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<!--
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||
UID=1713383
|
||
ConceptID=C5397581
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Increased circulating antibody concentration</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1713383</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.">C5397581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Increased antibody level in blood</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0010702">HP:0010702</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>
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||
<div class="portlet_content ln">An increased level of gamma globulin (immunoglobulin) in the 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 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>
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<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=C5397581[DISCUI]&test_type=Clinical" ref="ncbi_uid=1713383">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Increased circulating antibody concentration</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="TLline"><a href="/medgen/340953" ref="tree=MeSH" title="MedGen record for Abnormal circulating immunoglobulin concentration">Abnormal circulating immunoglobulin concentration</a></span><ul><li><span class="matched_ds">Increased circulating antibody concentration</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><ul><li><span class="TLline"><a href="/medgen/107462" ref="tree=MeSH" title="MedGen record for Primary localized amyloidosis">Primary localized amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/129028" ref="tree=MeSH" title="MedGen record for Primary systemic amyloidosis">Primary systemic amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1770032" ref="tree=MeSH" title="MedGen record for Recurrent AL Amyloidosis">Recurrent AL Amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1616091" 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ref="tree=MeSH" title="MedGen record for Non-secretory plasma cell myeloma">Non-secretory plasma cell myeloma</a></span></li><li><span class="TLline"><a href="/medgen/857662" ref="tree=MeSH" title="MedGen record for Osteosclerotic plasma cell myeloma">Osteosclerotic plasma cell myeloma</a></span></li><li><span class="TLline"><a href="/medgen/9733" ref="tree=MeSH" title="MedGen record for Plasma cell leukemia">Plasma cell leukemia</a></span></li><li><span class="TLline"><a href="/medgen/237158" ref="tree=MeSH" title="MedGen record for Recurrent Multiple Myeloma">Recurrent Multiple Myeloma</a></span></li><li><span class="TLline"><a href="/medgen/1636255" ref="tree=MeSH" title="MedGen record for Refractory Multiple Myeloma">Refractory Multiple Myeloma</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></ul></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/6174" ref="tree=MeSH" title="MedGen record for Waldenstrom macroglobulinemia">Waldenstrom macroglobulinemia</a></span><ul><li><span class="TLline"><a href="/medgen/422439" ref="tree=MeSH" title="MedGen record for Familial Waldenstrom Macroglobulinemia">Familial Waldenstrom Macroglobulinemia</a></span></li><li><span class="TLline"><a href="/medgen/320546" ref="tree=MeSH" title="MedGen record for Macroglobulinemia, Waldenstrom, 1">Macroglobulinemia, Waldenstrom, 1</a></span></li><li><span class="TLline"><a href="/medgen/355856" ref="tree=MeSH" title="MedGen record for Macroglobulinemia, Waldenstrom, 2">Macroglobulinemia, Waldenstrom, 2</a></span></li><li><span class="TLline"><a href="/medgen/762784" ref="tree=MeSH" title="MedGen record for Macroglobulinemia, Waldenstrom, somatic">Macroglobulinemia, Waldenstrom, somatic</a></span></li><li><span class="TLline"><a href="/medgen/167281" ref="tree=MeSH" title="MedGen record for Recurrent Waldenstrom Macroglobulinemia">Recurrent Waldenstrom Macroglobulinemia</a></span></li><li><span class="TLline"><a href="/medgen/1635976" ref="tree=MeSH" title="MedGen record for Refractory Waldenstrom Macroglobulinemia">Refractory Waldenstrom Macroglobulinemia</a></span></li><li><span class="TLline"><a href="/medgen/1650906" ref="tree=MeSH" title="MedGen record for Smoldering Waldenstrom Macroglobulinemia">Smoldering Waldenstrom Macroglobulinemia</a></span></li></ul></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></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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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_120647"><div><strong>Prolidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120647</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.">C0268532</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Prolidase deficiency is characterized by skin lesions (typically severe, chronic, recalcitrant, and painful skin ulcers of the lower extremities and telangiectasias of the face and hands), recurrent infections (particularly of the skin and respiratory tract), dysmorphic facial features, variable intellectual disability, and organomegaly (typically splenomegaly but occasionally associated with hepatomegaly) with elevated liver enzymes. Skeletal anomalies, chronic pulmonary disease, anemia, thrombocytopenia, hypergammaglobulinemia, and hypocomplementemia are observed in a minority of affected individuals. An association between prolidase deficiency and autoimmune conditions – particularly systemic lupus erythematosus (SLE) – has been described.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120647">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_90743"><div><strong>Lipochrome histiocytosis - familial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90743</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.">C0334125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/90743">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_340052"><div><strong>Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340052</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:">C1853761</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between age three and 30 years after initial normal development, axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy, and elevated serum concentration of alpha-fetoprotein (AFP).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/340052">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_340877"><div><strong>Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340877</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.">C1855470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/340877">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_348506"><div><strong>Neutropenia, severe congenital, 1, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348506</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.">C1859966</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">ELANE-related neutropenia includes congenital neutropenia and cyclic neutropenia, both of which are primary hematologic disorders characterized by recurrent fever, skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, and pharyngitis), and cervical adenopathy. Infectious complications are generally more severe in congenital neutropenia than in cyclic neutropenia. In congenital neutropenia, omphalitis immediately after birth may be the first sign; in untreated children diarrhea, pneumonia, and deep abscesses in the liver, lungs, and subcutaneous tissues are common in the first year of life. After 15 years with granulocyte colony-stimulating factor treatment, the risk of developing myelodysplasia (MDS) or acute myelogenous leukemia (AML) is approximately 15%-25%. Cyclic neutropenia is usually diagnosed within the first year of life based on approximately three-week intervals of fever and oral ulcerations and regular oscillations of blood cell counts. Cellulitis, especially perianal cellulitis, is common during neutropenic periods. Between neutropenic periods, affected individuals are generally healthy. Symptoms improve in adulthood. Cyclic neutropenia is not associated with risk of malignancy or conversion to leukemia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/348506">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_354631"><div><strong>Calcific aortic disease with immunologic abnormalities, familial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354631</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.">C1861974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/354631">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_382434"><div><strong>Autoimmune lymphoproliferative syndrome type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382434</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.">C2674723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">RAS-associated leukoproliferative disorder (RALD) is characterized by lymphadenopathy, splenomegaly, and variable autoimmune phenomena, including autoimmune hemolytic anemia, idiopathic thrombocytopenic purpura, and neutropenia. Laboratory studies show an expansion of lymphocytes due to defective apoptosis, as well as significant autoantibodies. Some patients have recurrent infections, and there may be an increased risk of hematologic malignancy (summary by Oliveira, 2013 and Niemela et al., 2010). The disorder shows significant overlap with autoimmune lymphoproliferative syndrome (ALPS; 601859) and was originally designated ALPS IV.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/382434">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_394568"><div><strong>Sarcoidosis, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394568</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.">C2697310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/394568">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_777137"><div><strong>Chronic familial neutropenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777137</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.">C3665676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/777137">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_815361"><div><strong>Congenital neutropenia-myelofibrosis-nephromegaly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815361</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.">C3809031</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Severe congenital neutropenia-5 is an autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis (summary by Vilboux et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/815361">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_816258"><div><strong>Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816258</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.">C3809928</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/816258">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_854829"><div><strong>Aicardi-Goutieres syndrome 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854829</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.">C3888244</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/854829">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648310"><div><strong>Proteasome-associated autoinflammatory syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648310</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.">C4746851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Proteasome-associated autoinflammatory syndrome-1 (PRAAS1) is an autosomal recessive disorder characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome See also PRAAS2 (618048), caused by mutation in the POMP gene (613386) on chromosome 13q12; PRAAS3 (617591), caused by mutation in the PSMB4 gene (602177) on chromosome 1q21; PRAAS4 (619183), caused by mutation in the PSMG2 gene (609702) on chromosome 18p11; PRAAS5 (619175), caused by mutation in the PSMB10 gene (176847) on chromosome 16q22; and PRAAS6 (620796), caused by mutation in the PSMB9 gene (177045) on chromosome 6p21.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648310">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648456"><div><strong>Proteasome-associated autoinflammatory syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648456</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.">C4747850</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Proteasome-associated autoinflammatory syndrome-3 (PRAAS3) is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648456">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1794136"><div><strong>Interstitial lung disease 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794136</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.">C5561926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Interstitial lung disease (ILD) comprises a heterogeneous group of rare diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The manifestations form a spectrum ranging from idiopathic interstitial pneumonia (IIP) or pneumonitis to the more severe idiopathic pulmonary fibrosis (IPF). IPF is associated with an increased risk of developing lung cancer, which occurs in a subset of patients with ILD. Clinical features of ILD include dyspnea, clubbing of the fingers, and restrictive lung capacity. Imaging typically shows ground glass opacities and inter- and intraseptal thickening, while histologic studies usually show a pattern consistent with 'usual interstitial pneumonia' (UIP) (review by Gross and Hunninghake, 2001; summary by Legendre et al., 2020). Idiopathic pulmonary fibrosis is one of a family of idiopathic pneumonias sharing clinical features of shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees in inflammation, fibrosis, or both on lung biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. Although older studies included several forms of interstitial pneumonia under the term 'idiopathic pulmonary fibrosis,' the clinical label of 'idiopathic pulmonary fibrosis' should be reserved for patients with a specific form of fibrosing interstitial pneumonia referred to as usual interstitial pneumonia (Gross and Hunninghake, 2001). It is estimated that 0.5 to 2.2% of cases of idiopathic pulmonary fibrosis are familial (Marshall et al., 2000). Gross and Hunninghake (2001) reviewed idiopathic pulmonary fibrosis, emphasizing definition, pathogenesis, diagnosis, natural history, and therapy. Antoniou et al. (2004) provided a 'top ten list' of references pertaining to etiopathogenesis, prognosis, diagnosis, therapy, and other aspects of idiopathic pulmonary fibrosis. For a discussion of genetic heterogeneity of ILD, see ILD1 (619611). Pulmonary fibrosis can also be a feature in patients with mutations in the TERT (187270) or the TERC (602322) gene; see PFBMFT1 (614742) and PFBMFT2 (614743). Some patients with surfactant protein C deficiency (610913) who survive to adulthood manifest features of pulmonary fibrosis.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1794136">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1848300"><div><strong>Tan-Almurshedi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848300</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.">C5882727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Tan-Almurshedi syndrome (TANALS) is an autosomal recessive neurodevelopmental disorder characterized by intrauterine growth retardation, poor overall growth with short stature and microcephaly, hypotonia, global developmental delay with impaired intellectual development, poor or absent speech, spasticity, and dysmorphic facial features (Westrip et al., 2023).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1848300">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 7</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune lymphoproliferative syndrome type 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816258" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354631" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Calcific aortic disease with immunologic abnormalities, familial</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_777137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic familial neutropenia</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital neutropenia-myelofibrosis-nephromegaly syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794136" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interstitial lung disease 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90743" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipochrome histiocytosis - familial</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340877" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348506" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neutropenia, severe congenital, 1, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120647" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolidase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteasome-associated autoinflammatory syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteasome-associated autoinflammatory syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sarcoidosis, susceptibility to, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340052" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1848300" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tan-Almurshedi syndrome</a></div></span></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/26033086">Aerosol Delivery in the Treatment of Lung Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Storti C,
|
||
Le Noci V,
|
||
Sommariva M,
|
||
Tagliabue E,
|
||
Balsari A,
|
||
Sfondrini L</span><br />
|
||
<span class="medgenPMjournal">Curr Cancer Drug Targets</span>
|
||
2015;15(7):604-12.
|
||
doi: 10.2174/1568009615666150602143751.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26033086" target="_blank">26033086</a></div>
|
||
|
||
<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/11605148">Treatment strategy and perioperative risk in patients with idiopathic thrombocytopenic purpura undergoing cardiac surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christiansen S,
|
||
Redmann K,
|
||
Schmid C,
|
||
Scheld HH</span><br />
|
||
<span class="medgenPMjournal">Thorac Cardiovasc Surg</span>
|
||
2001 Oct;49(5):316-7.
|
||
doi: 10.1055/s-2001-17804.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11605148" target="_blank">11605148</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(increased%20circulating%20antibody%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 (43)</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/38536935">The gut microbiota posttranslationally modifies IgA1 in autoimmune glomerulonephritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gleeson PJ,
|
||
Benech N,
|
||
Chemouny J,
|
||
Metallinou E,
|
||
Berthelot L,
|
||
da Silva J,
|
||
Bex-Coudrat J,
|
||
Boedec E,
|
||
Canesi F,
|
||
Bounaix C,
|
||
Morelle W,
|
||
Moya-Nilges M,
|
||
Kenny J,
|
||
O'Mahony L,
|
||
Saveanu L,
|
||
Arnulf B,
|
||
Sannier A,
|
||
Daugas E,
|
||
Vrtovsnik F,
|
||
Lepage P,
|
||
Sokol H,
|
||
Monteiro RC</span><br />
|
||
<span class="medgenPMjournal">Sci Transl Med</span>
|
||
2024 Mar 27;16(740):eadl6149.
|
||
doi: 10.1126/scitranslmed.adl6149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38536935" target="_blank">38536935</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38228729">Immunomodulatory response to neoadjuvant nivolumab in non-metastatic clear cell renal cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singla N,
|
||
Nirschl TR,
|
||
Obradovic AZ,
|
||
Shenderov E,
|
||
Lombardo K,
|
||
Liu X,
|
||
Pons A,
|
||
Zarif JC,
|
||
Rowe SP,
|
||
Trock BJ,
|
||
Hammers HJ,
|
||
Bivalacqua TJ,
|
||
Pierorazio PM,
|
||
Deutsch JS,
|
||
Lotan TL,
|
||
Taube JM,
|
||
Ged YMA,
|
||
Gorin MA,
|
||
Allaf ME,
|
||
Drake CG</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Jan 17;14(1):1458.
|
||
doi: 10.1038/s41598-024-51889-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38228729" target="_blank">38228729</a><a href="/pmc/articles/PMC10792074" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37777061">Ofatumumab in Rituximab-Resistant and Rituximab-Intolerant Patients With Primary Membranous Nephropathy: A Case Series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Podestà MA,
|
||
Trillini M,
|
||
Portalupi V,
|
||
Gennarini A,
|
||
Tomatis F,
|
||
Villa A,
|
||
Perna A,
|
||
Rubis N,
|
||
Remuzzi G,
|
||
Ruggenenti P</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2024 Mar;83(3):340-349.e1.
|
||
Epub 2023 Sep 29
|
||
doi: 10.1053/j.ajkd.2023.08.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37777061" target="_blank">37777061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30586750">Lipoprotein(a), PCSK9 Inhibition, and Cardiovascular Risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Donoghue ML,
|
||
Fazio S,
|
||
Giugliano RP,
|
||
Stroes ESG,
|
||
Kanevsky E,
|
||
Gouni-Berthold I,
|
||
Im K,
|
||
Lira Pineda A,
|
||
Wasserman SM,
|
||
Češka R,
|
||
Ezhov MV,
|
||
Jukema JW,
|
||
Jensen HK,
|
||
Tokgözoğlu SL,
|
||
Mach F,
|
||
Huber K,
|
||
Sever PS,
|
||
Keech AC,
|
||
Pedersen TR,
|
||
Sabatine MS</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2019 Mar 19;139(12):1483-1492.
|
||
doi: 10.1161/CIRCULATIONAHA.118.037184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30586750" target="_blank">30586750</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22421340">The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium,
|
||
Swerdlow DI,
|
||
Holmes MV,
|
||
Kuchenbaecker KB,
|
||
Engmann JE,
|
||
Shah T,
|
||
Sofat R,
|
||
Guo Y,
|
||
Chung C,
|
||
Peasey A,
|
||
Pfister R,
|
||
Mooijaart SP,
|
||
Ireland HA,
|
||
Leusink M,
|
||
Langenberg C,
|
||
Li KW,
|
||
Palmen J,
|
||
Howard P,
|
||
Cooper JA,
|
||
Drenos F,
|
||
Hardy J,
|
||
Nalls MA,
|
||
Li YR,
|
||
Lowe G,
|
||
Stewart M,
|
||
Bielinski SJ,
|
||
Peto J,
|
||
Timpson NJ,
|
||
Gallacher J,
|
||
Dunlop M,
|
||
Houlston R,
|
||
Tomlinson I,
|
||
Tzoulaki I,
|
||
Luan J,
|
||
Boer JM,
|
||
Forouhi NG,
|
||
Onland-Moret NC,
|
||
van der Schouw YT,
|
||
Schnabel RB,
|
||
Hubacek JA,
|
||
Kubinova R,
|
||
Baceviciene M,
|
||
Tamosiunas A,
|
||
Pajak A,
|
||
Topor-Madry R,
|
||
Malyutina S,
|
||
Baldassarre D,
|
||
Sennblad B,
|
||
Tremoli E,
|
||
de Faire U,
|
||
Ferrucci L,
|
||
Bandenelli S,
|
||
Tanaka T,
|
||
Meschia JF,
|
||
Singleton A,
|
||
Navis G,
|
||
Mateo Leach I,
|
||
Bakker SJ,
|
||
Gansevoort RT,
|
||
Ford I,
|
||
Epstein SE,
|
||
Burnett MS,
|
||
Devaney JM,
|
||
Jukema JW,
|
||
Westendorp RG,
|
||
Jan de Borst G,
|
||
van der Graaf Y,
|
||
de Jong PA,
|
||
Mailand-van der Zee AH,
|
||
Klungel OH,
|
||
de Boer A,
|
||
Doevendans PA,
|
||
Stephens JW,
|
||
Eaton CB,
|
||
Robinson JG,
|
||
Manson JE,
|
||
Fowkes FG,
|
||
Frayling TM,
|
||
Price JF,
|
||
Whincup PH,
|
||
Morris RW,
|
||
Lawlor DA,
|
||
Smith GD,
|
||
Ben-Shlomo Y,
|
||
Redline S,
|
||
Lange LA,
|
||
Kumari M,
|
||
Wareham NJ,
|
||
Verschuren WM,
|
||
Benjamin EJ,
|
||
Whittaker JC,
|
||
Hamsten A,
|
||
Dudbridge F,
|
||
Delaney JA,
|
||
Wong A,
|
||
Kuh D,
|
||
Hardy R,
|
||
Castillo BA,
|
||
Connolly JJ,
|
||
van der Harst P,
|
||
Brunner EJ,
|
||
Marmot MG,
|
||
Wassel CL,
|
||
Humphries SE,
|
||
Talmud PJ,
|
||
Kivimaki M,
|
||
Asselbergs FW,
|
||
Voevoda M,
|
||
Bobak M,
|
||
Pikhart H,
|
||
Wilson JG,
|
||
Hakonarson H,
|
||
Reiner AP,
|
||
Keating BJ,
|
||
Sattar N,
|
||
Hingorani AD,
|
||
Casas JP</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2012 Mar 31;379(9822):1214-24.
|
||
Epub 2012 Mar 14
|
||
doi: 10.1016/S0140-6736(12)60110-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22421340" target="_blank">22421340</a><a href="/pmc/articles/PMC3316968" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20circulating%20antibody%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 (759)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34506743">Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2021 Nov 6;398(10312):1713-1725.
|
||
Epub 2021 Sep 7
|
||
doi: 10.1016/S0140-6736(21)01122-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34506743" target="_blank">34506743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33933473">Performance of a commercially available multiplex platform in the assessment of circulating cytokines and chemokines in patients with rheumatoid arthritis and osteoarthritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maloley PM,
|
||
England BR,
|
||
Sayles HR,
|
||
Thiele GM,
|
||
Duryee MJ,
|
||
Hunter CD,
|
||
Payne JB,
|
||
Mikuls TR</span><br />
|
||
<span class="medgenPMjournal">J Immunol Methods</span>
|
||
2021 Aug;495:113048.
|
||
Epub 2021 Apr 30
|
||
doi: 10.1016/j.jim.2021.113048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33933473" target="_blank">33933473</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15488607">Neopterin in HIV-1 infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wirleitner B,
|
||
Schroecksnadel K,
|
||
Winkler C,
|
||
Fuchs D</span><br />
|
||
<span class="medgenPMjournal">Mol Immunol</span>
|
||
2005 Feb;42(2):183-94.
|
||
doi: 10.1016/j.molimm.2004.06.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15488607" target="_blank">15488607</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8800509">Acquired inhibitors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen AJ,
|
||
Kessler CM</span><br />
|
||
<span class="medgenPMjournal">Baillieres Clin Haematol</span>
|
||
1996 Jun;9(2):331-54.
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Mach F,
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Huber K,
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<div class="portlet_content ln"><span class="medgenPMauthor">White NJ</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20circulating%20antibody%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 (756)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/35840146">The use of medium cutoff dialyzers in patients with multiple myeloma and acute kidney injury requiring hemodialysis: A systematic review.</a></div>
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Lim CC;
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S.I.N:G.A.P.O.R.E Initiative (Science In Nephrology: Growth And Progress Of Research & Education)</span><br />
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<span class="medgenPMjournal">Semin Dial</span>
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<span class="bold">PMID: </span><a href="/pubmed/35840146" target="_blank">35840146</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20586571">Colchicine poisoning: the dark side of an ancient drug.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Finkelstein Y,
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Aks SE,
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Hutson JR,
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Juurlink DN,
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Nguyen P,
|
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Dubnov-Raz G,
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Pollak U,
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Koren G,
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Bentur Y</span><br />
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<span class="medgenPMjournal">Clin Toxicol (Phila)</span>
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<span class="bold">PMID: </span><a href="/pubmed/20586571" target="_blank">20586571</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12460794">Immunologic effects of dioxin: new results from Seveso and comparison with other studies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Baccarelli A,
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|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20circulating%20antibody%20concentration%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
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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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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5397581%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C5397581%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (15)</a></li>
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