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Entry
- #300636 - IMMUNODEFICIENCY 33; IMD33
- OMIM
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<span class="h4">#300636</span>
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<strong>Table of Contents</strong>
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<li role="presentation">
<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
<a href="/clinicalSynopsis/300636"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
<a href="/phenotypicSeries/PS300755"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalManagement">Clinical Management</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21681&Typ=Pat" title="X-linked mendelian susceptibility to mycobacterial diseases" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">X-linked mendelian suscept…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21682&Typ=Pat" title="X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">X-linked mendelian suscept…&nbsp;</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319605" title="X-linked mendelian susceptibility to mycobacterial diseases" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">X-linked mendelian suscept…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319612" title="X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">X-linked mendelian suscept…</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0112003" 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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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 319605, 319612<br />
<strong>DO:</strong> 0112003<br />
">ICD+</a>
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<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
300636
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<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
IMMUNODEFICIENCY 33; IMD33
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2, FORMERLY; IPD2, FORMERLY
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<br />
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
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<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/871?start=-3&limit=10&highlight=871">
Xq28
</a>
</span>
</td>
<td>
<span class="mim-font">
Immunodeficiency 33
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300636"> 300636 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
<td>
<span class="mim-font">
IKBKG
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300248"> 300248 </a>
</span>
</td>
</tr>
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<li><a href="/graph/linear/300636" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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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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<div class="small" style="margin: 5px">
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<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
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<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
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<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Delayed eruption of teeth (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5639000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5639000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</a>]</span><br /> -
Conical teeth (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29553002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29553002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162597008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162597008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266037&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266037</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006342" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006342</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000698" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000698</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000698" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000698</a>]</span><br /> -
Hypodontia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> IMMUNOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Recurrent infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/451991000124106" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">451991000124106</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239998&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239998</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span><br /> -
Variably impaired immunologic function <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5394638&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5394638</a>]</span><br /> -
Dysgammaglobulinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123782009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123782009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013374&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013374</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002961" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002961</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002961" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002961</a>]</span><br /> -
Increased IgM (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239990</a>]</span><br /> -
Hypogammaglobulinemia <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>]</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=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>]</span> <span class="mim-feature-ids hidden">[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>]</span><br /> -
Aberrant IgG and IgA <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393255</a>]</span><br /> -
Poor class-switching in B cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393256&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393256</a>]</span><br /> -
Poor response to vaccination, particularly to pneumococcus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393257&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393257</a>]</span><br /> -
T-cell dysfunction (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860127&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860127</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005435" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005435</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005435" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005435</a>]</span><br /> -
Normal immunologic parameters (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393258&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393258</a>]</span><br /> -
Susceptibility to disseminated mycobacterial infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315619&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315619</a>]</span><br /> -
Susceptibility to pneumococcus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393259&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393259</a>]</span><br /> -
Susceptibility to H. influenza <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393260</a>]</span><br /> -
Impaired cytokine production, including IL6, IL12, and gamma-interferon <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393261&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393261</a>]</span><br /> -
Impaired response to IL1B and TNFA <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393262&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393262</a>]</span><br /> -
Impaired NK cytotoxic function <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393263</a>]</span><br /> -
Decreased activation of the NFKB signaling pathway <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393265</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset usually in infancy or early childhood<br /> -
Highly variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866862</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
Laboratory abnormalities may be subtle and may change over time<br /> -
Treatment with IVIg is beneficial<br /> -
Carrier mothers may have conical teeth or hypodontia<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the inhibitor of nuclear factor kappa B kinase, regulatory subunit gamma gene (IKBKG, <a href="/entry/300248#0018">300248.0018</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Immunodeficiency (select examples)
- <a href="/phenotypicSeries/PS300755">PS300755</a>
- 143 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/25?start=-3&limit=10&highlight=25"> 1p36.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616126"> Immunodeficiency 38 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/616126"> 616126 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147571"> ISG15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147571"> 147571 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/31?start=-3&limit=10&highlight=31"> 1p36.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615593"> ?Immunodeficiency 16 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615593"> 615593 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600315"> TNFRSF4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600315"> 600315 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/114?start=-3&limit=10&highlight=114"> 1p36.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620282"> Immunodeficiency 109 with lymphoproliferation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/620282"> 620282 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602250"> TNFRSF9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602250"> 602250 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/128?start=-3&limit=10&highlight=128"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619281"> Immunodeficiency 14B, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619281"> 619281 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602839"> PIK3CD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602839"> 602839 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/128?start=-3&limit=10&highlight=128"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615513"> Immunodeficiency 14A, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/615513"> 615513 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602839"> PIK3CD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602839"> 602839 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/397?start=-3&limit=10&highlight=397"> 1p35.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615758"> Immunodeficiency 22 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615758"> 615758 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/153390"> LCK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/153390"> 153390 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/497?start=-3&limit=10&highlight=497"> 1p34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615897"> Immunodeficiency 24 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615897"> 615897 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123860"> CTPS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123860"> 123860 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/763?start=-3&limit=10&highlight=763"> 1p22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616098"> ?Immunodeficiency 37 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/616098"> 616098 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603517"> BCL10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603517"> 603517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1109?start=-3&limit=10&highlight=1109"> 1q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616622"> Immunodeficiency 42 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/616622"> 616622 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602943"> RORC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602943"> 602943 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1353?start=-3&limit=10&highlight=1353"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615707"> Immunodeficiency 20 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615707"> 615707 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146740"> FCGR3A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146740"> 146740 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1386?start=-3&limit=10&highlight=1386"> 1q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610163"> ?Immunodeficiency 25 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/610163"> 610163 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186780"> CD247 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186780"> 186780 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1491?start=-3&limit=10&highlight=1491"> 1q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620565"> Immunodeficiency 113 with autoimmunity and autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/620565"> 620565 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604227"> ARPC5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604227"> 604227 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1501?start=-3&limit=10&highlight=1501"> 1q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618969"> Immunodeficiency 70 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/618969"> 618969 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609209"> IVNS1ABP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609209"> 609209 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1541?start=-3&limit=10&highlight=1541"> 1q31.3-q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619924"> Immunodeficiency 105, severe combined </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619924"> 619924 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/151460"> PTPRC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/151460"> 151460 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/277?start=-3&limit=10&highlight=277"> 2p16.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619652"> Immunodeficiency 92 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619652"> 619652 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164910"> REL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164910"> 164910 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/446?start=-3&limit=10&highlight=446"> 2p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608957"> Immunodeficiency 116 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/608957"> 608957 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186910"> CD8A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186910"> 186910 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/491?start=-3&limit=10&highlight=491"> 2q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/269840"> Immunodeficiency 48 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/269840"> 269840 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176947"> ZAP70 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176947"> 176947 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/727?start=-3&limit=10&highlight=727"> 2q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619773"> Immunodeficiency 95 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619773"> 619773 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606951"> IFIH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606951"> 606951 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/872?start=-3&limit=10&highlight=872"> 2q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613796"> Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/613796"> 613796 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> STAT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> 600555 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/872?start=-3&limit=10&highlight=872"> 2q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614162"> Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/614162"> 614162 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> STAT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> 600555 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/872?start=-3&limit=10&highlight=872"> 2q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614892"> Immunodeficiency 31A, mycobacteriosis, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/614892"> 614892 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> STAT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> 600555 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/933?start=-3&limit=10&highlight=933"> 2q33.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620901"> ?Immunodeficiency 123 with HPV-related verrucosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/620901"> 620901 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186760"> CD28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186760"> 186760 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1028?start=-3&limit=10&highlight=1028"> 2q35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611291"> Immunodeficiency 124, severe combined </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/611291"> 611291 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611290"> NHEJ1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611290"> 611290 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/174?start=-3&limit=10&highlight=174"> 3p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612260"> Immunodeficiency 68 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/612260"> 612260 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602170"> MYD88 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602170"> 602170 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/651?start=-3&limit=10&highlight=651"> 3q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614172"> Immunodeficiency 21 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/614172"> 614172 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137295"> GATA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137295"> 137295 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/659?start=-3&limit=10&highlight=659"> 3q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620983"> ?Immunodeficiency 128 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/620983"> 620983 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615525"> COPG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615525"> 615525 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/990?start=-3&limit=10&highlight=990"> 3q29 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616740"> Immunodeficiency 46 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/616740"> 616740 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190010"> TFRC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190010"> 190010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/167?start=-3&limit=10&highlight=167"> 4p14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618307"> Immunodeficiency 129 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/618307"> 618307 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602037"> RHOH </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602037"> 602037 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/458?start=-3&limit=10&highlight=458"> 4q24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619126"> Immunodeficiency 75 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619126"> 619126 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612839"> TET2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612839"> 612839 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/723?start=-3&limit=10&highlight=723"> 4q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613002"> {Immunodeficiency 83, susceptibility to viral infections} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/613002"> 613002 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603029"> TLR3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603029"> 603029 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/59?start=-3&limit=10&highlight=59"> 5p15.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619986"> {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/619986"> 619986 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615712"> OTULIN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615712"> 615712 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/106?start=-3&limit=10&highlight=106"> 5p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608971"> Immunodeficiency 104, severe combined </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/608971"> 608971 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146661"> IL7R </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146661"> 146661 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/177?start=-3&limit=10&highlight=177"> 5q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619750"> ?Immunodeficiency 94 with autoinflammation and dysmorphic facies </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/619750"> 619750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600694"> IL6ST </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600694"> 600694 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/218?start=-3&limit=10&highlight=218"> 5q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616005"> Immunodeficiency 36 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/616005"> 616005 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/171833"> PIK3R1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/171833"> 171833 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/440?start=-3&limit=10&highlight=440"> 5q31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619705"> Immunodeficiency 93 and hypertrophic cardiomyopathy </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619705"> 619705 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610594"> FNIP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610594"> 610594 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/449?start=-3&limit=10&highlight=449"> 5q31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620668"> Immunodeficiency 117, mycobacteriosis, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/620668"> 620668 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147575"> IRF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147575"> 147575 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/721?start=-3&limit=10&highlight=721"> 5q33.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614890"> Immunodeficiency 29, mycobacteriosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/614890"> 614890 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/161561"> IL12B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/161561"> 161561 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/750?start=-3&limit=10&highlight=750"> 5q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616433"> Immunodeficiency 40 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/616433"> 616433 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603122"> DOCK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603122"> 603122 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/752?start=-3&limit=10&highlight=752"> 5q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619374"> Immunodeficiency 81 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619374"> 619374 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601603"> LCP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601603"> 601603 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/7?start=-3&limit=10&highlight=7"> 6p25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621097"> Immunodeficiency 131 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/621097"> 621097 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601900"> IRF4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601900"> 601900 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/20?start=-3&limit=10&highlight=20"> 6p25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618108"> Immunodeficiency 57 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/618108"> 618108 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603453"> RIPK1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603453"> 603453 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/311?start=-3&limit=10&highlight=311"> 6p21.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620977"> ?Immunodeficiency 127 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/620977"> 620977 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191160"> TNF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191160"> 191160 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/425?start=-3&limit=10&highlight=425"> 6p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619573"> Immunodeficiency 87 and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619573"> 619573 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610094"> DEF6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610094"> 610094 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/506?start=-3&limit=10&highlight=506"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620931"> Immunodeficiency 126 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/620931"> 620931 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606817"> PTCRA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606817"> 606817 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/675?start=-3&limit=10&highlight=675"> 6q14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615816"> Immunodeficiency 23 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615816"> 615816 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172100"> PGM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172100"> 172100 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/710?start=-3&limit=10&highlight=710"> 6q15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618394"> Immunodeficiency 60 and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/618394"> 618394 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605394"> BACH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605394"> 605394 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/893?start=-3&limit=10&highlight=893"> 6q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615978"> Immunodeficiency 27B, mycobacteriosis, AD </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/615978"> 615978 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107470"> IFNGR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107470"> 107470 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/893?start=-3&limit=10&highlight=893"> 6q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/209950"> Immunodeficiency 27A, mycobacteriosis, AR </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/209950"> 209950 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107470"> IFNGR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107470"> 107470 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/33?start=-3&limit=10&highlight=33"> 7p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615206"> Immunodeficiency 11A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615206"> 615206 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607210"> CARD11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607210"> 607210 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/33?start=-3&limit=10&highlight=33"> 7p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617638"> Immunodeficiency 11B with atopic dermatitis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/617638"> 617638 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607210"> CARD11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607210"> 607210 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/461?start=-3&limit=10&highlight=461"> 7q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617718"> Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/617718"> 617718 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604223"> ARPC1B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604223"> 604223 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/571?start=-3&limit=10&highlight=571"> 7q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619802"> Immunodeficiency 97 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619802"> 619802 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601232"> PIK3CG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601232"> 601232 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/232?start=-3&limit=10&highlight=232"> 8p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615592"> Immunodeficiency 15B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615592"> 615592 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603258"> IKBKB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603258"> 603258 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/232?start=-3&limit=10&highlight=232"> 8p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618204"> Immunodeficiency 15A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/618204"> 618204 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603258"> IKBKB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603258"> 603258 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/253?start=-3&limit=10&highlight=253"> 8q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615966"> Immunodeficiency 26, with or without neurologic abnormalities </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615966"> 615966 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600899"> PRKDC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600899"> 600899 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/254?start=-3&limit=10&highlight=254"> 8q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609981"> Immunodeficiency 54 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/609981"> 609981 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602638"> MCM4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602638"> 602638 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/358?start=-3&limit=10&highlight=358"> 8q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618309"> Immunodeficiency 130 with HPV-related verrucosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/618309"> 618309 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146660"> IL7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146660"> 146660 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/297?start=-3&limit=10&highlight=297"> 9q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619381"> Immunodeficiency 82 with systemic inflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/619381"> 619381 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600085"> SYK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600085"> 600085 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/650?start=-3&limit=10&highlight=650"> 9q34.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212050"> Immunodeficiency 103, susceptibility to fungal infection </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/212050"> 212050 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607212"> CARD9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607212"> 607212 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/35?start=-3&limit=10&highlight=35"> 10p15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606367"> Immunodeficiency 41 with lymphoproliferation and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/606367"> 606367 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147730"> IL2RA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147730"> 147730 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/62?start=-3&limit=10&highlight=62"> 10p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619313"> Immunodeficiency 80 with or without cardiomyopathy </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619313"> 619313 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609357"> MCM10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609357"> 609357 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/33?start=-3&limit=10&highlight=33"> 11p15.5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616345"> ?Immunodeficiency 39 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/616345"> 616345 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605047"> IRF7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605047"> 605047 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/103?start=-3&limit=10&highlight=103"> 11p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612783"> Immunodeficiency 10 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/612783"> 612783 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605921"> STIM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605921"> 605921 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/415?start=-3&limit=10&highlight=415"> 11q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619223"> Immunodeficiency 77 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/619223"> 619223 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610390"> MPEG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610390"> 610390 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/703?start=-3&limit=10&highlight=703"> 11q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613759"> Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/613759"> 613759 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602457"> FADD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602457"> 602457 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/748?start=-3&limit=10&highlight=748"> 11q13.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620869"> Immunodeficiency 122 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/620869"> 620869 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611415"> POLD3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611415"> 611415 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/981?start=-3&limit=10&highlight=981"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615615"> Immunodeficiency 18, SCID variant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615615"> 615615 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186830"> CD3E </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186830"> 186830 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/981?start=-3&limit=10&highlight=981"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615615"> Immunodeficiency 18 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615615"> 615615 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186830"> CD3E </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186830"> 186830 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/982?start=-3&limit=10&highlight=982"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615617"> Immunodeficiency 19, severe combined </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615617"> 615617 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186790"> CD3D </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186790"> 186790 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/983?start=-3&limit=10&highlight=983"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615607"> Immunodeficiency 17, CD3 gamma deficient </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615607"> 615607 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186740"> CD3G </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186740"> 186740 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1002?start=-3&limit=10&highlight=1002"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/233600"> ?Immunodeficiency 59 and hypoglycemia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/233600"> 233600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601746"> HYOU1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601746"> 601746 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/70?start=-3&limit=10&highlight=70"> 12p13.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619238"> Immunodeficiency 79 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619238"> 619238 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186940"> CD4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186940"> 186940 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/300?start=-3&limit=10&highlight=300"> 12q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607676"> Immunodeficiency 67 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/607676"> 607676 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606883"> IRAK4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606883"> 606883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/470?start=-3&limit=10&highlight=470"> 12q13.13-q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618982"> Immunodeficiency 72 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/618982"> 618982 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/141180"> NCKAP1L </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/141180"> 141180 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/512?start=-3&limit=10&highlight=512"> 12q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616636"> Immunodeficiency 44 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/616636"> 616636 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600556"> STAT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600556"> 600556 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/598?start=-3&limit=10&highlight=598"> 12q15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618963"> ?Immunodeficiency 69, mycobacteriosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/618963"> 618963 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147570"> IFNG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147570"> 147570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/825?start=-3&limit=10&highlight=825"> 12q24.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618042"> Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/618042"> 618042 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164350"> OAS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164350"> 164350 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/895?start=-3&limit=10&highlight=895"> 12q24.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612782"> Immunodeficiency 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/612782"> 612782 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610277"> ORAI1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610277"> 610277 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/294?start=-3&limit=10&highlight=294"> 13q33.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619220"> Immunodeficiency 78 with autoimmunity and developmental delay </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619220"> 619220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190470"> TPP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190470"> 190470 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/61?start=-3&limit=10&highlight=61"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615387"> Immunodeficiency 7, TCR-alpha/beta deficient </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615387"> 615387 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186880"> TRAC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186880"> 186880 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/79?start=-3&limit=10&highlight=79"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/260570"> ?Immunodeficiency 108 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/260570"> 260570 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600749"> CEBPE </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600749"> 600749 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/116?start=-3&limit=10&highlight=116"> 14q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620632"> Immunodeficiency 115 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/620632"> 620632 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612487"> RNF31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612487"> 612487 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/117?start=-3&limit=10&highlight=117"> 14q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618648"> Immunodeficiency 65, susceptibility to viral infections </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/618648"> 618648 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147574"> IRF9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147574"> 147574 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/515?start=-3&limit=10&highlight=515"> 14q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617237"> Immunodeficiency 49, severe combined </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/617237"> 617237 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606558"> BCL11B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606558"> 606558 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/567?start=-3&limit=10&highlight=567"> 14q32.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614849"> Immunodeficiency 132A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/614849"> 614849 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601896"> TRAF3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601896"> 601896 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/567?start=-3&limit=10&highlight=567"> 14q32.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621096"> Immunodeficiency 132B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/621096"> 621096 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601896"> TRAF3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601896"> 601896 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/85?start=-3&limit=10&highlight=85"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618534"> Immunodeficiency 64 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/618534"> 618534 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603962"> RASGRP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603962"> 603962 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/170?start=-3&limit=10&highlight=170"> 15q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/241600"> Immunodeficiency 43 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/241600"> 241600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/109700"> B2M </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/109700"> 109700 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/209?start=-3&limit=10&highlight=209"> 15q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619549"> Immunodeficiency 86, mycobacteriosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619549"> 619549 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608238"> SPPL2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608238"> 608238 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/295?start=-3&limit=10&highlight=295"> 16p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615207"> Immunodeficiency 56 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615207"> 615207 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605383"> IL21R </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605383"> 605383 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/321?start=-3&limit=10&highlight=321"> 16p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617514"> Immunodeficiency 52 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/617514"> 617514 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602354"> LAT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602354"> 602354 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/348?start=-3&limit=10&highlight=348"> 16p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615401"> Immunodeficiency 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615401"> 615401 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605000"> CORO1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605000"> 605000 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/553?start=-3&limit=10&highlight=553"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618131"> Immunodeficiency 58 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/618131"> 618131 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610859"> CARMIL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610859"> 610859 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/566?start=-3&limit=10&highlight=566"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620807"> Immunodeficiency 121 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/620807"> 620807 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176847"> PSMB10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176847"> 176847 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/711?start=-3&limit=10&highlight=711"> 16q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614893"> Immunodeficiency 32A, mycobacteriosis, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/614893"> 614893 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601565"> IRF8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601565"> 601565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/711?start=-3&limit=10&highlight=711"> 16q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/226990"> Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/226990"> 226990 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601565"> IRF8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601565"> 601565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/340?start=-3&limit=10&highlight=340"> 17q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615518"> ?Immunodeficiency 13 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/615518"> 615518 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604011"> UNC119 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604011"> 604011 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/494?start=-3&limit=10&highlight=494"> 17q12-q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619437"> ?Immunodeficiency 84 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/619437"> 619437 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606221"> IKZF3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606221"> 606221 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/658?start=-3&limit=10&highlight=658"> 17q21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620449"> Immunodeficiency 112 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/620449"> 620449 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604655"> MAP3K14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604655"> 604655 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/678?start=-3&limit=10&highlight=678"> 17q21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619630"> ?Immunodeficiency 88 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619630"> 619630 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604895"> TBX21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604895"> 604895 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/212?start=-3&limit=10&highlight=212"> 18q21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615468"> Immunodeficiency 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/615468"> 615468 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604860"> MALT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604860"> 604860 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/145?start=-3&limit=10&highlight=145"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620331"> Hatipoglu immunodeficiency syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/620331"> 620331 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608258"> DPP9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608258"> 608258 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/270?start=-3&limit=10&highlight=270"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611521"> Immunodeficiency 35 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/611521"> 611521 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176941"> TYK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176941"> 176941 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/444?start=-3&limit=10&highlight=444"> 19p13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619164"> Immunodeficiency 76 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619164"> 619164 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613437"> FCHO1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613437"> 613437 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/451?start=-3&limit=10&highlight=451"> 19p13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614891"> Immunodeficiency 30 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/614891"> 614891 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601604"> IL12RB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601604"> 601604 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/743?start=-3&limit=10&highlight=743"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618459"> ?Immunodeficiency 62 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/618459"> 618459 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601855"> ARHGEF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601855"> 601855 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/808?start=-3&limit=10&highlight=808"> 19q13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617585"> ?Immunodeficiency 53 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/617585"> 617585 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604758"> RELB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604758"> 604758 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/888?start=-3&limit=10&highlight=888"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619774"> Immunodeficiency 96 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619774"> 619774 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/126391"> LIG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/126391"> 126391 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/947?start=-3&limit=10&highlight=947"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620926"> ?Immunodeficiency 125 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/620926"> 620926 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600007"> FLT3LG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600007"> 600007 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/981?start=-3&limit=10&highlight=981"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620836"> Immunodeficiency 120 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/620836"> 620836 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/174761"> POLD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/174761"> 174761 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/124?start=-3&limit=10&highlight=124"> 20p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619872"> ?Immunodeficiency 101 (varicella zoster virus-specific) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/619872"> 619872 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617455"> POLR3F </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617455"> 617455 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/169?start=-3&limit=10&highlight=169"> 20p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617827"> Immunodeficiency 55 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/617827"> 617827 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610608"> GINS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610608"> 610608 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/271?start=-3&limit=10&highlight=271"> 20q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619846"> ?Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619846"> 619846 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611537"> CTNNBL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611537"> 611537 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/321?start=-3&limit=10&highlight=321"> 20q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614868"> T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/614868"> 614868 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604965"> STK4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604965"> 604965 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/373?start=-3&limit=10&highlight=373"> 20q13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619644"> Immunodeficiency 91 and hyperinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619644"> 619644 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618931"> ZNFX1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618931"> 618931 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/66?start=-3&limit=10&highlight=66"> 21q22.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616669"> Immunodeficiency 45 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/616669"> 616669 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602376"> IFNAR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602376"> 602376 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/68?start=-3&limit=10&highlight=68"> 21q22.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619935"> Immunodeficiency 106, susceptibility to viral infections </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619935"> 619935 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107450"> IFNAR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107450"> 107450 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/69?start=-3&limit=10&highlight=69"> 21q22.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614889"> Immunodeficiency 28, mycobacteriosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/614889"> 614889 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147569"> IFNGR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147569"> 147569 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/155?start=-3&limit=10&highlight=155"> 21q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620825"> ?Immunodeficiency 119 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/620825"> 620825 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605717"> ICOSLG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605717"> 605717 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/172?start=-3&limit=10&highlight=172"> 21q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620603"> Immunodeficiency 114, folate-responsive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/620603"> 620603 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600424"> SLC19A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600424"> 600424 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/9?start=-3&limit=10&highlight=9"> 22q11.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613953"> Immunodeficiency 51 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/613953"> 613953 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605461"> IL17RA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605461"> 605461 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/210?start=-3&limit=10&highlight=210"> 22q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619510"> ?Immunodeficiency 85 and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/619510"> 619510 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604700"> TOM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604700"> 604700 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/236?start=-3&limit=10&highlight=236"> 22q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618495"> Immunodeficiency 63 with lymphoproliferation and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/618495"> 618495 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146710"> IL2RB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146710"> 146710 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/243?start=-3&limit=10&highlight=243"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618987"> ?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/618987"> 618987 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> RAC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> 602049 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/243?start=-3&limit=10&highlight=243"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618986"> Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/618986"> 618986 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> RAC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> 602049 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/243?start=-3&limit=10&highlight=243"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608203"> Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
<td>
<span class="mim-font">
<a href="/entry/608203"> 608203 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> RAC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> 602049 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/247?start=-3&limit=10&highlight=247"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619632"> ?Immunodeficiency 89 and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/619632"> 619632 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607209"> CARD10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607209"> 607209 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/308?start=-3&limit=10&highlight=308"> 22q13.1-q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618847"> ?Immunodeficiency 66 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
<td>
<span class="mim-font">
<a href="/entry/618847"> 618847 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606078"> MKL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606078"> 606078 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/61?start=-3&limit=10&highlight=61"> Xp22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301051"> Immunodeficiency 74, COVID19-related, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
<td>
<span class="mim-font">
<a href="/entry/301051"> 301051 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300365"> TLR7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300365"> 300365 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/62?start=-3&limit=10&highlight=62"> Xp22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301078"> Immunodeficiency 98 with autoinflammation, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Somatic mosaicism">SMo</abbr>, <abbr class="mim-tip-hint" title="X-linked">XL</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>
<td>
<span class="mim-font">
<a href="/entry/301078"> 301078 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300366"> TLR8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300366"> 300366 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/106?start=-3&limit=10&highlight=106"> Xp22.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300310"> ?Immunodeficiency 61 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
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<span class="mim-font">
<a href="/entry/300310"> 300310 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/300374"> SH3KBP1 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/300374"> 300374 </a>
</span>
</td>
</tr>
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<td>
<span class="mim-font">
<a href="/geneMap/X/157?start=-3&limit=10&highlight=157"> Xp21.1-p11.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300645"> Immunodeficiency 34, mycobacteriosis, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
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<span class="mim-font">
<a href="/entry/300645"> 300645 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/300481"> CYBB </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/300481"> 300481 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/253?start=-3&limit=10&highlight=253"> Xp11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301000"> Wiskott-Aldrich syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
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</td>
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<span class="mim-font">
<a href="/entry/301000"> 301000 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/300392"> WAS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300392"> 300392 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/373?start=-3&limit=10&highlight=373"> Xq12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300988"> Immunodeficiency 50 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
<td>
<span class="mim-font">
<a href="/entry/300988"> 300988 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/309845"> MSN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/309845"> 309845 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/403?start=-3&limit=10&highlight=403"> Xq13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300400"> Severe combined immunodeficiency, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
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</td>
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<span class="mim-font">
<a href="/entry/300400"> 300400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308380"> IL2RG </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/308380"> 308380 </a>
</span>
</td>
</tr>
<tr>
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<span class="mim-font">
<a href="/geneMap/X/403?start=-3&limit=10&highlight=403"> Xq13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312863"> Combined immunodeficiency, X-linked, moderate </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
<td>
<span class="mim-font">
<a href="/entry/312863"> 312863 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308380"> IL2RG </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/308380"> 308380 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/500?start=-3&limit=10&highlight=500"> Xq22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300755"> Agammaglobulinemia, X-linked 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
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<span class="mim-font">
<a href="/entry/300755"> 300755 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300300"> BTK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300300"> 300300 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/629?start=-3&limit=10&highlight=629"> Xq24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301115"> Immunodeficiency 118, mycobacteriosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
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<span class="mim-font">
<a href="/entry/301115"> 301115 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300587"> MCTS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300587"> 300587 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/655?start=-3&limit=10&highlight=655"> Xq25 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308240"> Lymphoproliferative syndrome, X-linked, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
<td>
<span class="mim-font">
<a href="/entry/308240"> 308240 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300490"> SH2D1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300490"> 300490 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/670?start=-3&limit=10&highlight=670"> Xq26.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301082"> Immunodeficiency 102 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
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<span class="mim-font">
<a href="/entry/301082"> 301082 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300441"> SASH3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300441"> 300441 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/724?start=-3&limit=10&highlight=724"> Xq26.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308230"> Immunodeficiency, X-linked, with hyper-IgM </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
<td>
<span class="mim-font">
<a href="/entry/308230"> 308230 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300386"> TNFSF5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300386"> 300386 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/862?start=-3&limit=10&highlight=862"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300972"> Immunodeficiency 47 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
<td>
<span class="mim-font">
<a href="/entry/300972"> 300972 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300197"> ATP6AP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300197"> 300197 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/871?start=-3&limit=10&highlight=871"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300636"> Immunodeficiency 33 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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>
<td>
<span class="mim-font">
<a href="/entry/300636"> 300636 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300248"> IKBKG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300248"> 300248 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that immunodeficiency-33 (IMD33) is caused by hemizygous mutation in the gene encoding NF-kappa-B essential modulator (NEMO, or IKBKG; <a href="/entry/300248">300248</a>) on chromosome Xq28.</p><p>Hemizygous mutation in the IKBKG gene can also cause the X-linked recessive disorder ectodermal dysplasia and immunodeficiency-1 (EDAID1; <a href="/entry/300291">300291</a>).</p><p>Heterozygous mutation in the IKBKG gene results in X-linked dominant incontinentia pigmenti (IP; <a href="/entry/308300">308300</a>) in females.</p>
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</div>
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<div>
<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>Immunodeficiency-33 (IMD33) is an X-linked recessive disorder that affects only males. It is characterized by early-onset severe infections, usually due to pneumococcus, H. influenzae, and atypical mycobacteria, although other organisms have also been detected. Immunologic investigations may show variable abnormalities or may be normal. Disturbances include dysgammaglobulinemia with hypogammaglobulinemia, decreased IgG2, aberrant levels of IgM and IgA, and decreased class-switched memory B cells. There is often poor, but variable, response to vaccination; in particular, most patients do not develop antibodies to certain polysaccharide vaccines, notably pneumococcus. Other immunologic abnormalities may include impaired NK cytotoxic function, impaired cytokine production upon stimulation with IL1B (<a href="/entry/147720">147720</a>) or TNFA (<a href="/entry/191160">191160</a>), low IL6 (<a href="/entry/147620">147620</a>), low IL12 (see <a href="/entry/161561">161561</a>), and decreased IFNG (<a href="/entry/147570">147570</a>). Patients do not have overt abnormalities of T-cell proliferation, although signaling pathways, such as CD40LG (<a href="/entry/300386">300386</a>)/CD40 (<a href="/entry/109535">109535</a>), may be disturbed. There is heterogeneity in the immunologic phenotype, resulting in highly variable clinical courses, most likely due to the different effects of hypomorphic mutations. Treatment with antibiotics and IVIg is usually beneficial; hematopoietic stem cell transplantation may not be necessary, but can be effective. Features of hypohidrotic ectodermal dysplasia are generally not present, although some patients may have conical teeth or hypodontia (summary by <a href="#12" class="mim-tip-reference" title="Orange, J. S., Levy, O., Brodeur, S. R., Krzewski, K., Roy, R. M., Niemela, J. E., Fleisher, T. A., Bonilla, F. A., Geha, R. S. &lt;strong&gt;Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.&lt;/strong&gt; J. Allergy Clin. Immun. 114: 650-656, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15356572/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15356572&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jaci.2004.06.052&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15356572">Orange et al., 2004</a>, <a href="#3" class="mim-tip-reference" title="Filipe-Santos, O., Bustamante, J., Haverkamp, M. H., Vinolo, E., Ku, C.-L., Puel, A., Frucht, D. M., Christel, K., von Bernuth, H., Jouanguy, E., Feinberg, J., Durandy, A., and 25 others. &lt;strong&gt;X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.&lt;/strong&gt; J. Exp. Med. 203: 1745-1759, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16818673/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16818673&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16818673[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1084/jem.20060085&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16818673">Filipe-Santos et al., 2006</a>, <a href="#14" class="mim-tip-reference" title="Salt, B. H., Niemela, J. E., Pandey, R., Hanson, E. P., Deering, R. P., Quinones, R., Jain, A., Orange, J. S., Gelfand, E. W. &lt;strong&gt;IKBKG (nuclear factor-kappa-B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.&lt;/strong&gt; J. Allergy Clin. Immun. 121: 976-982, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18179816/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18179816&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18179816[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jaci.2007.11.014&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18179816">Salt et al., 2008</a>, <a href="#6" class="mim-tip-reference" title="Heller, S., Kolsch, U., Magg, T., Kruger, R., Scheuern, A., Schneider, H., Eichinger, A., Wahn, V., Unterwalder, N., Lorenz, M., Schwarz, K., Meisel, C., Schulz, A., Hauck, F., von Bernuth, H. &lt;strong&gt;T cell impairment is predictive for a severe clinical course in NEMO deficiency.&lt;/strong&gt; J. Clin. Immun. 40: 421-434, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31965418/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31965418&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10875-019-00728-y&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31965418">Heller et al., 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=31965418+18179816+16818673+15356572" 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="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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</h4>
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<p><a href="#11" class="mim-tip-reference" title="Orange, J. S., Jain, A., Ballas, Z. K., Schneider, L. C., Geha, R. S., Bonilla, F. A. &lt;strong&gt;The presentation and natural history of immunodeficiency caused by nuclear factor kappa-B essential modulator mutation.&lt;/strong&gt; J. Allergy Clin. Immun. 113: 725-733, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15100680/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15100680&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jaci.2004.01.762&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15100680">Orange et al. (2004)</a> reported a boy (patient 5) who developed sepsis with Haemophilus influenzae at 5 years of age after immunization, and later had a cutaneous mycobacterial infection. Medical history revealed possible earlier bacterial pneumonia. He responded to treatment for the mycobacterium without relapse. He did not have hypogammaglobulinemia, but did have decreased levels of some IgG subsets, and decreased NK cell cytotoxic activity compared to controls. The boy had no clinical evidence of ectodermal dysplasia. <a href="#12" class="mim-tip-reference" title="Orange, J. S., Levy, O., Brodeur, S. R., Krzewski, K., Roy, R. M., Niemela, J. E., Fleisher, T. A., Bonilla, F. A., Geha, R. S. &lt;strong&gt;Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.&lt;/strong&gt; J. Allergy Clin. Immun. 114: 650-656, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15356572/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15356572&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jaci.2004.06.052&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15356572">Orange et al. (2004)</a> reported follow-up of this patient, who was described as a 15-year-old boy with a specific pattern of infectious susceptibility and immunodeficiency. He had pneumonia 4 times between the ages of 3 and 7 years and Haemophilus influenzae type b sepsis at age 5 years. He had a normal total IgG level, but IgG3 levels that were never greater than 10 mg/dL and no specific antibody against tetanus toxoid (despite receiving immunization) or H. influenzae polyribosyl phosphate; he was treated with immunoglobulin replacement. Laboratory studies showed variably impaired immunologic function, with reduced CD40-induced B-cell proliferation, variable Toll-like receptor-induced TNF production, and partially reduced NFKB nuclear translocation. He did not have ectodermal dysplasia and had normal dentition, hair pattern, and perspiration. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15100680+15356572" 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="#10" class="mim-tip-reference" title="Niehues, T., Reichenbach, J., Neubert, J., Gudowius, S., Puel, A., Horneff, G., Lainka, E., Dirksen, U., Schroten, H., Doffinger, R., Casanova, J. L., Wahn, V. &lt;strong&gt;Nuclear factor kappa B essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.&lt;/strong&gt; J. Allergy Clin. Immun. 114: 1456-1462, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15577852/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15577852&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jaci.2004.08.047&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15577852">Niehues et al. (2004)</a> reported a boy, born of healthy unrelated Polish parents living in Germany, with IMD33 without signs of ectodermal dysplasia. From the age of 15 months, he suffered from multiple episodes of disseminated Mycobacterium avium disease (affecting mostly lymph nodes and bones). At the age of 7 years, he was diagnosed with bronchiectasis caused by Haemophilus influenzae and Streptococcus pneumoniae. At the age of 11 years, the patient presented with extraintestinal disease caused by Salmonella enteritidis. At the age of 12, he developed severe autoimmune hemolytic anemia and died from herpes simplex virus 1 meningoencephalitis. Immunologic workup showed low IgA and IgG levels, with markedly high serum IgM levels and low levels of gamma-IFN. No serum antibodies against diphtheria toxoid and tetanus toxoid were detected, and titers of antibodies against H. influenzae were low despite complete routine vaccination. The patient also presented low serum titers of antibodies against S. pneumoniae and had no allohemagglutinin antibodies. Known molecular causes of hyper-IgM syndrome (<a href="/entry/308230">308230</a>) were excluded. The numbers of T, B, and NK lymphocytes and the proportions of the CD4+ and CD8+ T lymphocyte subsets were within normal ranges at the ages of 2 and 4 years, although he lacked memory B cells. Proliferative responses of T lymphocytes to mitogens were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15577852" 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="#8" class="mim-tip-reference" title="Ku, C.-L., Dupuis-Girod, S., Dittrich, A.-M., Bustamante, J., Santos, O. F., Schulze, I., Bertrand, Y., Couly, G., Bodemer, C., Bossuyt, X., Picard, C., Casanova, J.-L. &lt;strong&gt;NEMO mutations in 2 unrelated boys with severe infections and conical teeth.&lt;/strong&gt; Pediatrics 115: e615, 2005. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15833888/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15833888&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1542/peds.2004-1754&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15833888">Ku et al. (2005)</a> reported 2 unrelated boys with IMD33. They presented in the first years of life with recurrent severe systemic bacterial infections, including pneumococcus, H. influenzae, and Pseudomonas, as well as Candida. Immunoglobulin levels were normal, although IgM was low in 1 patient. Neither patient developed antibodies to pneumococcus, despite recurrent infections; patient 1 was unable to mount an antibody response to pneumococcal polysaccharide vaccination. However, both did respond to H. influenzae vaccine, and patient 2 mounted a response to tetanus toxoid. Neither patient had features of ectodermal dysplasia, although they had hypodontia and conical incisors. The mother of 1 patient had conical teeth, whereas the mother of the other patient had no clinical abnormalities. <a href="#6" class="mim-tip-reference" title="Heller, S., Kolsch, U., Magg, T., Kruger, R., Scheuern, A., Schneider, H., Eichinger, A., Wahn, V., Unterwalder, N., Lorenz, M., Schwarz, K., Meisel, C., Schulz, A., Hauck, F., von Bernuth, H. &lt;strong&gt;T cell impairment is predictive for a severe clinical course in NEMO deficiency.&lt;/strong&gt; J. Clin. Immun. 40: 421-434, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31965418/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31965418&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10875-019-00728-y&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31965418">Heller et al. (2020)</a> reported follow-up of one of the patients reported by <a href="#8" class="mim-tip-reference" title="Ku, C.-L., Dupuis-Girod, S., Dittrich, A.-M., Bustamante, J., Santos, O. F., Schulze, I., Bertrand, Y., Couly, G., Bodemer, C., Bossuyt, X., Picard, C., Casanova, J.-L. &lt;strong&gt;NEMO mutations in 2 unrelated boys with severe infections and conical teeth.&lt;/strong&gt; Pediatrics 115: e615, 2005. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15833888/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15833888&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1542/peds.2004-1754&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15833888">Ku et al. (2005)</a>, noting that he was treated successfully with IVIg and lived an independent life at age 25. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15833888+31965418" 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="#9" class="mim-tip-reference" title="Ku, C.-L., Picard, C., Erdos, M., Jeurissen, A., Bustamante, J., Puel, A., von Bernuth, H., Filipe-Santos, O., Chang, H.-H., Lawrence, T., Raes, M., Marodi, L., Bossuyt, X., Casanova, J.-L. &lt;strong&gt;IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.&lt;/strong&gt; J. Med. Genet. 44: 16-23, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16950813/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16950813&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16950813[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2006.044446&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16950813">Ku et al. (2007)</a> described a 4.5-year-old boy, born to unrelated Belgian parents, with IMD33. He was noted to have hypodontia with conical incisors, but had only dry skin with normal sweating. He received all routine vaccinations with no adverse effect. At age 15 months, he was hospitalized for persistent fever with buccal cellulitis, caused by Streptococcus pneumoniae serotype 33. He recovered completely after intravenous cefuroxime for 7 days, but continued to have recurrent invasive infections with Streptococcus pneumoniae serotype 33. Beginning at age 23 months, he had serial vaccinations for pneumococcus, but again presented with recurrent invasive infections of Streptococcus pneumoniae serotype 23. Immunologic workup showed normal numbers of white cells and lymphocytes, normal Ig levels, and normal numbers of T, B, and NK cells. He had impaired antibody response to multiple vaccinations. Monthly prophylactic treatment with intravenous immunoglobulins was started when the patient was 3 years, 8 months old. Studies of patient fibroblasts showed impaired responses to stimulation by both IL1B and TNFA. This and other responses suggested a defect downstream of the TOLL/IL1R signaling pathway (see <a href="/entry/603030">603030</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16950813" 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="#3" class="mim-tip-reference" title="Filipe-Santos, O., Bustamante, J., Haverkamp, M. H., Vinolo, E., Ku, C.-L., Puel, A., Frucht, D. M., Christel, K., von Bernuth, H., Jouanguy, E., Feinberg, J., Durandy, A., and 25 others. &lt;strong&gt;X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.&lt;/strong&gt; J. Exp. Med. 203: 1745-1759, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16818673/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16818673&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16818673[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1084/jem.20060085&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16818673">Filipe-Santos et al. (2006)</a> reported a multiplex American kindred (kindred A) in which 4 boys developed disseminated mycobacterial disease in an X-linked recessive pattern of inheritance. None of the patients had BCG vaccination, but all presented with disseminated M. avium infection between ages 5 and 14 years. Several developed other recurrent severe bacteremic infections with H. influenzae and Enterobacter. An unrelated boy of Italian/Serbian descent (kindred B) had BCG vaccination at age 2 months and presented with disseminated disease at age 2 years. At age 8 years, he was clinically well with no treatment. Another unrelated boy of German descent had recurrent infections in childhood, including bronchitis, pneumonitis, and H. influenzae, and presented at age 11 years with mycobacterial disease. In all patients, laboratory studies showed normal numbers of immune cells, normal T-cell proliferative responses, and normal immunoglobulins with proper antibody responses to vaccination, including pneumococcus, although this response was low and somewhat delayed. Detailed immunologic studies of all patients showed impaired CD40 signaling in monocytes and antigen-presenting cells, delayed nuclear accumulation of NFKB, and impaired secretion of IL12 by CD40L-expressing T cells. This resulted in impaired gamma-IFN production by T cells, ultimately resulting in increased susceptibility to mycobacterial infection. However, CD40-dependent proliferation and immunoglobulin class-switching of B cells was normal, and patients' blood and fibroblasts responded to other NFKB activators, such as TNFA, IL1B, and LPS. Some of the patients had sparse or conical teeth, which was long unrecognized, but no other features of ectodermal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16818673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Salt, B. H., Niemela, J. E., Pandey, R., Hanson, E. P., Deering, R. P., Quinones, R., Jain, A., Orange, J. S., Gelfand, E. W. &lt;strong&gt;IKBKG (nuclear factor-kappa-B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.&lt;/strong&gt; J. Allergy Clin. Immun. 121: 976-982, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18179816/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18179816&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18179816[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jaci.2007.11.014&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18179816">Salt et al. (2008)</a> reported a boy with recurrent infections, including Pneumocystis, CMV, and rotavirus. He had normal immunoglobulins and normal antibody response to diphtheria, tetanus, and H. influenzae B, but poor response to pneumococcal vaccination. Detailed immunologic studies showed impaired NK cell function and evidence of impaired T-cell receptor signaling through the NFKB pathway. Toll-like receptor function appeared to be normal. He had no evidence of ectodermal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18179816" 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="Frans, G., van der Werff Ten Bosch, J., Moens, L., Gijsbers, R., Changi-Ashtiani, M., Rokni-Zadeh, H., Shahrooei, M., Wuyts, G., Meyts, I., Bossuyt, X. &lt;strong&gt;Functional evaluation of an IKBK variant suspected to cause immunodeficiency without ectodermal dysplasia.&lt;/strong&gt; J. Clin. Immun. 37: 801-810, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28993958/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28993958&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10875-017-0448-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28993958">Frans et al. (2017)</a> reported a 2-year-old boy with IMD33. He presented at 1 year of age with otitis media and mastoiditis due to Pseudomonas infection, and later developed an EBV infection. Laboratory studies showed hypogammaglobulinemia, polysaccharide antibody deficiency, and low levels of switched memory B cells. Patient peripheral blood cells showed mildly impaired IL6 production in response to IL1B. He had no signs of ectodermal dysplasia. Treatment with immunoglobulin therapy resulted in clinical improvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28993958" 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="#2" class="mim-tip-reference" title="Boisson, B., Honda, Y., Ajiro, M., Bustamante, J., Bendavid, M., Gennery, A. R., Kawasaki, Y., Ichishima, J., Osawa, M., Nihira, H., Shiba, T., Tanaka, T., and 16 others. &lt;strong&gt;Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.&lt;/strong&gt; J. Clin. Invest. 129: 583-597, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30422821/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;30422821&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=30422821[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI124011&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="30422821">Boisson et al. (2019)</a> reported 2 brothers from a European family (family A) and a boy from a Japanese family (family B) with severe IMD33. The patients presented in infancy with severe systemic infections, including Klebsiella, respiratory syncytial virus, Enterobacter, E. coli, fungal infections, and HHV6. Although immunologic parameters were basically normal, 1 patient had no IgA and developed hypogammaglobulinemia with poor response to tetanus and H. influenzae vaccination. Two patients had other variable abnormalities, including low IgG levels, high white cells, transient neutropenia, lymphopenia, and low NK cell levels. TNFA production in response to LPS and IFNG was impaired in the 1 patient studied. None of the patients had features of ectodermal dysplasia; all died by 9 months of age. The mother in family A had mild features of IP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30422821" 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="#6" class="mim-tip-reference" title="Heller, S., Kolsch, U., Magg, T., Kruger, R., Scheuern, A., Schneider, H., Eichinger, A., Wahn, V., Unterwalder, N., Lorenz, M., Schwarz, K., Meisel, C., Schulz, A., Hauck, F., von Bernuth, H. &lt;strong&gt;T cell impairment is predictive for a severe clinical course in NEMO deficiency.&lt;/strong&gt; J. Clin. Immun. 40: 421-434, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31965418/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31965418&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10875-019-00728-y&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31965418">Heller et al. (2020)</a> reported a boy (patient 2) with IMD33 without ectodermal dysplasia. He had recurrent infections, including respiratory infections and oral HSV1. Immunoglobulin levels and tetanus antibodies were normal, but he had impaired response to polysaccharide vaccinations. He was successfully treated with IVIg. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31965418" 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>Clinical Variability</em></strong></p><p>
<a href="#7" class="mim-tip-reference" title="Hsu, A. P., Zerbe, C. S., Foruraghi, L., Iovine, N. L., Leiding, J. W., Mushatt, D. M., Wild, L., Kuhns, D. B., Holland, S. M. &lt;strong&gt;IKBKG (NEMO) 5-prime untranslated splice mutations lead to severe, chronic disseminated mycobacterial infections.&lt;/strong&gt; Clin. Infect. Dis. 67: 456-459, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29534156/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29534156&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/cid/ciy186&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29534156">Hsu et al. (2018)</a> reported 4 adult males, including 2 sibs, who presented with disseminated mycobacterial infections between 26 and 38 years of age. All had a remote history of recurrent childhood infections, including H. influenzae. One patient had documented low IgM, increased IgA, and poor responses to pneumococcal, influenza, and measles vaccination. None had clear evidence of ectodermal dysplasia. Three of the patients died from the mycobacterial infection; the fourth patient was unable to clear the infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29534156" 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>Most patients with IMD33 respond well to IVIg and prophylactic antibiotics (<a href="#4" class="mim-tip-reference" title="Frans, G., van der Werff Ten Bosch, J., Moens, L., Gijsbers, R., Changi-Ashtiani, M., Rokni-Zadeh, H., Shahrooei, M., Wuyts, G., Meyts, I., Bossuyt, X. &lt;strong&gt;Functional evaluation of an IKBK variant suspected to cause immunodeficiency without ectodermal dysplasia.&lt;/strong&gt; J. Clin. Immun. 37: 801-810, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28993958/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28993958&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10875-017-0448-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28993958">Frans et al., 2017</a>, <a href="#6" class="mim-tip-reference" title="Heller, S., Kolsch, U., Magg, T., Kruger, R., Scheuern, A., Schneider, H., Eichinger, A., Wahn, V., Unterwalder, N., Lorenz, M., Schwarz, K., Meisel, C., Schulz, A., Hauck, F., von Bernuth, H. &lt;strong&gt;T cell impairment is predictive for a severe clinical course in NEMO deficiency.&lt;/strong&gt; J. Clin. Immun. 40: 421-434, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31965418/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31965418&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10875-019-00728-y&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31965418">Heller et al., 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=31965418+28993958" 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>Some patients with IMD33 have had successful bone marrow transplantation, although the outcomes are variable and a few may have persistent colitis. The absence of ectodermal dysplasia may be associated with a better outcome (<a href="#1" class="mim-tip-reference" title="Abbott, J. K., Quinones, R. R., de la Morena, M. T., Gelfand, E. W. &lt;strong&gt;Successful hematopoietic cell transplantation in patients with unique NF-kappa-B essential modulator (NEMO) mutations. (Letter)&lt;/strong&gt; Bone Marrow Transplant. 49: 1446-1447, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25068423/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25068423&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/bmt.2014.157&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25068423">Abbott et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25068423" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of IMD33 in the families reported by <a href="#3" class="mim-tip-reference" title="Filipe-Santos, O., Bustamante, J., Haverkamp, M. H., Vinolo, E., Ku, C.-L., Puel, A., Frucht, D. M., Christel, K., von Bernuth, H., Jouanguy, E., Feinberg, J., Durandy, A., and 25 others. &lt;strong&gt;X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.&lt;/strong&gt; J. Exp. Med. 203: 1745-1759, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16818673/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16818673&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16818673[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1084/jem.20060085&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16818673">Filipe-Santos et al. (2006)</a> was consistent with X-linked recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16818673" 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="molecularGenetics" class="mim-anchor"></a>
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<p>In a 15-year-old boy with IMD33, <a href="#12" class="mim-tip-reference" title="Orange, J. S., Levy, O., Brodeur, S. R., Krzewski, K., Roy, R. M., Niemela, J. E., Fleisher, T. A., Bonilla, F. A., Geha, R. S. &lt;strong&gt;Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.&lt;/strong&gt; J. Allergy Clin. Immun. 114: 650-656, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15356572/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15356572&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jaci.2004.06.052&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15356572">Orange et al. (2004)</a> identified a de novo hemizygous splice site mutation in the IKBKG gene (<a href="/entry/300248#0018">300248.0018</a>), resulting in the skipping of exon 9 and the deletion of 19 residues, some of which affected the leucine zipper (LZ) domain. Analysis of patient peripheral blood and buccal epithelial cells showed presence of both mutant and wildtype transcripts. Western blot analysis using an antibody against the LZ domain showed barely detectable IKBKG protein levels in patient cells, whereas an antibody against the zinc finger domain showed normal protein levels. The presence of some normal transcripts may explain immunodeficiency without signs of ectodermal dysplasia in this patient. In vitro functional expression studies showed impaired, but not absent, nuclear translocation of NFKB in stimulated patient B cells compared to controls, as well as variable response to TNFA. <a href="#12" class="mim-tip-reference" title="Orange, J. S., Levy, O., Brodeur, S. R., Krzewski, K., Roy, R. M., Niemela, J. E., Fleisher, T. A., Bonilla, F. A., Geha, R. S. &lt;strong&gt;Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.&lt;/strong&gt; J. Allergy Clin. Immun. 114: 650-656, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15356572/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15356572&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jaci.2004.06.052&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15356572">Orange et al. (2004)</a> postulated that exon 9 may be dispensable for ectodermal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15356572" 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 the boy with IMD33 reported by <a href="#10" class="mim-tip-reference" title="Niehues, T., Reichenbach, J., Neubert, J., Gudowius, S., Puel, A., Horneff, G., Lainka, E., Dirksen, U., Schroten, H., Doffinger, R., Casanova, J. L., Wahn, V. &lt;strong&gt;Nuclear factor kappa B essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.&lt;/strong&gt; J. Allergy Clin. Immun. 114: 1456-1462, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15577852/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15577852&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jaci.2004.08.047&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15577852">Niehues et al. (2004)</a>, <a href="#13" class="mim-tip-reference" title="Puel, A., Reichenbach, J., Bustamante, J., Ku, C.-L., Feinberg, J., Doffinger, R., Bonnet, M., Filipe-Santos, O., de Beaucoudrey, L., Durandy, A., Horneff, G., Novelli, F., Wahn, V., Smahi, A., Israel, A., Niehues, T., Casanova, J.-L. &lt;strong&gt;The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.&lt;/strong&gt; Am. J. Hum. Genet. 78: 691-701, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16532398/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16532398&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16532398[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/501532&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16532398">Puel et al. (2006)</a> found a hemizygous 1-bp insertion in exon 2 of the NEMO gene (<a href="/entry/300248#0019">300248.0019</a>), resulting in premature termination. <a href="#13" class="mim-tip-reference" title="Puel, A., Reichenbach, J., Bustamante, J., Ku, C.-L., Feinberg, J., Doffinger, R., Bonnet, M., Filipe-Santos, O., de Beaucoudrey, L., Durandy, A., Horneff, G., Novelli, F., Wahn, V., Smahi, A., Israel, A., Niehues, T., Casanova, J.-L. &lt;strong&gt;The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.&lt;/strong&gt; Am. J. Hum. Genet. 78: 691-701, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16532398/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16532398&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16532398[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/501532&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16532398">Puel et al. (2006)</a> showed that a Kozakian methionine codon located immediately downstream from the insertion allowed the reinitiation of translation. The findings suggested that residual production of an NH2-truncated NEMO protein was sufficient for normal fetal development and for the subsequent normal development of skin appendages, but was insufficient for the development of protective immune responses. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15577852+16532398" 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 unrelated boys with IMD33, <a href="#8" class="mim-tip-reference" title="Ku, C.-L., Dupuis-Girod, S., Dittrich, A.-M., Bustamante, J., Santos, O. F., Schulze, I., Bertrand, Y., Couly, G., Bodemer, C., Bossuyt, X., Picard, C., Casanova, J.-L. &lt;strong&gt;NEMO mutations in 2 unrelated boys with severe infections and conical teeth.&lt;/strong&gt; Pediatrics 115: e615, 2005. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15833888/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15833888&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1542/peds.2004-1754&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15833888">Ku et al. (2005)</a> identified hemizygous mutations in the IKBKG gene (c.811_828del, <a href="/entry/300248#0025">300248.0025</a> and L80P, <a href="/entry/300248#0026">300248.0026</a>). The mutations occurred in the coiled-coil domains of the protein. Western blot analysis of patient cells showed presence of the IKBKG protein, but fibroblasts had poor IL6 production in response to TNFA and IL1B compared to controls. The findings were consistent with a hypomorphic allele. The patients had hypodontia and conical teeth, but no other features of ectodermal dysplasia. One carrier mother also had conical teeth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15833888" 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 affected males from 3 unrelated kindreds with IMD33, <a href="#3" class="mim-tip-reference" title="Filipe-Santos, O., Bustamante, J., Haverkamp, M. H., Vinolo, E., Ku, C.-L., Puel, A., Frucht, D. M., Christel, K., von Bernuth, H., Jouanguy, E., Feinberg, J., Durandy, A., and 25 others. &lt;strong&gt;X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.&lt;/strong&gt; J. Exp. Med. 203: 1745-1759, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16818673/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16818673&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16818673[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1084/jem.20060085&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16818673">Filipe-Santos et al. (2006)</a> identified 2 hemizygous missense mutations in the NEMO gene (E315A, <a href="/entry/300248#0021">300248.0021</a> and R319Q, <a href="/entry/300248#0022">300248.0022</a>), both of which occurred in the LZ domain and were predicted to disrupt a salt bridge. Western blot and flow cytometric analyses showed normal expression of the mutant NEMO proteins. Patient mononuclear cells responded normally to most stimuli, but IFNG (<a href="/entry/147570">147570</a>) and IL12 (see <a href="/entry/161561">161561</a>) production in response to PHA mitogen was impaired due to defective CD40 (<a href="/entry/109535">109535</a>) signaling in monocytes and dendritic cells. <a href="#3" class="mim-tip-reference" title="Filipe-Santos, O., Bustamante, J., Haverkamp, M. H., Vinolo, E., Ku, C.-L., Puel, A., Frucht, D. M., Christel, K., von Bernuth, H., Jouanguy, E., Feinberg, J., Durandy, A., and 25 others. &lt;strong&gt;X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.&lt;/strong&gt; J. Exp. Med. 203: 1745-1759, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16818673/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16818673&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16818673[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1084/jem.20060085&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16818673">Filipe-Santos et al. (2006)</a> concluded that mutations in NEMO that disrupt the leucine zipper domain provide a genetic etiology to X-linked recessive immunodeficiency with a particular susceptibility to mycobacterial disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16818673" 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 Belgian boy with IMD33, <a href="#9" class="mim-tip-reference" title="Ku, C.-L., Picard, C., Erdos, M., Jeurissen, A., Bustamante, J., Puel, A., von Bernuth, H., Filipe-Santos, O., Chang, H.-H., Lawrence, T., Raes, M., Marodi, L., Bossuyt, X., Casanova, J.-L. &lt;strong&gt;IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.&lt;/strong&gt; J. Med. Genet. 44: 16-23, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16950813/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16950813&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16950813[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2006.044446&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16950813">Ku et al. (2007)</a> identified a hemizygous mutation in the IKBKG gene (R173G; <a href="/entry/300248#0023">300248.0023</a>) that resulted in abnormal splicing. Western blot analysis showed decreased levels of the protein compared to controls, consistent with partial IKBKG deficiency. The mother was heterozygous for this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16950813" 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 2-year-old boy with IMD33, <a href="#4" class="mim-tip-reference" title="Frans, G., van der Werff Ten Bosch, J., Moens, L., Gijsbers, R., Changi-Ashtiani, M., Rokni-Zadeh, H., Shahrooei, M., Wuyts, G., Meyts, I., Bossuyt, X. &lt;strong&gt;Functional evaluation of an IKBK variant suspected to cause immunodeficiency without ectodermal dysplasia.&lt;/strong&gt; J. Clin. Immun. 37: 801-810, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28993958/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28993958&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10875-017-0448-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28993958">Frans et al. (2017)</a> identified a hemizygous missense mutation in the IKBKG gene (E57K; <a href="/entry/300248#0029">300248.0029</a>). The mutation affected the N-terminal domain of the protein. His mother, who also carried the mutation, had a history of recurrent sinorespiratory infections, but no signs of IP. The variant was present at a low frequency (0.001) in the ExAC database. Patient peripheral blood cells showed mildly decreased IL6 production after stimulation with IL1B compared to controls. However, NEMO expression in patient fibroblasts was normal, and IKBA was degraded normally upon stimulation with IL1B or TNFA, suggesting a specific effect of the mutation. In vitro functional expression studies in IKBKG-null cells transfected with the mutation showed mildly impaired IL6 production after stimulation with TNFA or IL1B compared to controls. <a href="#4" class="mim-tip-reference" title="Frans, G., van der Werff Ten Bosch, J., Moens, L., Gijsbers, R., Changi-Ashtiani, M., Rokni-Zadeh, H., Shahrooei, M., Wuyts, G., Meyts, I., Bossuyt, X. &lt;strong&gt;Functional evaluation of an IKBK variant suspected to cause immunodeficiency without ectodermal dysplasia.&lt;/strong&gt; J. Clin. Immun. 37: 801-810, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28993958/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28993958&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10875-017-0448-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28993958">Frans et al. (2017)</a> noted that mutations affecting the N terminus of NEMO tend to lead to decreased production of immunoglobulins; the authors postulated a hypomorphic effect of this variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28993958" 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 4 adult males from 3 unrelated families with IMD33 manifest as disseminated mycobacterial infections, <a href="#7" class="mim-tip-reference" title="Hsu, A. P., Zerbe, C. S., Foruraghi, L., Iovine, N. L., Leiding, J. W., Mushatt, D. M., Wild, L., Kuhns, D. B., Holland, S. M. &lt;strong&gt;IKBKG (NEMO) 5-prime untranslated splice mutations lead to severe, chronic disseminated mycobacterial infections.&lt;/strong&gt; Clin. Infect. Dis. 67: 456-459, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29534156/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29534156&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/cid/ciy186&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29534156">Hsu et al. (2018)</a> identified hemizygous splice site mutations in the 5-prime untranslated region of the IKBKG gene. Three patients from 2 families (families A and B) carried a c.1-16G-C transversion (<a href="/entry/300248#0030">300248.0030</a>) at the last base of the first untranslated exon. The patient from family C carried a hemizygous c.1-16+G-T in the adjacent intron. Analysis of cells from the patient with the c.1-16G-C mutation showed a splicing abnormality, resulting in a 110-bp deletion at the 3-prime end of exon 1. This molecular defect resulted in decreased transcript and protein levels compared to controls (about 30%). Cells derived from the patients in families A and B failed to upregulate cytokines in response to certain TLR agonists, suggesting that this IKBKG mutation is hypomorphic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29534156" 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 3 boys from 2 families of European and Japanese descent who died from IMD33, <a href="#2" class="mim-tip-reference" title="Boisson, B., Honda, Y., Ajiro, M., Bustamante, J., Bendavid, M., Gennery, A. R., Kawasaki, Y., Ichishima, J., Osawa, M., Nihira, H., Shiba, T., Tanaka, T., and 16 others. &lt;strong&gt;Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.&lt;/strong&gt; J. Clin. Invest. 129: 583-597, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30422821/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;30422821&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=30422821[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI124011&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="30422821">Boisson et al. (2019)</a> identified a deep intronic mutation (IVS4+866C-T; <a href="/entry/300248#0024">300248.0024</a>) in the IKBKG gene that created a new splicing donor site and resulted in a 44-nucleotide pseudoexon that produced a frameshift. The boy in the European family inherited the mutation from his mother, who had mild incontinentia pigmenti. The mutation in the Japanese boy occurred de novo. The variant was not found in the 1000 Genomes Project or gnomAD databases. In vitro studies showed impaired, but not abolished NFKB activation. Aberrant splicing rates differed between cell types, with wildtype NEMO mRNA and protein levels ranging from barely detectable in leukocytes to residual amounts in induced pluripotent stem cell-derived (iPSC-derived) macrophages, and higher levels in fibroblasts and iPSC-derived neuronal precursor cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30422821" 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 boy (patient 1) with IMD33, <a href="#1" class="mim-tip-reference" title="Abbott, J. K., Quinones, R. R., de la Morena, M. T., Gelfand, E. W. &lt;strong&gt;Successful hematopoietic cell transplantation in patients with unique NF-kappa-B essential modulator (NEMO) mutations. (Letter)&lt;/strong&gt; Bone Marrow Transplant. 49: 1446-1447, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25068423/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25068423&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/bmt.2014.157&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25068423">Abbott et al. (2014)</a> identified a hemizygous missense mutation in the first coiled-coil domain of the NEMO gene (D113N; <a href="/entry/300248#0032">300248.0032</a>). The patient had previously been reported in detail by <a href="#14" class="mim-tip-reference" title="Salt, B. H., Niemela, J. E., Pandey, R., Hanson, E. P., Deering, R. P., Quinones, R., Jain, A., Orange, J. S., Gelfand, E. W. &lt;strong&gt;IKBKG (nuclear factor-kappa-B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.&lt;/strong&gt; J. Allergy Clin. Immun. 121: 976-982, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18179816/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18179816&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18179816[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jaci.2007.11.014&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18179816">Salt et al. (2008)</a>; his unaffected mother also carried the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18179816+25068423" 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="#6" class="mim-tip-reference" title="Heller, S., Kolsch, U., Magg, T., Kruger, R., Scheuern, A., Schneider, H., Eichinger, A., Wahn, V., Unterwalder, N., Lorenz, M., Schwarz, K., Meisel, C., Schulz, A., Hauck, F., von Bernuth, H. &lt;strong&gt;T cell impairment is predictive for a severe clinical course in NEMO deficiency.&lt;/strong&gt; J. Clin. Immun. 40: 421-434, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31965418/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31965418&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10875-019-00728-y&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31965418">Heller et al. (2020)</a> identified a hemizygous D113N mutation in a boy with IMD33. His mother and grandmother, who were presumably unaffected, carried the heterozygous mutation. However, the proband's 40-year-old male cousin, who did not have recurrent infections and had normal response to polysaccharide antibodies, was hemizygous for D113N. <a href="#6" class="mim-tip-reference" title="Heller, S., Kolsch, U., Magg, T., Kruger, R., Scheuern, A., Schneider, H., Eichinger, A., Wahn, V., Unterwalder, N., Lorenz, M., Schwarz, K., Meisel, C., Schulz, A., Hauck, F., von Bernuth, H. &lt;strong&gt;T cell impairment is predictive for a severe clinical course in NEMO deficiency.&lt;/strong&gt; J. Clin. Immun. 40: 421-434, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31965418/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31965418&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10875-019-00728-y&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31965418">Heller et al. (2020)</a> noted that the allele frequency for this variant is rather high (0.009572), and that some suggest it may be a polymorphism (see <a href="#5" class="mim-tip-reference" title="Fusco, F., Bardaro, T., Fimiani, G., Mercadante, V., Miano, M. G., Falco, G., Israel, A., Courtois, G., D&#x27;Urso, M., Ursini, M. V. &lt;strong&gt;Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappa-B activation.&lt;/strong&gt; Hum. Molec. Genet. 13: 1763-1773, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15229184/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15229184&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddh192&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15229184">Fusco et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15229184+31965418" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In general, patients with NKBKG mutations affecting the C-terminal zinc finger domain have a more severe clinical course with ectodermal dysplasia, whereas patients with mutations affecting the leucine zipper domain or the more N-terminal coiled-coil domains have a less severe clinical course and usually do not show features of ectodermal dysplasia, although isolated hypodontia and/or conical teeth may be present (<a href="#11" class="mim-tip-reference" title="Orange, J. S., Jain, A., Ballas, Z. K., Schneider, L. C., Geha, R. S., Bonilla, F. A. &lt;strong&gt;The presentation and natural history of immunodeficiency caused by nuclear factor kappa-B essential modulator mutation.&lt;/strong&gt; J. Allergy Clin. Immun. 113: 725-733, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15100680/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15100680&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jaci.2004.01.762&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15100680">Orange et al., 2004</a>, <a href="#6" class="mim-tip-reference" title="Heller, S., Kolsch, U., Magg, T., Kruger, R., Scheuern, A., Schneider, H., Eichinger, A., Wahn, V., Unterwalder, N., Lorenz, M., Schwarz, K., Meisel, C., Schulz, A., Hauck, F., von Bernuth, H. &lt;strong&gt;T cell impairment is predictive for a severe clinical course in NEMO deficiency.&lt;/strong&gt; J. Clin. Immun. 40: 421-434, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31965418/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31965418&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10875-019-00728-y&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31965418">Heller et al., 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=31965418+15100680" 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>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Abbott2014" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Abbott, J. K., Quinones, R. R., de la Morena, M. T., Gelfand, E. W.
<strong>Successful hematopoietic cell transplantation in patients with unique NF-kappa-B essential modulator (NEMO) mutations. (Letter)</strong>
Bone Marrow Transplant. 49: 1446-1447, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25068423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25068423</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25068423" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/bmt.2014.157" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Boisson2019" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Boisson, B., Honda, Y., Ajiro, M., Bustamante, J., Bendavid, M., Gennery, A. R., Kawasaki, Y., Ichishima, J., Osawa, M., Nihira, H., Shiba, T., Tanaka, T., and 16 others.
<strong>Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.</strong>
J. Clin. Invest. 129: 583-597, 2019.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30422821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30422821</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30422821[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30422821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI124011" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
<a id="Filipe-Santos2006" class="mim-anchor"></a>
<div class="">
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Filipe-Santos, O., Bustamante, J., Haverkamp, M. H., Vinolo, E., Ku, C.-L., Puel, A., Frucht, D. M., Christel, K., von Bernuth, H., Jouanguy, E., Feinberg, J., Durandy, A., and 25 others.
<strong>X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.</strong>
J. Exp. Med. 203: 1745-1759, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16818673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16818673</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16818673[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16818673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1084/jem.20060085" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Frans2017" class="mim-anchor"></a>
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Frans, G., van der Werff Ten Bosch, J., Moens, L., Gijsbers, R., Changi-Ashtiani, M., Rokni-Zadeh, H., Shahrooei, M., Wuyts, G., Meyts, I., Bossuyt, X.
<strong>Functional evaluation of an IKBK variant suspected to cause immunodeficiency without ectodermal dysplasia.</strong>
J. Clin. Immun. 37: 801-810, 2017.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28993958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28993958</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28993958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s10875-017-0448-9" target="_blank">Full Text</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Fusco2004" class="mim-anchor"></a>
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Fusco, F., Bardaro, T., Fimiani, G., Mercadante, V., Miano, M. G., Falco, G., Israel, A., Courtois, G., D'Urso, M., Ursini, M. V.
<strong>Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappa-B activation.</strong>
Hum. Molec. Genet. 13: 1763-1773, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15229184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15229184</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15229184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddh192" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
<a id="Heller2020" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Heller, S., Kolsch, U., Magg, T., Kruger, R., Scheuern, A., Schneider, H., Eichinger, A., Wahn, V., Unterwalder, N., Lorenz, M., Schwarz, K., Meisel, C., Schulz, A., Hauck, F., von Bernuth, H.
<strong>T cell impairment is predictive for a severe clinical course in NEMO deficiency.</strong>
J. Clin. Immun. 40: 421-434, 2020.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31965418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31965418</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31965418" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s10875-019-00728-y" target="_blank">Full Text</a>]
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<a id="Hsu2018" class="mim-anchor"></a>
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Hsu, A. P., Zerbe, C. S., Foruraghi, L., Iovine, N. L., Leiding, J. W., Mushatt, D. M., Wild, L., Kuhns, D. B., Holland, S. M.
<strong>IKBKG (NEMO) 5-prime untranslated splice mutations lead to severe, chronic disseminated mycobacterial infections.</strong>
Clin. Infect. Dis. 67: 456-459, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29534156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29534156</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29534156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/cid/ciy186" target="_blank">Full Text</a>]
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<a id="Ku2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ku, C.-L., Dupuis-Girod, S., Dittrich, A.-M., Bustamante, J., Santos, O. F., Schulze, I., Bertrand, Y., Couly, G., Bodemer, C., Bossuyt, X., Picard, C., Casanova, J.-L.
<strong>NEMO mutations in 2 unrelated boys with severe infections and conical teeth.</strong>
Pediatrics 115: e615, 2005. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15833888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15833888</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15833888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1542/peds.2004-1754" target="_blank">Full Text</a>]
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<a id="Ku2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ku, C.-L., Picard, C., Erdos, M., Jeurissen, A., Bustamante, J., Puel, A., von Bernuth, H., Filipe-Santos, O., Chang, H.-H., Lawrence, T., Raes, M., Marodi, L., Bossuyt, X., Casanova, J.-L.
<strong>IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.</strong>
J. Med. Genet. 44: 16-23, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16950813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16950813</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16950813[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16950813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2006.044446" target="_blank">Full Text</a>]
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<a id="Niehues2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Niehues, T., Reichenbach, J., Neubert, J., Gudowius, S., Puel, A., Horneff, G., Lainka, E., Dirksen, U., Schroten, H., Doffinger, R., Casanova, J. L., Wahn, V.
<strong>Nuclear factor kappa B essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.</strong>
J. Allergy Clin. Immun. 114: 1456-1462, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15577852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15577852</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15577852" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.jaci.2004.08.047" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
<a id="Orange2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Orange, J. S., Jain, A., Ballas, Z. K., Schneider, L. C., Geha, R. S., Bonilla, F. A.
<strong>The presentation and natural history of immunodeficiency caused by nuclear factor kappa-B essential modulator mutation.</strong>
J. Allergy Clin. Immun. 113: 725-733, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15100680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15100680</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15100680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.jaci.2004.01.762" target="_blank">Full Text</a>]
</p>
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<a id="Orange2004" class="mim-anchor"></a>
<div class="">
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Orange, J. S., Levy, O., Brodeur, S. R., Krzewski, K., Roy, R. M., Niemela, J. E., Fleisher, T. A., Bonilla, F. A., Geha, R. S.
<strong>Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.</strong>
J. Allergy Clin. Immun. 114: 650-656, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15356572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15356572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15356572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.jaci.2004.06.052" target="_blank">Full Text</a>]
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<a id="Puel2006" class="mim-anchor"></a>
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Puel, A., Reichenbach, J., Bustamante, J., Ku, C.-L., Feinberg, J., Doffinger, R., Bonnet, M., Filipe-Santos, O., de Beaucoudrey, L., Durandy, A., Horneff, G., Novelli, F., Wahn, V., Smahi, A., Israel, A., Niehues, T., Casanova, J.-L.
<strong>The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.</strong>
Am. J. Hum. Genet. 78: 691-701, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16532398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16532398</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16532398[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16532398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/501532" target="_blank">Full Text</a>]
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<a id="Salt2008" class="mim-anchor"></a>
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Salt, B. H., Niemela, J. E., Pandey, R., Hanson, E. P., Deering, R. P., Quinones, R., Jain, A., Orange, J. S., Gelfand, E. W.
<strong>IKBKG (nuclear factor-kappa-B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.</strong>
J. Allergy Clin. Immun. 121: 976-982, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18179816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18179816</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18179816[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18179816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.jaci.2007.11.014" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 06/03/2020
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Matthew B. Gross - updated : 2/5/2007
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Paul J. Converse : 2/5/2007
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carol : 06/02/2022
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carol : 06/10/2020<br>carol : 06/09/2020<br>ckniffin : 06/03/2020<br>carol : 07/13/2016<br>ckniffin : 6/6/2016<br>mgross : 5/14/2015<br>mgross : 12/9/2014<br>mgross : 9/8/2014<br>mgross : 9/8/2014<br>mgross : 9/8/2014<br>mgross : 3/26/2007<br>mgross : 3/22/2007<br>mgross : 3/22/2007<br>terry : 3/9/2007<br>mgross : 2/28/2007<br>mgross : 2/5/2007<br>mgross : 2/5/2007<br>mgross : 2/5/2007
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<strong>#</strong> 300636
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IMMUNODEFICIENCY 33; IMD33
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2, FORMERLY; IPD2, FORMERLY
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<span class="mim-text-font">
<strong>ORPHA:</strong> 319605, 319612; &nbsp;
<strong>DO:</strong> 0112003; &nbsp;
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
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<th>
Inheritance
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<th>
Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<td>
<span class="mim-font">
Xq28
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<span class="mim-font">
Immunodeficiency 33
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<span class="mim-font">
300636
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X-linked recessive
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3
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IKBKG
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300248
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<h4>
<span class="mim-font">
<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that immunodeficiency-33 (IMD33) is caused by hemizygous mutation in the gene encoding NF-kappa-B essential modulator (NEMO, or IKBKG; 300248) on chromosome Xq28.</p><p>Hemizygous mutation in the IKBKG gene can also cause the X-linked recessive disorder ectodermal dysplasia and immunodeficiency-1 (EDAID1; 300291).</p><p>Heterozygous mutation in the IKBKG gene results in X-linked dominant incontinentia pigmenti (IP; 308300) in females.</p>
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<h4>
<span class="mim-font">
<strong>Description</strong>
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<span class="mim-text-font">
<p>Immunodeficiency-33 (IMD33) is an X-linked recessive disorder that affects only males. It is characterized by early-onset severe infections, usually due to pneumococcus, H. influenzae, and atypical mycobacteria, although other organisms have also been detected. Immunologic investigations may show variable abnormalities or may be normal. Disturbances include dysgammaglobulinemia with hypogammaglobulinemia, decreased IgG2, aberrant levels of IgM and IgA, and decreased class-switched memory B cells. There is often poor, but variable, response to vaccination; in particular, most patients do not develop antibodies to certain polysaccharide vaccines, notably pneumococcus. Other immunologic abnormalities may include impaired NK cytotoxic function, impaired cytokine production upon stimulation with IL1B (147720) or TNFA (191160), low IL6 (147620), low IL12 (see 161561), and decreased IFNG (147570). Patients do not have overt abnormalities of T-cell proliferation, although signaling pathways, such as CD40LG (300386)/CD40 (109535), may be disturbed. There is heterogeneity in the immunologic phenotype, resulting in highly variable clinical courses, most likely due to the different effects of hypomorphic mutations. Treatment with antibiotics and IVIg is usually beneficial; hematopoietic stem cell transplantation may not be necessary, but can be effective. Features of hypohidrotic ectodermal dysplasia are generally not present, although some patients may have conical teeth or hypodontia (summary by Orange et al., 2004, Filipe-Santos et al., 2006, Salt et al., 2008, Heller et al., 2020). </p>
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<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
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<p>Orange et al. (2004) reported a boy (patient 5) who developed sepsis with Haemophilus influenzae at 5 years of age after immunization, and later had a cutaneous mycobacterial infection. Medical history revealed possible earlier bacterial pneumonia. He responded to treatment for the mycobacterium without relapse. He did not have hypogammaglobulinemia, but did have decreased levels of some IgG subsets, and decreased NK cell cytotoxic activity compared to controls. The boy had no clinical evidence of ectodermal dysplasia. Orange et al. (2004) reported follow-up of this patient, who was described as a 15-year-old boy with a specific pattern of infectious susceptibility and immunodeficiency. He had pneumonia 4 times between the ages of 3 and 7 years and Haemophilus influenzae type b sepsis at age 5 years. He had a normal total IgG level, but IgG3 levels that were never greater than 10 mg/dL and no specific antibody against tetanus toxoid (despite receiving immunization) or H. influenzae polyribosyl phosphate; he was treated with immunoglobulin replacement. Laboratory studies showed variably impaired immunologic function, with reduced CD40-induced B-cell proliferation, variable Toll-like receptor-induced TNF production, and partially reduced NFKB nuclear translocation. He did not have ectodermal dysplasia and had normal dentition, hair pattern, and perspiration. </p><p>Niehues et al. (2004) reported a boy, born of healthy unrelated Polish parents living in Germany, with IMD33 without signs of ectodermal dysplasia. From the age of 15 months, he suffered from multiple episodes of disseminated Mycobacterium avium disease (affecting mostly lymph nodes and bones). At the age of 7 years, he was diagnosed with bronchiectasis caused by Haemophilus influenzae and Streptococcus pneumoniae. At the age of 11 years, the patient presented with extraintestinal disease caused by Salmonella enteritidis. At the age of 12, he developed severe autoimmune hemolytic anemia and died from herpes simplex virus 1 meningoencephalitis. Immunologic workup showed low IgA and IgG levels, with markedly high serum IgM levels and low levels of gamma-IFN. No serum antibodies against diphtheria toxoid and tetanus toxoid were detected, and titers of antibodies against H. influenzae were low despite complete routine vaccination. The patient also presented low serum titers of antibodies against S. pneumoniae and had no allohemagglutinin antibodies. Known molecular causes of hyper-IgM syndrome (308230) were excluded. The numbers of T, B, and NK lymphocytes and the proportions of the CD4+ and CD8+ T lymphocyte subsets were within normal ranges at the ages of 2 and 4 years, although he lacked memory B cells. Proliferative responses of T lymphocytes to mitogens were normal. </p><p>Ku et al. (2005) reported 2 unrelated boys with IMD33. They presented in the first years of life with recurrent severe systemic bacterial infections, including pneumococcus, H. influenzae, and Pseudomonas, as well as Candida. Immunoglobulin levels were normal, although IgM was low in 1 patient. Neither patient developed antibodies to pneumococcus, despite recurrent infections; patient 1 was unable to mount an antibody response to pneumococcal polysaccharide vaccination. However, both did respond to H. influenzae vaccine, and patient 2 mounted a response to tetanus toxoid. Neither patient had features of ectodermal dysplasia, although they had hypodontia and conical incisors. The mother of 1 patient had conical teeth, whereas the mother of the other patient had no clinical abnormalities. Heller et al. (2020) reported follow-up of one of the patients reported by Ku et al. (2005), noting that he was treated successfully with IVIg and lived an independent life at age 25. </p><p>Ku et al. (2007) described a 4.5-year-old boy, born to unrelated Belgian parents, with IMD33. He was noted to have hypodontia with conical incisors, but had only dry skin with normal sweating. He received all routine vaccinations with no adverse effect. At age 15 months, he was hospitalized for persistent fever with buccal cellulitis, caused by Streptococcus pneumoniae serotype 33. He recovered completely after intravenous cefuroxime for 7 days, but continued to have recurrent invasive infections with Streptococcus pneumoniae serotype 33. Beginning at age 23 months, he had serial vaccinations for pneumococcus, but again presented with recurrent invasive infections of Streptococcus pneumoniae serotype 23. Immunologic workup showed normal numbers of white cells and lymphocytes, normal Ig levels, and normal numbers of T, B, and NK cells. He had impaired antibody response to multiple vaccinations. Monthly prophylactic treatment with intravenous immunoglobulins was started when the patient was 3 years, 8 months old. Studies of patient fibroblasts showed impaired responses to stimulation by both IL1B and TNFA. This and other responses suggested a defect downstream of the TOLL/IL1R signaling pathway (see 603030). </p><p>Filipe-Santos et al. (2006) reported a multiplex American kindred (kindred A) in which 4 boys developed disseminated mycobacterial disease in an X-linked recessive pattern of inheritance. None of the patients had BCG vaccination, but all presented with disseminated M. avium infection between ages 5 and 14 years. Several developed other recurrent severe bacteremic infections with H. influenzae and Enterobacter. An unrelated boy of Italian/Serbian descent (kindred B) had BCG vaccination at age 2 months and presented with disseminated disease at age 2 years. At age 8 years, he was clinically well with no treatment. Another unrelated boy of German descent had recurrent infections in childhood, including bronchitis, pneumonitis, and H. influenzae, and presented at age 11 years with mycobacterial disease. In all patients, laboratory studies showed normal numbers of immune cells, normal T-cell proliferative responses, and normal immunoglobulins with proper antibody responses to vaccination, including pneumococcus, although this response was low and somewhat delayed. Detailed immunologic studies of all patients showed impaired CD40 signaling in monocytes and antigen-presenting cells, delayed nuclear accumulation of NFKB, and impaired secretion of IL12 by CD40L-expressing T cells. This resulted in impaired gamma-IFN production by T cells, ultimately resulting in increased susceptibility to mycobacterial infection. However, CD40-dependent proliferation and immunoglobulin class-switching of B cells was normal, and patients' blood and fibroblasts responded to other NFKB activators, such as TNFA, IL1B, and LPS. Some of the patients had sparse or conical teeth, which was long unrecognized, but no other features of ectodermal dysplasia. </p><p>Salt et al. (2008) reported a boy with recurrent infections, including Pneumocystis, CMV, and rotavirus. He had normal immunoglobulins and normal antibody response to diphtheria, tetanus, and H. influenzae B, but poor response to pneumococcal vaccination. Detailed immunologic studies showed impaired NK cell function and evidence of impaired T-cell receptor signaling through the NFKB pathway. Toll-like receptor function appeared to be normal. He had no evidence of ectodermal dysplasia. </p><p>Frans et al. (2017) reported a 2-year-old boy with IMD33. He presented at 1 year of age with otitis media and mastoiditis due to Pseudomonas infection, and later developed an EBV infection. Laboratory studies showed hypogammaglobulinemia, polysaccharide antibody deficiency, and low levels of switched memory B cells. Patient peripheral blood cells showed mildly impaired IL6 production in response to IL1B. He had no signs of ectodermal dysplasia. Treatment with immunoglobulin therapy resulted in clinical improvement. </p><p>Boisson et al. (2019) reported 2 brothers from a European family (family A) and a boy from a Japanese family (family B) with severe IMD33. The patients presented in infancy with severe systemic infections, including Klebsiella, respiratory syncytial virus, Enterobacter, E. coli, fungal infections, and HHV6. Although immunologic parameters were basically normal, 1 patient had no IgA and developed hypogammaglobulinemia with poor response to tetanus and H. influenzae vaccination. Two patients had other variable abnormalities, including low IgG levels, high white cells, transient neutropenia, lymphopenia, and low NK cell levels. TNFA production in response to LPS and IFNG was impaired in the 1 patient studied. None of the patients had features of ectodermal dysplasia; all died by 9 months of age. The mother in family A had mild features of IP. </p><p>Heller et al. (2020) reported a boy (patient 2) with IMD33 without ectodermal dysplasia. He had recurrent infections, including respiratory infections and oral HSV1. Immunoglobulin levels and tetanus antibodies were normal, but he had impaired response to polysaccharide vaccinations. He was successfully treated with IVIg. </p><p><strong><em>Clinical Variability</em></strong></p><p>
Hsu et al. (2018) reported 4 adult males, including 2 sibs, who presented with disseminated mycobacterial infections between 26 and 38 years of age. All had a remote history of recurrent childhood infections, including H. influenzae. One patient had documented low IgM, increased IgA, and poor responses to pneumococcal, influenza, and measles vaccination. None had clear evidence of ectodermal dysplasia. Three of the patients died from the mycobacterial infection; the fourth patient was unable to clear the infection. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Most patients with IMD33 respond well to IVIg and prophylactic antibiotics (Frans et al., 2017, Heller et al., 2020). </p><p>Some patients with IMD33 have had successful bone marrow transplantation, although the outcomes are variable and a few may have persistent colitis. The absence of ectodermal dysplasia may be associated with a better outcome (Abbott et al., 2014). </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of IMD33 in the families reported by Filipe-Santos et al. (2006) was consistent with X-linked recessive inheritance. </p>
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<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In a 15-year-old boy with IMD33, Orange et al. (2004) identified a de novo hemizygous splice site mutation in the IKBKG gene (300248.0018), resulting in the skipping of exon 9 and the deletion of 19 residues, some of which affected the leucine zipper (LZ) domain. Analysis of patient peripheral blood and buccal epithelial cells showed presence of both mutant and wildtype transcripts. Western blot analysis using an antibody against the LZ domain showed barely detectable IKBKG protein levels in patient cells, whereas an antibody against the zinc finger domain showed normal protein levels. The presence of some normal transcripts may explain immunodeficiency without signs of ectodermal dysplasia in this patient. In vitro functional expression studies showed impaired, but not absent, nuclear translocation of NFKB in stimulated patient B cells compared to controls, as well as variable response to TNFA. Orange et al. (2004) postulated that exon 9 may be dispensable for ectodermal development. </p><p>In the boy with IMD33 reported by Niehues et al. (2004), Puel et al. (2006) found a hemizygous 1-bp insertion in exon 2 of the NEMO gene (300248.0019), resulting in premature termination. Puel et al. (2006) showed that a Kozakian methionine codon located immediately downstream from the insertion allowed the reinitiation of translation. The findings suggested that residual production of an NH2-truncated NEMO protein was sufficient for normal fetal development and for the subsequent normal development of skin appendages, but was insufficient for the development of protective immune responses. </p><p>In 2 unrelated boys with IMD33, Ku et al. (2005) identified hemizygous mutations in the IKBKG gene (c.811_828del, 300248.0025 and L80P, 300248.0026). The mutations occurred in the coiled-coil domains of the protein. Western blot analysis of patient cells showed presence of the IKBKG protein, but fibroblasts had poor IL6 production in response to TNFA and IL1B compared to controls. The findings were consistent with a hypomorphic allele. The patients had hypodontia and conical teeth, but no other features of ectodermal dysplasia. One carrier mother also had conical teeth. </p><p>In affected males from 3 unrelated kindreds with IMD33, Filipe-Santos et al. (2006) identified 2 hemizygous missense mutations in the NEMO gene (E315A, 300248.0021 and R319Q, 300248.0022), both of which occurred in the LZ domain and were predicted to disrupt a salt bridge. Western blot and flow cytometric analyses showed normal expression of the mutant NEMO proteins. Patient mononuclear cells responded normally to most stimuli, but IFNG (147570) and IL12 (see 161561) production in response to PHA mitogen was impaired due to defective CD40 (109535) signaling in monocytes and dendritic cells. Filipe-Santos et al. (2006) concluded that mutations in NEMO that disrupt the leucine zipper domain provide a genetic etiology to X-linked recessive immunodeficiency with a particular susceptibility to mycobacterial disease. </p><p>In a Belgian boy with IMD33, Ku et al. (2007) identified a hemizygous mutation in the IKBKG gene (R173G; 300248.0023) that resulted in abnormal splicing. Western blot analysis showed decreased levels of the protein compared to controls, consistent with partial IKBKG deficiency. The mother was heterozygous for this mutation. </p><p>In a 2-year-old boy with IMD33, Frans et al. (2017) identified a hemizygous missense mutation in the IKBKG gene (E57K; 300248.0029). The mutation affected the N-terminal domain of the protein. His mother, who also carried the mutation, had a history of recurrent sinorespiratory infections, but no signs of IP. The variant was present at a low frequency (0.001) in the ExAC database. Patient peripheral blood cells showed mildly decreased IL6 production after stimulation with IL1B compared to controls. However, NEMO expression in patient fibroblasts was normal, and IKBA was degraded normally upon stimulation with IL1B or TNFA, suggesting a specific effect of the mutation. In vitro functional expression studies in IKBKG-null cells transfected with the mutation showed mildly impaired IL6 production after stimulation with TNFA or IL1B compared to controls. Frans et al. (2017) noted that mutations affecting the N terminus of NEMO tend to lead to decreased production of immunoglobulins; the authors postulated a hypomorphic effect of this variant. </p><p>In 4 adult males from 3 unrelated families with IMD33 manifest as disseminated mycobacterial infections, Hsu et al. (2018) identified hemizygous splice site mutations in the 5-prime untranslated region of the IKBKG gene. Three patients from 2 families (families A and B) carried a c.1-16G-C transversion (300248.0030) at the last base of the first untranslated exon. The patient from family C carried a hemizygous c.1-16+G-T in the adjacent intron. Analysis of cells from the patient with the c.1-16G-C mutation showed a splicing abnormality, resulting in a 110-bp deletion at the 3-prime end of exon 1. This molecular defect resulted in decreased transcript and protein levels compared to controls (about 30%). Cells derived from the patients in families A and B failed to upregulate cytokines in response to certain TLR agonists, suggesting that this IKBKG mutation is hypomorphic. </p><p>In 3 boys from 2 families of European and Japanese descent who died from IMD33, Boisson et al. (2019) identified a deep intronic mutation (IVS4+866C-T; 300248.0024) in the IKBKG gene that created a new splicing donor site and resulted in a 44-nucleotide pseudoexon that produced a frameshift. The boy in the European family inherited the mutation from his mother, who had mild incontinentia pigmenti. The mutation in the Japanese boy occurred de novo. The variant was not found in the 1000 Genomes Project or gnomAD databases. In vitro studies showed impaired, but not abolished NFKB activation. Aberrant splicing rates differed between cell types, with wildtype NEMO mRNA and protein levels ranging from barely detectable in leukocytes to residual amounts in induced pluripotent stem cell-derived (iPSC-derived) macrophages, and higher levels in fibroblasts and iPSC-derived neuronal precursor cells. </p><p>In a boy (patient 1) with IMD33, Abbott et al. (2014) identified a hemizygous missense mutation in the first coiled-coil domain of the NEMO gene (D113N; 300248.0032). The patient had previously been reported in detail by Salt et al. (2008); his unaffected mother also carried the mutation. </p><p>Heller et al. (2020) identified a hemizygous D113N mutation in a boy with IMD33. His mother and grandmother, who were presumably unaffected, carried the heterozygous mutation. However, the proband's 40-year-old male cousin, who did not have recurrent infections and had normal response to polysaccharide antibodies, was hemizygous for D113N. Heller et al. (2020) noted that the allele frequency for this variant is rather high (0.009572), and that some suggest it may be a polymorphism (see Fusco et al., 2004). </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In general, patients with NKBKG mutations affecting the C-terminal zinc finger domain have a more severe clinical course with ectodermal dysplasia, whereas patients with mutations affecting the leucine zipper domain or the more N-terminal coiled-coil domains have a less severe clinical course and usually do not show features of ectodermal dysplasia, although isolated hypodontia and/or conical teeth may be present (Orange et al., 2004, Heller et al., 2020). </p>
</span>
<div>
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</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Abbott, J. K., Quinones, R. R., de la Morena, M. T., Gelfand, E. W.
<strong>Successful hematopoietic cell transplantation in patients with unique NF-kappa-B essential modulator (NEMO) mutations. (Letter)</strong>
Bone Marrow Transplant. 49: 1446-1447, 2014.
[PubMed: 25068423]
[Full Text: https://doi.org/10.1038/bmt.2014.157]
</p>
</li>
<li>
<p class="mim-text-font">
Boisson, B., Honda, Y., Ajiro, M., Bustamante, J., Bendavid, M., Gennery, A. R., Kawasaki, Y., Ichishima, J., Osawa, M., Nihira, H., Shiba, T., Tanaka, T., and 16 others.
<strong>Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.</strong>
J. Clin. Invest. 129: 583-597, 2019.
[PubMed: 30422821]
[Full Text: https://doi.org/10.1172/JCI124011]
</p>
</li>
<li>
<p class="mim-text-font">
Filipe-Santos, O., Bustamante, J., Haverkamp, M. H., Vinolo, E., Ku, C.-L., Puel, A., Frucht, D. M., Christel, K., von Bernuth, H., Jouanguy, E., Feinberg, J., Durandy, A., and 25 others.
<strong>X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.</strong>
J. Exp. Med. 203: 1745-1759, 2006.
[PubMed: 16818673]
[Full Text: https://doi.org/10.1084/jem.20060085]
</p>
</li>
<li>
<p class="mim-text-font">
Frans, G., van der Werff Ten Bosch, J., Moens, L., Gijsbers, R., Changi-Ashtiani, M., Rokni-Zadeh, H., Shahrooei, M., Wuyts, G., Meyts, I., Bossuyt, X.
<strong>Functional evaluation of an IKBK variant suspected to cause immunodeficiency without ectodermal dysplasia.</strong>
J. Clin. Immun. 37: 801-810, 2017.
[PubMed: 28993958]
[Full Text: https://doi.org/10.1007/s10875-017-0448-9]
</p>
</li>
<li>
<p class="mim-text-font">
Fusco, F., Bardaro, T., Fimiani, G., Mercadante, V., Miano, M. G., Falco, G., Israel, A., Courtois, G., D'Urso, M., Ursini, M. V.
<strong>Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappa-B activation.</strong>
Hum. Molec. Genet. 13: 1763-1773, 2004.
[PubMed: 15229184]
[Full Text: https://doi.org/10.1093/hmg/ddh192]
</p>
</li>
<li>
<p class="mim-text-font">
Heller, S., Kolsch, U., Magg, T., Kruger, R., Scheuern, A., Schneider, H., Eichinger, A., Wahn, V., Unterwalder, N., Lorenz, M., Schwarz, K., Meisel, C., Schulz, A., Hauck, F., von Bernuth, H.
<strong>T cell impairment is predictive for a severe clinical course in NEMO deficiency.</strong>
J. Clin. Immun. 40: 421-434, 2020.
[PubMed: 31965418]
[Full Text: https://doi.org/10.1007/s10875-019-00728-y]
</p>
</li>
<li>
<p class="mim-text-font">
Hsu, A. P., Zerbe, C. S., Foruraghi, L., Iovine, N. L., Leiding, J. W., Mushatt, D. M., Wild, L., Kuhns, D. B., Holland, S. M.
<strong>IKBKG (NEMO) 5-prime untranslated splice mutations lead to severe, chronic disseminated mycobacterial infections.</strong>
Clin. Infect. Dis. 67: 456-459, 2018.
[PubMed: 29534156]
[Full Text: https://doi.org/10.1093/cid/ciy186]
</p>
</li>
<li>
<p class="mim-text-font">
Ku, C.-L., Dupuis-Girod, S., Dittrich, A.-M., Bustamante, J., Santos, O. F., Schulze, I., Bertrand, Y., Couly, G., Bodemer, C., Bossuyt, X., Picard, C., Casanova, J.-L.
<strong>NEMO mutations in 2 unrelated boys with severe infections and conical teeth.</strong>
Pediatrics 115: e615, 2005. Note: Electronic Article.
[PubMed: 15833888]
[Full Text: https://doi.org/10.1542/peds.2004-1754]
</p>
</li>
<li>
<p class="mim-text-font">
Ku, C.-L., Picard, C., Erdos, M., Jeurissen, A., Bustamante, J., Puel, A., von Bernuth, H., Filipe-Santos, O., Chang, H.-H., Lawrence, T., Raes, M., Marodi, L., Bossuyt, X., Casanova, J.-L.
<strong>IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.</strong>
J. Med. Genet. 44: 16-23, 2007.
[PubMed: 16950813]
[Full Text: https://doi.org/10.1136/jmg.2006.044446]
</p>
</li>
<li>
<p class="mim-text-font">
Niehues, T., Reichenbach, J., Neubert, J., Gudowius, S., Puel, A., Horneff, G., Lainka, E., Dirksen, U., Schroten, H., Doffinger, R., Casanova, J. L., Wahn, V.
<strong>Nuclear factor kappa B essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.</strong>
J. Allergy Clin. Immun. 114: 1456-1462, 2004.
[PubMed: 15577852]
[Full Text: https://doi.org/10.1016/j.jaci.2004.08.047]
</p>
</li>
<li>
<p class="mim-text-font">
Orange, J. S., Jain, A., Ballas, Z. K., Schneider, L. C., Geha, R. S., Bonilla, F. A.
<strong>The presentation and natural history of immunodeficiency caused by nuclear factor kappa-B essential modulator mutation.</strong>
J. Allergy Clin. Immun. 113: 725-733, 2004.
[PubMed: 15100680]
[Full Text: https://doi.org/10.1016/j.jaci.2004.01.762]
</p>
</li>
<li>
<p class="mim-text-font">
Orange, J. S., Levy, O., Brodeur, S. R., Krzewski, K., Roy, R. M., Niemela, J. E., Fleisher, T. A., Bonilla, F. A., Geha, R. S.
<strong>Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.</strong>
J. Allergy Clin. Immun. 114: 650-656, 2004.
[PubMed: 15356572]
[Full Text: https://doi.org/10.1016/j.jaci.2004.06.052]
</p>
</li>
<li>
<p class="mim-text-font">
Puel, A., Reichenbach, J., Bustamante, J., Ku, C.-L., Feinberg, J., Doffinger, R., Bonnet, M., Filipe-Santos, O., de Beaucoudrey, L., Durandy, A., Horneff, G., Novelli, F., Wahn, V., Smahi, A., Israel, A., Niehues, T., Casanova, J.-L.
<strong>The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.</strong>
Am. J. Hum. Genet. 78: 691-701, 2006.
[PubMed: 16532398]
[Full Text: https://doi.org/10.1086/501532]
</p>
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<p class="mim-text-font">
Salt, B. H., Niemela, J. E., Pandey, R., Hanson, E. P., Deering, R. P., Quinones, R., Jain, A., Orange, J. S., Gelfand, E. W.
<strong>IKBKG (nuclear factor-kappa-B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.</strong>
J. Allergy Clin. Immun. 121: 976-982, 2008.
[PubMed: 18179816]
[Full Text: https://doi.org/10.1016/j.jaci.2007.11.014]
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Cassandra L. Kniffin - updated : 06/03/2020<br>Matthew B. Gross - updated : 2/5/2007
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