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<!--
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||
UID=340953
|
||
ConceptID=C1855755
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal circulating immunoglobulin concentration</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340953</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855755</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormal immunoglobulin level</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0010701">HP:0010701</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An abnormal deviation from normal levels of immunoglobulins in blood. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855755[DISCUI]&test_type=Clinical" ref="ncbi_uid=340953">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340953" ref="ncbi_uid=340953">V</a></span></span><span class="TLline">Abnormal circulating immunoglobulin concentration</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867388" ref="tree=MeSH" title="MedGen record for Abnormality of the immune system">Abnormality of the immune system</a></span><ul><li><span class="TLline"><a href="/medgen/869194" ref="tree=MeSH" title="MedGen record for Abnormality of immune system physiology">Abnormality of immune system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1780121" ref="tree=MeSH" title="MedGen record for Abnormal leukocyte physiology">Abnormal leukocyte physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1627345" ref="tree=MeSH" title="MedGen record for Abnormal lymphocyte physiology">Abnormal lymphocyte physiology</a></span><ul><li><span class="TLline"><a href="/medgen/341411" ref="tree=MeSH" title="MedGen record for Abnormality of B cell physiology">Abnormality of B cell physiology</a></span><ul><li><span class="matched_ds">Abnormal circulating immunoglobulin concentration</span><ul><li><span class="TLline"><a href="/medgen/1706440" ref="tree=MeSH" title="MedGen record for Abnormal circulating IgA concentration">Abnormal circulating IgA concentration</a></span><ul><li><span class="TLline"><a href="/medgen/57934" ref="tree=MeSH" title="MedGen record for Decreased circulating IgA concentration">Decreased circulating IgA concentration</a></span><ul><li><span class="TLline"><a href="/medgen/871140" ref="tree=MeSH" title="MedGen record for Decreased circulating total IgA">Decreased circulating total IgA</a></span></li><li><span class="TLline"><a href="/medgen/868762" ref="tree=MeSH" title="MedGen record for Partial IgA deficiency">Partial IgA deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1714911" ref="tree=MeSH" title="MedGen record for Transient decreased circulating IgA">Transient decreased circulating IgA</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66800" ref="tree=MeSH" title="MedGen record for Increased circulating IgA concentration">Increased circulating IgA concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1697825" ref="tree=MeSH" title="MedGen record for Monoclonal elevation of circulating IgA">Monoclonal elevation of circulating IgA</a></span></li><li><span class="TLline"><a href="/medgen/1685059" ref="tree=MeSH" title="MedGen record for Oligoclonal elevation of circulating IgA">Oligoclonal elevation of circulating IgA</a></span></li><li><span class="TLline"><a href="/medgen/1704010" ref="tree=MeSH" title="MedGen record for Polyclonal elevation of circulating IgA">Polyclonal elevation of circulating IgA</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1695199" ref="tree=MeSH" title="MedGen record for Abnormal circulating IgD concentration">Abnormal circulating IgD concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1679062" ref="tree=MeSH" title="MedGen record for Decreased circulating IgD concentration">Decreased circulating IgD concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1710466" ref="tree=MeSH" title="MedGen record for Chronic absent circulating IgD">Chronic absent circulating IgD</a></span></li><li><span class="TLline"><a href="/medgen/1713830" ref="tree=MeSH" title="MedGen record for Chronic decreased circulating IgD">Chronic decreased circulating IgD</a></span></li><li><span class="TLline"><a href="/medgen/1710540" ref="tree=MeSH" title="MedGen record for Transient decreased circulating IgD">Transient decreased circulating IgD</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/372146" ref="tree=MeSH" title="MedGen record for Increased circulating IgD concentration">Increased circulating IgD concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1697255" ref="tree=MeSH" title="MedGen record for Abnormal circulating IgE concentration">Abnormal circulating IgE concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1714318" ref="tree=MeSH" title="MedGen record for Decreased circulating IgE concentration">Decreased circulating IgE concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1719605" ref="tree=MeSH" title="MedGen record for Chronic absent circulating IgE">Chronic absent circulating IgE</a></span></li><li><span class="TLline"><a href="/medgen/1717165" ref="tree=MeSH" title="MedGen record for Chronic decreased circulating IgE concentration">Chronic decreased circulating IgE concentration</a></span></li><li><span class="TLline"><a href="/medgen/1713988" ref="tree=MeSH" title="MedGen record for Transient decreased circulating IgE concentration">Transient decreased circulating IgE concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/116018" ref="tree=MeSH" title="MedGen record for Increased circulating IgE concentration">Increased circulating IgE concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1685197" ref="tree=MeSH" title="MedGen record for Monoclonal elevated circulating IgE concentration">Monoclonal elevated circulating IgE concentration</a></span></li><li><span class="TLline"><a href="/medgen/1703943" ref="tree=MeSH" title="MedGen record for Oligoclonal elevated circulating IgE concentration">Oligoclonal elevated circulating IgE concentration</a></span></li><li><span class="TLline"><a href="/medgen/1698812" ref="tree=MeSH" title="MedGen record for Polyclonal elevated circulating IgE concentration">Polyclonal elevated circulating IgE concentration</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1687987" ref="tree=MeSH" title="MedGen record for Abnormal circulating IgG concentration">Abnormal circulating IgG concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1720114" ref="tree=MeSH" title="MedGen record for Decreased circulating IgG concentration">Decreased circulating IgG concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1691048" ref="tree=MeSH" title="MedGen record for Decreased circulating IgG subclass concentration">Decreased circulating IgG subclass concentration</a></span></li><li><span class="TLline"><a href="/medgen/1692727" ref="tree=MeSH" title="MedGen record for Decreased circulating total IgG concentration">Decreased circulating total IgG concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/347032" ref="tree=MeSH" title="MedGen record for Increased circulating IgG concentration">Increased circulating IgG concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1694486" ref="tree=MeSH" title="MedGen record for Increased circulating IgG subclass">Increased circulating IgG subclass</a></span></li><li><span class="TLline"><a href="/medgen/1754251" ref="tree=MeSH" title="MedGen record for Increased circulating precipitin level">Increased circulating precipitin level</a></span></li><li><span class="TLline"><a href="/medgen/1685918" ref="tree=MeSH" title="MedGen record for Monoclonal elevation of IgG">Monoclonal elevation of IgG</a></span></li><li><span class="TLline"><a href="/medgen/1698010" ref="tree=MeSH" title="MedGen record for Oligoclonal elevation of circulating IgG">Oligoclonal elevation of circulating IgG</a></span></li><li><span class="TLline"><a href="/medgen/1697965" ref="tree=MeSH" title="MedGen record for Polyclonal elevation of circulating IgG">Polyclonal elevation of circulating IgG</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1688699" ref="tree=MeSH" title="MedGen record for Abnormal circulating IgM concentration">Abnormal circulating IgM concentration</a></span><ul><li><span class="TLline"><a href="/medgen/116095" ref="tree=MeSH" title="MedGen record for Decreased circulating total IgM">Decreased circulating total IgM</a></span></li><li><span class="TLline"><a href="/medgen/333454" ref="tree=MeSH" title="MedGen record for Increased circulating IgM level">Increased circulating IgM level</a></span><ul><li><span class="TLline"><a href="/medgen/1694510" ref="tree=MeSH" title="MedGen record for Oligoclonal elevation of circulating IgM">Oligoclonal elevation of circulating IgM</a></span></li><li><span class="TLline"><a href="/medgen/871141" ref="tree=MeSH" title="MedGen record for Polyclonal elevation of IgM">Polyclonal elevation of IgM</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1864160" ref="tree=MeSH" title="MedGen record for Absent circulating immunoglobulin kappa chain">Absent circulating immunoglobulin kappa chain</a></span></li><li><span class="TLline"><a href="/medgen/892481" ref="tree=MeSH" title="MedGen record for Decreased circulating antibody concentration">Decreased circulating antibody concentration</a></span><ul><li><span class="TLline"><a href="/medgen/168" ref="tree=MeSH" title="MedGen record for Agammaglobulinemia">Agammaglobulinemia</a></span><ul><li><span class="TLline"><a href="/medgen/978173" ref="tree=MeSH" title="MedGen record for Activated PI3K-delta syndrome">Activated PI3K-delta syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1639972" ref="tree=MeSH" title="MedGen record for Isolated agammaglobulinemia">Isolated agammaglobulinemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41679" ref="tree=MeSH" title="MedGen record for Dysgammaglobulinemia">Dysgammaglobulinemia</a></span><ul><li><span class="TLline"><a href="/medgen/124420" ref="tree=MeSH" title="MedGen record for Hyperimmunoglobulin M syndrome">Hyperimmunoglobulin M syndrome</a></span></li><li><span class="TLline"><a href="/medgen/56446" ref="tree=MeSH" title="MedGen record for Selective IgG subclass deficiency">Selective IgG subclass deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/233072" ref="tree=MeSH" title="MedGen record for Panhypogammaglobulinemia">Panhypogammaglobulinemia</a></span></li><li><span class="TLline"><a href="/medgen/124421" ref="tree=MeSH" title="MedGen record for Transient hypogammaglobulinemia of infancy">Transient hypogammaglobulinemia of infancy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1713383" ref="tree=MeSH" title="MedGen record for Increased circulating antibody concentration">Increased circulating antibody concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1697442" ref="tree=MeSH" title="MedGen record for Increased hepatitis A virus antibody level">Increased hepatitis A virus antibody level</a></span></li><li><span class="TLline"><a href="/medgen/1705127" ref="tree=MeSH" title="MedGen record for Increased hepatitis B virus antibody level">Increased hepatitis B virus antibody level</a></span></li><li><span class="TLline"><a href="/medgen/1700717" ref="tree=MeSH" title="MedGen record for Increased hepatitis C virus antibody level">Increased hepatitis C virus antibody level</a></span></li><li><span class="TLline"><a href="/medgen/10577" ref="tree=MeSH" title="MedGen record for Paraproteinemia">Paraproteinemia</a></span><ul><li><span class="TLline"><a href="/medgen/75674" ref="tree=MeSH" title="MedGen record for AL amyloidosis">AL amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/3673" ref="tree=MeSH" title="MedGen record for Cryoglobulinemia">Cryoglobulinemia</a></span></li><li><span class="TLline"><a href="/medgen/5469" ref="tree=MeSH" title="MedGen record for Heavy chain disease">Heavy chain disease</a></span></li><li><span class="TLline"><a href="/medgen/1393831" ref="tree=MeSH" title="MedGen record for Heavy-chain paraproteinemia">Heavy-chain paraproteinemia</a></span></li><li><span class="TLline"><a href="/medgen/1390883" ref="tree=MeSH" title="MedGen record for Light-chain paraproteinemia">Light-chain paraproteinemia</a></span></li><li><span class="TLline"><a href="/medgen/210153" ref="tree=MeSH" title="MedGen record for monoclonal gammopathy">monoclonal gammopathy</a></span></li><li><span class="TLline"><a href="/medgen/44485" ref="tree=MeSH" title="MedGen record for Monoclonal gammopathy of undetermined significance">Monoclonal gammopathy of undetermined significance</a></span></li><li><span class="TLline"><a href="/medgen/1381967" ref="tree=MeSH" title="MedGen record for Monoclonal immunoglobulin M proteinemia">Monoclonal immunoglobulin M proteinemia</a></span></li><li><span class="TLline"><a href="/medgen/10122" ref="tree=MeSH" title="MedGen record for Multiple myeloma">Multiple myeloma</a></span></li><li><span class="TLline"><a href="/medgen/39276" ref="tree=MeSH" title="MedGen record for POEMS syndrome">POEMS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/280653" ref="tree=MeSH" title="MedGen record for Smoldering plasma cell myeloma">Smoldering plasma cell myeloma</a></span></li><li><span class="TLline"><a href="/medgen/6174" ref="tree=MeSH" title="MedGen record for Waldenstrom macroglobulinemia">Waldenstrom macroglobulinemia</a></span></li><li><span class="TLline"><a href="/medgen/1391402" ref="tree=MeSH" title="MedGen record for Whole-immunoglobulin paraproteinemia">Whole-immunoglobulin paraproteinemia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1702753" ref="tree=MeSH" title="MedGen record for Increased circulating specific IgE antibody concentration">Increased circulating specific IgE antibody concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1692565" ref="tree=MeSH" title="MedGen record for Increased anti-alpha-gal IgE antibody level">Increased anti-alpha-gal IgE antibody level</a></span></li><li><span class="TLline"><a href="/medgen/1670998" ref="tree=MeSH" title="MedGen record for Increased anti-animal protein IgE antibody level">Increased anti-animal protein IgE antibody level</a></span><ul><li><span class="TLline"><a href="/medgen/1694186" ref="tree=MeSH" title="MedGen record for Increased anti-animal dander IgE antibody level">Increased anti-animal dander IgE antibody level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1671002" ref="tree=MeSH" title="MedGen record for Increased anti-bacteria IgE antibody level">Increased anti-bacteria IgE antibody level</a></span></li><li><span class="TLline"><a href="/medgen/1670938" ref="tree=MeSH" title="MedGen record for Increased anti-drug IgE antibody level">Increased anti-drug IgE antibody level</a></span></li><li><span class="TLline"><a href="/medgen/1670996" ref="tree=MeSH" title="MedGen record for Increased anti-dust mite IgE antibody level">Increased anti-dust mite IgE antibody level</a></span><ul><li><span class="TLline"><a href="/medgen/1705428" ref="tree=MeSH" title="MedGen record for Increased anti-house dust mite IgE antibody level">Increased anti-house dust mite IgE antibody level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1671035" ref="tree=MeSH" title="MedGen record for Increased anti-feather IgE antibody level">Increased anti-feather IgE antibody level</a></span></li><li><span class="TLline"><a href="/medgen/1670953" ref="tree=MeSH" title="MedGen record for Increased anti-food allergen IgE antibody level">Increased anti-food allergen IgE antibody level</a></span><ul><li><span class="TLline"><a href="/medgen/1671103" ref="tree=MeSH" title="MedGen record for Increased anti-dairy protein IgE antibody level">Increased anti-dairy protein IgE antibody level</a></span></li><li><span class="TLline"><a href="/medgen/1671005" ref="tree=MeSH" title="MedGen record for Increased anti-egg IgE antibody level">Increased anti-egg IgE antibody level</a></span></li><li><span class="TLline"><a href="/medgen/1671074" ref="tree=MeSH" title="MedGen record for Increased anti-gluten IgE antibody level">Increased anti-gluten IgE antibody level</a></span></li><li><span class="TLline"><a href="/medgen/1670988" ref="tree=MeSH" title="MedGen record for Increased anti-meat allergen IgE antibody level">Increased anti-meat allergen IgE antibody level</a></span></li><li><span class="TLline"><a href="/medgen/1671109" ref="tree=MeSH" title="MedGen record for Increased anti-nut food product IgE antibody level">Increased anti-nut food product IgE antibody level</a></span></li><li><span class="TLline"><a href="/medgen/1671029" ref="tree=MeSH" title="MedGen record for Increased anti-plant based food allergen IgE antibody level">Increased anti-plant based food allergen IgE antibody level</a></span></li><li><span class="TLline"><a href="/medgen/1671012" ref="tree=MeSH" title="MedGen record for Increased anti-seafood IgE antibody level">Increased anti-seafood IgE antibody level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1670976" ref="tree=MeSH" title="MedGen record for Increased anti-fungi IgE antibody level">Increased anti-fungi IgE antibody level</a></span></li><li><span class="TLline"><a href="/medgen/1671045" ref="tree=MeSH" title="MedGen record for Increased anti-insect IgE antibody level">Increased anti-insect IgE antibody level</a></span><ul><li><span class="TLline"><a href="/medgen/1670944" ref="tree=MeSH" title="MedGen record for Increased anti-venom IgE antibody level">Increased anti-venom IgE antibody level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1670939" ref="tree=MeSH" title="MedGen record for Increased anti-parasite IgE antibody level">Increased anti-parasite IgE antibody level</a></span></li><li><span class="TLline"><a href="/medgen/1671026" ref="tree=MeSH" title="MedGen record for Increased anti-plant product IgE antibody level">Increased anti-plant product IgE antibody level</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_164078"><div><strong>Schimke immuno-osseous dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164078</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0877024</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small ilia with shallow dysplastic acetabular fossae, and small deformed capital femoral epiphyses. Nearly all affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease. The majority of tested individuals have T cell deficiency and an associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with a greater risk of death during childhood to a juvenile or milder later-onset form with likely survival into adulthood if renal disease is appropriately treated.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/164078">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_342415"><div><strong>PA POLYMORPHISM OF ALPHA-2-GLOBULIN</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342415</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850104</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Genetic Function</dd></dl></div></div></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684816"><div><strong>Neutropenia, severe congenital, 8, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684816</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5203411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant severe congenital neutropenia-8 (SCN8) is a pleiotropic disorder with the consistent feature of decreased neutrophils associated with recurrent bacterial infections apparent from early infancy. Other hematologic parameters are usually normal, although some patients may have mild anemia. Bone marrow examination shows hypocellularity with arrested maturation of the granulocyte lineage at the level of promyelocytes or myeloblasts. Treatment with granulocyte colony-stimulating factor (GCSF; 138970) is usually ineffective or only partially effective, whereas hematopoietic bone marrow transplantation is effective. A subset of patients have additional features, including exocrine pancreatic insufficiency, which resembles Shwachman-Diamond syndrome (see SDS1, 260400), and/or neurologic deficits, including developmental delay, impaired intellectual development, speech delay, and/or autistic features (summary by Carapito et al., 2017 and Bellanne-Chantelot et al., 2018). For discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684816">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684816" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neutropenia, severe congenital, 8, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PA POLYMORPHISM OF ALPHA-2-GLOBULIN</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_164078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schimke immuno-osseous dysplasia</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25146439">Nanomedicines based drug delivery systems for anti-cancer targeting and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jain V,
|
||
Jain S,
|
||
Mahajan SC</span><br />
|
||
<span class="medgenPMjournal">Curr Drug Deliv</span>
|
||
2015;12(2):177-91.
|
||
doi: 10.2174/1567201811666140822112516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25146439" target="_blank">25146439</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8711494">Management of acquired coagulation disorders in emergency and intensive-care medicine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Staudinger T,
|
||
Locker GJ,
|
||
Frass M</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
1996;22(1):93-104.
|
||
doi: 10.1055/s-2007-998995.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8711494" target="_blank">8711494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1985820">Immunologic aspects of carbamazepine treatment in epileptic patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pacifici R,
|
||
Paris L,
|
||
Di Carlo S,
|
||
Pichini S,
|
||
Zuccaro P</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
1991 Jan-Feb;32(1):122-7.
|
||
doi: 10.1111/j.1528-1157.1991.tb05622.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1985820" target="_blank">1985820</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20circulating%20immunoglobulin%20concentration)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (5)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38500292">Phase 2 study of the efficacy and safety of ponsegromab in patients with cancer cachexia: PROACC-1 study design.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groarke JD,
|
||
Crawford J,
|
||
Collins SM,
|
||
Lubaczewski SL,
|
||
Breen DM,
|
||
Harrington MA,
|
||
Jacobs I,
|
||
Qiu R,
|
||
Revkin J,
|
||
Rossulek MI,
|
||
Saxena AR</span><br />
|
||
<span class="medgenPMjournal">J Cachexia Sarcopenia Muscle</span>
|
||
2024 Jun;15(3):1054-1061.
|
||
Epub 2024 Mar 18
|
||
doi: 10.1002/jcsm.13435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38500292" target="_blank">38500292</a><a href="/pmc/articles/PMC11154777" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24037491">Natural Antibodies Against Sialoglycans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shilova N,
|
||
Huflejt ME,
|
||
Vuskovic M,
|
||
Obukhova P,
|
||
Navakouski M,
|
||
Khasbiullina N,
|
||
Pazynina G,
|
||
Galanina O,
|
||
Bazhenov A,
|
||
Bovin N</span><br />
|
||
<span class="medgenPMjournal">Top Curr Chem</span>
|
||
2015;366:169-81.
|
||
doi: 10.1007/128_2013_469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24037491" target="_blank">24037491</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11838652">Acquired von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar S,
|
||
Pruthi RK,
|
||
Nichols WL</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
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<div class="portlet_content ln"><span class="medgenPMauthor">Charlesworth JA,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20circulating%20immunoglobulin%20concentration%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (73)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39733605">PIgR Autoantibody-abundant Circulating Vesicles Contributes to Biliary Injury in Biliary Atresia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
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<div class="nl"><a target="_blank" href="/pubmed/28150195">Multifunctional Liposomes.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27908304">The role and diagnostic value of cell-free DNA in systemic lupus erythematosus.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Truszewska A,
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Foroncewicz B,
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Pączek L</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/24037491">Natural Antibodies Against Sialoglycans.</a></div>
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Huflejt ME,
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Vuskovic M,
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Obukhova P,
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Navakouski M,
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Galanina O,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20circulating%20immunoglobulin%20concentration%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (53)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38500292">Phase 2 study of the efficacy and safety of ponsegromab in patients with cancer cachexia: PROACC-1 study design.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Groarke JD,
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Crawford J,
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Collins SM,
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Lubaczewski SL,
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Breen DM,
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Saxena AR</span><br />
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2024 Jun;15(3):1054-1061.
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Epub 2024 Mar 18
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<span class="bold">PMID: </span><a href="/pubmed/38500292" target="_blank">38500292</a><a href="/pmc/articles/PMC11154777" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Aryasomayajula B,
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Salzano G,
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Torchilin VP</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/28150195" target="_blank">28150195</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/11838652" target="_blank">11838652</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20circulating%20immunoglobulin%20concentration%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (51)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="portlet_content ln"><span class="medgenPMauthor">Viera S,
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<div class="portlet_content ln"><span class="medgenPMauthor">Truszewska A,
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Foroncewicz B,
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Pączek L</span><br />
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Epub 2016 Nov 14
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<span class="bold">PMID: </span><a href="/pubmed/27908304" target="_blank">27908304</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/39733605">PIgR Autoantibody-abundant Circulating Vesicles Contributes to Biliary Injury in Biliary Atresia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
|
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Zhou Y,
|
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Lu Y,
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Wu B,
|
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Peng S,
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Cai W,
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Xiao Y</span><br />
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<span class="medgenPMjournal">J Pediatr Surg</span>
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2025 Mar;60(3):162116.
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Epub 2024 Dec 20
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doi: 10.1016/j.jpedsurg.2024.162116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39733605" target="_blank">39733605</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38500292">Phase 2 study of the efficacy and safety of ponsegromab in patients with cancer cachexia: PROACC-1 study design.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groarke JD,
|
||
Crawford J,
|
||
Collins SM,
|
||
Lubaczewski SL,
|
||
Breen DM,
|
||
Harrington MA,
|
||
Jacobs I,
|
||
Qiu R,
|
||
Revkin J,
|
||
Rossulek MI,
|
||
Saxena AR</span><br />
|
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<span class="medgenPMjournal">J Cachexia Sarcopenia Muscle</span>
|
||
2024 Jun;15(3):1054-1061.
|
||
Epub 2024 Mar 18
|
||
doi: 10.1002/jcsm.13435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38500292" target="_blank">38500292</a><a href="/pmc/articles/PMC11154777" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27908304">The role and diagnostic value of cell-free DNA in systemic lupus erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Truszewska A,
|
||
Foroncewicz B,
|
||
Pączek L</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Rheumatol</span>
|
||
2017 Mar-Apr;35(2):330-336.
|
||
Epub 2016 Nov 14
|
||
<span class="bold">PMID: </span><a href="/pubmed/27908304" target="_blank">27908304</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24037491">Natural Antibodies Against Sialoglycans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shilova N,
|
||
Huflejt ME,
|
||
Vuskovic M,
|
||
Obukhova P,
|
||
Navakouski M,
|
||
Khasbiullina N,
|
||
Pazynina G,
|
||
Galanina O,
|
||
Bazhenov A,
|
||
Bovin N</span><br />
|
||
<span class="medgenPMjournal">Top Curr Chem</span>
|
||
2015;366:169-81.
|
||
doi: 10.1007/128_2013_469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24037491" target="_blank">24037491</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/939047">Measles infection. Involvement of the complement system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Charlesworth JA,
|
||
Pussell BA,
|
||
Roy LP,
|
||
Robertson MR,
|
||
Beveridge J</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Immunol</span>
|
||
1976 Jun;24(3):401-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/939047" target="_blank">939047</a><a href="/pmc/articles/PMC1538541" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20circulating%20immunoglobulin%20concentration%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (64)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1855755%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1855755%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1855755%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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