q=C0012236&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0012236</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000778" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000778</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000778" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000778</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Early lethal<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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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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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#11" class="mim-tip-reference" title="McKusick, V. A., Cross, H. E. <strong>Ataxia-telangiectasia and Swiss-type agammaglobulinemia: Two genetic disorders of the immune mechanisms in related Amish sibships.</strong> JAMA 195: 739-745, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5951879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5951879</a>] [<a href="https://doi.org/10.1001/jama.195.9.739" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5951879">McKusick and Cross (1966)</a> described an Amish infant with 'Swiss agammaglobulinemia' (severe combined immunodeficiency) and a form of skeletal dysplasia similar to achondroplasia who died in early infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5951879" 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="#4" class="mim-tip-reference" title="Davis, J. A. <strong>Swiss-type agammaglobulinaemia and achondroplasia. (Letter)</strong> Brit. Med. J. 3: 110 only, 1967."None>Davis (1967)</a> stated that at least 5 such cases were known to him. The case he personally described was a female infant whose parents were Jewish but not known to be related. The child died at 2 months of age.</p><p><a href="#7" class="mim-tip-reference" title="Gatti, R. A., Platt, N., Pomerance, H. H., Hong, R., Langer, L. O., Kay, H. E. M., Good, R. A. <strong>Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia.</strong> J. Pediat. 75: 675-684, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5809843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5809843</a>] [<a href="https://doi.org/10.1016/s0022-3476(69)80465-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5809843">Gatti et al. (1969)</a> described affected brother and sister who also had ectodermal dysplasia. They suggested that other cases had been reported by <a href="#11" class="mim-tip-reference" title="McKusick, V. A., Cross, H. E. <strong>Ataxia-telangiectasia and Swiss-type agammaglobulinemia: Two genetic disorders of the immune mechanisms in related Amish sibships.</strong> JAMA 195: 739-745, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5951879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5951879</a>] [<a href="https://doi.org/10.1001/jama.195.9.739" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5951879">McKusick and Cross (1966)</a>, <a href="#3" class="mim-tip-reference" title="Davis, J. A. <strong>A case of Swiss-type agammaglobulinaemia and achondroplasia.</strong> Brit. Med. J. 2: 1371-1374, 1966."None>Davis (1966)</a>, <a href="#5" class="mim-tip-reference" title="Fulginiti, V. A., Hathaway, W. E., Pearlman, D. S., Kempe, C. H. <strong>Agammaglobulinaemia and achondroplasia. (Letter)</strong> Brit. Med. J. 2: 242 only, 1967."None>Fulginiti et al. (1967)</a>, and <a href="#1" class="mim-tip-reference" title="Alexander, W. J., Dunbar, J. S. <strong>Unusual bone changes in thymic alymphoplasia.</strong> Ann. Radiol. 11: 389-394, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5678781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5678781</a>]" pmid="5678781">Alexander and Dunbar (1968)</a>. <a href="#13" class="mim-tip-reference" title="Say, B., Tinaztepe, B., Tinaztepe, K. <strong>Thymic dysplasia associated with dyschondroplasia in an infant.</strong> Am. J. Dis. Child. 123: 240-244, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5026207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5026207</a>] [<a href="https://doi.org/10.1001/archpedi.1972.02110090110017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5026207">Say et al. (1972)</a> reported 2 affected Turkish sibs. The skeletal dysplasia in these cases may be best classified as a metaphyseal chondrodysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5678781+5809843+5951879+5026207" 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="#12" class="mim-tip-reference" title="McKusick, V. A. <strong>Personal Communication.</strong> Baltimore, Md. 1972."None>McKusick (1972)</a> described a family studied by <a href="#10" class="mim-tip-reference" title="Mathies, A. W. <strong>Personal Communication.</strong> Los Angeles, Calif. 1972."None>Mathies (1972)</a> in which the skeletal changes were typical of cartilage-hair hypoplasia (<a href="/entry/250250">250250</a>) including 'metaphyseal dysostosis' by x-ray, excessively long fibulas, Harrison grooves, etc. The hair was light in color and required cutting less often than one would expect but its caliber appeared normal. All 3 children were affected. The oldest had secondary vaccinia after routine vaccination and was reported by <a href="#6" class="mim-tip-reference" title="Fulginiti, V. A., Kempe, C. H., Hathaway, W. E., Pearlman, D. S., Sieber, O. F., Jr., Eller, J. J., Joyner, J. J., Robinson, A. <strong>Immunologic Deficiency Diseases in Man.</strong> Birth Defects Orig. Art. Ser. IV(1): 129-151, 1968."None>Fulginiti et al. (1968)</a>--see their case M.N., p. 135. Main laboratory findings are lymphopenia, agammaglobulinemia, and, by x-ray, thymic hypoplasia. These findings and the clinical course are similar to those in severe combined immunodeficiency (see <a href="/entry/601457">601457</a>). <a href="#12" class="mim-tip-reference" title="McKusick, V. A. <strong>Personal Communication.</strong> Baltimore, Md. 1972."None>McKusick (1972)</a> noted that some patients with severe combined immunodeficiency and short-limb skeletal dysplasia had been found to have deficiency of adenosine deaminase (see <a href="/entry/102700">102700</a>).</p><p><a href="#8" class="mim-tip-reference" title="MacDermot, K. D., Winter, R. M., Wigglesworth, J. S., Strobel, S. <strong>Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.</strong> J. Med. Genet. 28: 10-17, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999827</a>] [<a href="https://doi.org/10.1136/jmg.28.1.10" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1999827">MacDermot et al. (1991)</a> reported 2 unrelated patients with severe combined immunodeficiency and early lethal short-limb skeletal dysplasia. These 2 patients did not have determinations of adenosine deaminase, nor did the cases of severe skeletal dysplasia in association with SCID previously reported. <a href="#8" class="mim-tip-reference" title="MacDermot, K. D., Winter, R. M., Wigglesworth, J. S., Strobel, S. <strong>Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.</strong> J. Med. Genet. 28: 10-17, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999827</a>] [<a href="https://doi.org/10.1136/jmg.28.1.10" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1999827">MacDermot et al. (1991)</a> noted that the metaphyseal abnormalities have been mild in cases of SCID with ADA deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1999827" 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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Alexander, W. J., Dunbar, J. S.
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<strong>Unusual bone changes in thymic alymphoplasia.</strong>
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Ann. Radiol. 11: 389-394, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5678781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5678781</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5678781" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ammann, A. J., Sutliff, W., Millinchick, E.
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<strong>Antibody-mediated immunodeficiency in short-limbed dwarfism.</strong>
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J. Pediat. 84: 200-203, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4810726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4810726</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4810726" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(74)80601-3" target="_blank">Full Text</a>]
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<strong>A case of Swiss-type agammaglobulinaemia and achondroplasia.</strong>
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Brit. Med. J. 2: 1371-1374, 1966.
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Davis, J. A.
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<strong>Swiss-type agammaglobulinaemia and achondroplasia. (Letter)</strong>
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Brit. Med. J. 3: 110 only, 1967.
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Fulginiti, V. A., Hathaway, W. E., Pearlman, D. S., Kempe, C. H.
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<strong>Agammaglobulinaemia and achondroplasia. (Letter)</strong>
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Brit. Med. J. 2: 242 only, 1967.
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Fulginiti, V. A., Kempe, C. H., Hathaway, W. E., Pearlman, D. S., Sieber, O. F., Jr., Eller, J. J., Joyner, J. J., Robinson, A.
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<strong>Immunologic Deficiency Diseases in Man.</strong>
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Birth Defects Orig. Art. Ser. IV(1): 129-151, 1968.
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Gatti, R. A., Platt, N., Pomerance, H. H., Hong, R., Langer, L. O., Kay, H. E. M., Good, R. A.
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<strong>Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia.</strong>
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J. Pediat. 75: 675-684, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5809843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5809843</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5809843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(69)80465-8" target="_blank">Full Text</a>]
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MacDermot, K. D., Winter, R. M., Wigglesworth, J. S., Strobel, S.
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<strong>Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.</strong>
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J. Med. Genet. 28: 10-17, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999827</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1999827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Mandi, B., Hadhazy, C., Mandi, A., Glant, T.
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<strong>Effect of postnatal thymectomy on enchondral ossification.</strong>
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<strong>Ataxia-telangiectasia and Swiss-type agammaglobulinemia: Two genetic disorders of the immune mechanisms in related Amish sibships.</strong>
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JAMA 195: 739-745, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5951879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5951879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5951879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Thymic dysplasia associated with dyschondroplasia in an infant.</strong>
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Am. J. Dis. Child. 123: 240-244, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5026207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5026207</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5026207" 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/10.1001/archpedi.1972.02110090110017" target="_blank">Full Text</a>]
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Victor A. McKusick : 6/2/1986
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carol : 03/24/2022<br>carol : 06/02/2011<br>terry : 6/3/2009<br>mgross : 2/23/2009<br>carol : 10/27/2004<br>mimadm : 11/12/1995<br>carol : 11/20/1992<br>supermim : 3/16/1992<br>carol : 3/12/1991<br>carol : 2/15/1991<br>supermim : 3/20/1990
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SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY
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SLSD WITH SCID<br />
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<strong>SNOMEDCT:</strong> 789777007;
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<strong>ORPHA:</strong> 935;
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<p>McKusick and Cross (1966) described an Amish infant with 'Swiss agammaglobulinemia' (severe combined immunodeficiency) and a form of skeletal dysplasia similar to achondroplasia who died in early infancy. </p><p>Davis (1967) stated that at least 5 such cases were known to him. The case he personally described was a female infant whose parents were Jewish but not known to be related. The child died at 2 months of age.</p><p>Gatti et al. (1969) described affected brother and sister who also had ectodermal dysplasia. They suggested that other cases had been reported by McKusick and Cross (1966), Davis (1966), Fulginiti et al. (1967), and Alexander and Dunbar (1968). Say et al. (1972) reported 2 affected Turkish sibs. The skeletal dysplasia in these cases may be best classified as a metaphyseal chondrodysplasia. </p><p>McKusick (1972) described a family studied by Mathies (1972) in which the skeletal changes were typical of cartilage-hair hypoplasia (250250) including 'metaphyseal dysostosis' by x-ray, excessively long fibulas, Harrison grooves, etc. The hair was light in color and required cutting less often than one would expect but its caliber appeared normal. All 3 children were affected. The oldest had secondary vaccinia after routine vaccination and was reported by Fulginiti et al. (1968)--see their case M.N., p. 135. Main laboratory findings are lymphopenia, agammaglobulinemia, and, by x-ray, thymic hypoplasia. These findings and the clinical course are similar to those in severe combined immunodeficiency (see 601457). McKusick (1972) noted that some patients with severe combined immunodeficiency and short-limb skeletal dysplasia had been found to have deficiency of adenosine deaminase (see 102700).</p><p>MacDermot et al. (1991) reported 2 unrelated patients with severe combined immunodeficiency and early lethal short-limb skeletal dysplasia. These 2 patients did not have determinations of adenosine deaminase, nor did the cases of severe skeletal dysplasia in association with SCID previously reported. MacDermot et al. (1991) noted that the metaphyseal abnormalities have been mild in cases of SCID with ADA deficiency. </p>
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<p>Mandi et al. (1971) found a profound disturbance in endochondral ossification in albino rats thymectomized 36 to 48 hours after birth. Other manifestations of runting were present.</p>
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<span class="mim-text-font">
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Ammann et al. (1974)
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Alexander, W. J., Dunbar, J. S.
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<strong>Unusual bone changes in thymic alymphoplasia.</strong>
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Ann. Radiol. 11: 389-394, 1968.
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[PubMed: 5678781]
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Ammann, A. J., Sutliff, W., Millinchick, E.
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<strong>Antibody-mediated immunodeficiency in short-limbed dwarfism.</strong>
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J. Pediat. 84: 200-203, 1974.
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[PubMed: 4810726]
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[Full Text: https://doi.org/10.1016/s0022-3476(74)80601-3]
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Davis, J. A.
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<strong>A case of Swiss-type agammaglobulinaemia and achondroplasia.</strong>
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Brit. Med. J. 2: 1371-1374, 1966.
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Davis, J. A.
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<strong>Swiss-type agammaglobulinaemia and achondroplasia. (Letter)</strong>
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Brit. Med. J. 3: 110 only, 1967.
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Fulginiti, V. A., Hathaway, W. E., Pearlman, D. S., Kempe, C. H.
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<strong>Agammaglobulinaemia and achondroplasia. (Letter)</strong>
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Brit. Med. J. 2: 242 only, 1967.
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Fulginiti, V. A., Kempe, C. H., Hathaway, W. E., Pearlman, D. S., Sieber, O. F., Jr., Eller, J. J., Joyner, J. J., Robinson, A.
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<strong>Immunologic Deficiency Diseases in Man.</strong>
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Birth Defects Orig. Art. Ser. IV(1): 129-151, 1968.
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Gatti, R. A., Platt, N., Pomerance, H. H., Hong, R., Langer, L. O., Kay, H. E. M., Good, R. A.
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<strong>Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia.</strong>
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J. Pediat. 75: 675-684, 1969.
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[PubMed: 5809843]
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[Full Text: https://doi.org/10.1016/s0022-3476(69)80465-8]
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MacDermot, K. D., Winter, R. M., Wigglesworth, J. S., Strobel, S.
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<strong>Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.</strong>
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J. Med. Genet. 28: 10-17, 1991.
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[PubMed: 1999827]
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[Full Text: https://doi.org/10.1136/jmg.28.1.10]
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Mandi, B., Hadhazy, C., Mandi, A., Glant, T.
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<strong>Effect of postnatal thymectomy on enchondral ossification.</strong>
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Acta Morph. Acad. Sci. Hung. 19: 259-268, 1971.
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Mathies, A. W.
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<strong>Personal Communication.</strong>
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Los Angeles, Calif. 1972.
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McKusick, V. A., Cross, H. E.
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<strong>Ataxia-telangiectasia and Swiss-type agammaglobulinemia: Two genetic disorders of the immune mechanisms in related Amish sibships.</strong>
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JAMA 195: 739-745, 1966.
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[PubMed: 5951879]
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[Full Text: https://doi.org/10.1001/jama.195.9.739]
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McKusick, V. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1972.
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Say, B., Tinaztepe, B., Tinaztepe, K.
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<strong>Thymic dysplasia associated with dyschondroplasia in an infant.</strong>
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Am. J. Dis. Child. 123: 240-244, 1972.
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[PubMed: 5026207]
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[Full Text: https://doi.org/10.1001/archpedi.1972.02110090110017]
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Victor A. McKusick : 6/2/1986
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carol : 03/28/2022<br>carol : 03/24/2022<br>carol : 06/02/2011<br>terry : 6/3/2009<br>mgross : 2/23/2009<br>carol : 10/27/2004<br>mimadm : 11/12/1995<br>carol : 11/20/1992<br>supermim : 3/16/1992<br>carol : 3/12/1991<br>carol : 2/15/1991<br>supermim : 3/20/1990
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