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<!--
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UID=866689
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ConceptID=C4021036
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal natural killer cell count</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866689</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.">C4021036</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormality of natural killer cell number</td></tr>
|
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<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:0040089">HP:0040089</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">Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes. [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_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 unavailable round" title="Clinical test">C</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">Abnormal natural killer cell count</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/1702861" ref="tree=MeSH" title="MedGen record for Abnormal immune system morphology">Abnormal immune system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869190" ref="tree=MeSH" title="MedGen record for Abnormal cellular immune system morphology">Abnormal cellular immune system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/508852" ref="tree=MeSH" title="MedGen record for Abnormal leukocyte morphology">Abnormal leukocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/66370" ref="tree=MeSH" title="MedGen record for Abnormal lymphocyte morphology">Abnormal lymphocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866748" ref="tree=MeSH" title="MedGen record for Abnormal natural killer cell morphology">Abnormal natural killer cell morphology</a></span><ul><li><span class="matched_ds">Abnormal natural killer cell count</span><ul><li><span class="TLline"><a href="/medgen/1640812" ref="tree=MeSH" title="MedGen record for Abnormal natural killer subset distribution">Abnormal natural killer subset distribution</a></span><ul><li><span class="TLline"><a href="/medgen/1619973" ref="tree=MeSH" title="MedGen record for Abnormal distribution of CD56 bright/dim natural killer cells">Abnormal distribution of CD56 bright/dim natural killer cells</a></span></li><li><span class="TLline"><a href="/medgen/892985" ref="tree=MeSH" title="MedGen record for Absent natural killer cells">Absent natural killer cells</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1863904" ref="tree=MeSH" title="MedGen record for Elevated natural killer cell count">Elevated natural killer cell count</a></span></li><li><span class="TLline"><a href="/medgen/383765" ref="tree=MeSH" title="MedGen record for Reduced natural killer cell count">Reduced natural killer cell count</a></span></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">
|
||
<div class="divPopper rprt" id="rdis_220906"><div><strong>X-linked severe combined immunodeficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220906</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:">C1279481</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of X-linked severe combined immunodeficiency (X-SCID) ranges from typical X-SCID (early-onset disease in males that is fatal if not treated with hematopoietic stem cell transplantation [HSCT] or gene therapy) to atypical X-SCID (later-onset disease comprising phenotypes caused by variable immunodeficiency, immune dysregulation, and/or autoimmunity). Typical X-SCID. Prior to universal newborn screening (NBS) for SCID most males with typical X-SCID came to medical attention between ages three and six months because of recurrent infections, persistent infections, and infections with opportunistic organisms. With universal NBS for SCID, the common presentation for typical X-SCID is now an asymptomatic, healthy-appearing male infant. Atypical X-SCID, which usually is not detected by NBS, can manifest in the first years of life or later with one of the following: recurrent upper and lower respiratory tract infections with bronchiectasis; Omenn syndrome, a clinical phenotype caused by immune dysregulation; X-SCID combined immunodeficiency (often with recurrent infections, warts, and dermatitis); immune dysregulation and autoimmunity; or Epstein-Barr virus-related lymphoproliferative complications.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220906">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375137"><div><strong>Immunodeficiency 67</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375137</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.">C1843256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-67 (IMD67) is an autosomal recessive primary immunodeficiency characterized by recurrent severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae and Staphylococcus aureus; Pseudomonas and atypical Mycobacteria may also be observed. IMD67 is life-threatening in infancy and early childhood. The first invasive infection typically occurs before 2 years of age, with meningitis representing up to 41% of the bacterial infections. The mortality rate in early childhood is high, with most deaths occurring before 8 years of age. Affected individuals have an impaired inflammatory response to infection, including lack of fever and neutropenia, although erythrocyte sedimentation rate (ESR) and C-reactive protein may be elevated. General immunologic workup tends to be normal, with normal levels of B cells, T cells, and NK cells. However, more detailed studies indicate impaired cytokine response to lipopolysaccharide (LPS) and IL1B (147720) stimulation; response to TNFA (191160) is usually normal. Patients have good antibody responses to most vaccinations, with the notable exception of pneumococcal vaccination. Viral, fungal, and parasitic infections are not generally observed. Early detection is critical in early childhood because prophylactic treatment with IVIg or certain antibiotics is effective; the disorder tends to improve naturally around adolescence. At the molecular level, the disorder results from impaired function of selective Toll receptor (see TLR4, 603030)/IL1R (see IL1R1, 147810) signaling pathways that ultimately activate NFKB (164011) to produce cytokines (summary by Ku et al., 2007; Picard et al., 2010; Grazioli et al., 2016). See also IMD68 (612260), caused by mutation in the MYD88 gene (602170), which shows a similar phenotype to IMD67. As the MYD88 and IRAK4 genes interact in the same intracellular signaling pathway, the clinical and cellular features are almost indistinguishable (summary by Picard et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375137">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347128"><div><strong>Predisposition to invasive fungal disease due to CARD9 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347128</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.">C1859353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic primary immunodeficiency with characteristics of increased susceptibility to fungal infections that typically manifest as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis and deep dermatophytosis. Dermatophytes invade skin, hair, nails, lymph nodes and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis and lymphadenopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347128">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383023"><div><strong>Pyogenic bacterial infections due to MyD88 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383023</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.">C2677092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-68 (IMD68) is an autosomal recessive primary immunodeficiency characterized by severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas, although other organisms may be observed. IMD68 is life-threatening in infancy and early childhood. The first invasive infection typically occurs before 2 years of age, with meningitis and upper respiratory infections being common manifestations. The mortality rate in early childhood is high, with most deaths occurring before 8 years of age. Affected individuals have an impaired inflammatory response to infection, including lack of fever and neutropenia, although erythrocyte sedimentation rate (ESR) and C-reactive protein may be elevated. General immunologic workup tends to be normal, with normal levels of B cells, T cells, and NK cells. However, more detailed studies indicate impaired cytokine response to lipopolysaccharide (LPS) and IL1B (147720) stimulation; response to TNFA (191160) is usually normal. Patients have good antibody responses to most vaccinations. Viral, fungal, and parasitic infections are generally not observed. Early detection is critical in early childhood because prophylactic treatment with IVIg or certain antibiotics is effective; the disorder tends to improve naturally around adolescence. At the molecular level, IMD68 results from impaired function of selective Toll receptor (see TLR4, 603030)/IL1R (see IL1R1; 147810) signaling pathways that ultimately activate NFKB (164011) to produce cytokines (summary by Picard et al., 2010). See also IMD67 (607676), caused by mutation in the IRAK4 gene (602170), which shows a similar phenotype to IMD68. As the MYD88 and IRAK4 genes interact in the same intracellular signaling pathway, the clinical and cellular features are almost indistinguishable (summary by Picard et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383023">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_440578"><div><strong>Combined immunodeficiency due to ORAI1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440578</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.">C2748568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-9 (IMD9) is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel (summary by McCarl et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/440578">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1384124"><div><strong>Severe combined immunodeficiency due to LAT deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1384124</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.">C4479588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1384124">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841236"><div><strong>Autoimmune disease, multisystem, infantile-onset, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841236</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.">C5830600</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile-onset multisystem autoimmune disease-3 (ADMIO3) is an autosomal recessive disorder of immune dysregulation characterized by the onset of various systemic autoimmune manifestations in the first months or years of life. Features may include hypothyroidism, type 1 diabetes mellitus, systemic inflammatory manifestations (fever, hepatomegaly), and autoimmune cytopenias. Laboratory studies show normal levels of T, B, and NK cells, but CD4+ (see 186940) T cells demonstrate hyperproliferation when stimulated in vitro (Janssen et al., 2022). For a discussion of genetic heterogeneity of ADMIO, see ADMIO1 (615952).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841236">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841236" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune disease, multisystem, infantile-onset, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency due to ORAI1 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 67</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Predisposition to invasive fungal disease due to CARD9 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383023" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyogenic bacterial infections due to MyD88 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1384124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe combined immunodeficiency due to LAT deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_220906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked severe combined immunodeficiency</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/39127298">Multiplex droplet digital PCR for 22q11.2 microdeletions screening and DiGeorge syndrome diagnostics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oscorbin IP,
|
||
Gordukova MA,
|
||
Davydova NV,
|
||
Zinovieva NV,
|
||
Kovzel EF,
|
||
Andries L,
|
||
Kudlay DA,
|
||
Filipenko ML</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2024 Sep 15;563:119903.
|
||
Epub 2024 Aug 8
|
||
doi: 10.1016/j.cca.2024.119903.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39127298" target="_blank">39127298</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34162148">The abnormal distribution of NK cell subsets before HAART treatment may be related to the level of immune reconstitution in HIV patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun S,
|
||
Kong W,
|
||
Cui X,
|
||
Lin Y,
|
||
Lu B,
|
||
Pan Y,
|
||
Huang J,
|
||
Hu X</span><br />
|
||
<span class="medgenPMjournal">Int Immunopharmacol</span>
|
||
2021 Jul;96:107784.
|
||
Epub 2021 May 24
|
||
doi: 10.1016/j.intimp.2021.107784.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34162148" target="_blank">34162148</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33823601">Circulating NK and NKT cells in the diagnosis and treatment of immunological causes of female infertility - retrospective data analysis from the tertiary clinical center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malíčková K,
|
||
Luxová Š,
|
||
Krátká Z,
|
||
Sedláčková L</span><br />
|
||
<span class="medgenPMjournal">Cas Lek Cesk</span>
|
||
2021 Winter;160(1):27-32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33823601" target="_blank">33823601</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20natural%20killer%20cell%20count)%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 (12)</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/38427515">Clinical characteristics of hemophagocytic lymphohistiocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu C,
|
||
Shi J,
|
||
Tan Y,
|
||
Hu H</span><br />
|
||
<span class="medgenPMjournal">Technol Health Care</span>
|
||
2024;32(4):2509-2526.
|
||
doi: 10.3233/THC-231275.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38427515" target="_blank">38427515</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36865565">The central role of natural killer cells in preeclampsia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei X,
|
||
Yang X</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1009867.
|
||
Epub 2023 Feb 14
|
||
doi: 10.3389/fimmu.2023.1009867.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36865565" target="_blank">36865565</a><a href="/pmc/articles/PMC9972679" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32309433">The Roles of Uterine Natural Killer (NK) Cells and KIR/HLA-C Combination in the Development of Preeclampsia: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang X,
|
||
Yang Y,
|
||
Yuan Y,
|
||
Liu L,
|
||
Meng T</span><br />
|
||
<span class="medgenPMjournal">Biomed Res Int</span>
|
||
2020;2020:4808072.
|
||
Epub 2020 Mar 28
|
||
doi: 10.1155/2020/4808072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32309433" target="_blank">32309433</a><a href="/pmc/articles/PMC7149372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24798970">CD16+CD56+ cells are a potential culprit for hematuria in IgA nephropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iwatani H,
|
||
Nagasawa Y,
|
||
Yamamoto R,
|
||
Iio K,
|
||
Mizui M,
|
||
Horii A,
|
||
Kitahara T,
|
||
Inohara H,
|
||
Kumanogoh A,
|
||
Imai E,
|
||
Rakugi H,
|
||
Isaka Y</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Nephrol</span>
|
||
2015 Apr;19(2):216-24.
|
||
Epub 2014 May 6
|
||
doi: 10.1007/s10157-014-0968-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24798970" target="_blank">24798970</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17285884">Transient myeloproliferative disorder associated with trisomy 21.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kruger B</span><br />
|
||
<span class="medgenPMjournal">Neonatal Netw</span>
|
||
2007 Jan-Feb;26(1):7-19.
|
||
doi: 10.1891/0730-0832.26.1.7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17285884" target="_blank">17285884</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20natural%20killer%20cell%20count%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 (178)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38464517">Key candidate genes and pathways in T lymphoblastic leukemia/lymphoma identified by bioinformatics and serological analyses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ren Y,
|
||
Liang H,
|
||
Huang Y,
|
||
Miao Y,
|
||
Li R,
|
||
Qiang J,
|
||
Wu L,
|
||
Qi J,
|
||
Li Y,
|
||
Xia Y,
|
||
Huang L,
|
||
Wang S,
|
||
Kong X,
|
||
Zhou Y,
|
||
Zhang Q,
|
||
Zhu G</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2024;15:1341255.
|
||
Epub 2024 Feb 23
|
||
doi: 10.3389/fimmu.2024.1341255.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38464517" target="_blank">38464517</a><a href="/pmc/articles/PMC10920334" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38427515">Clinical characteristics of hemophagocytic lymphohistiocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu C,
|
||
Shi J,
|
||
Tan Y,
|
||
Hu H</span><br />
|
||
<span class="medgenPMjournal">Technol Health Care</span>
|
||
2024;32(4):2509-2526.
|
||
doi: 10.3233/THC-231275.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38427515" target="_blank">38427515</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33426092">Is there a Role of Intravenous Immunoglobulin in Immunologic Recurrent Pregnancy Loss?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang X,
|
||
Meng T</span><br />
|
||
<span class="medgenPMjournal">J Immunol Res</span>
|
||
2020;2020:6672865.
|
||
Epub 2020 Dec 27
|
||
doi: 10.1155/2020/6672865.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33426092" target="_blank">33426092</a><a href="/pmc/articles/PMC7781684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24032527">Natural killer T cell defects in multiple myeloma and the impact of lenalidomide therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan AC,
|
||
Neeson P,
|
||
Leeansyah E,
|
||
Tainton K,
|
||
Quach H,
|
||
Prince HM,
|
||
Harrison SJ,
|
||
Godfrey DI,
|
||
Ritchie D,
|
||
Berzins SP</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Immunol</span>
|
||
2014 Jan;175(1):49-58.
|
||
doi: 10.1111/cei.12196.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24032527" target="_blank">24032527</a><a href="/pmc/articles/PMC3898554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17285884">Transient myeloproliferative disorder associated with trisomy 21.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kruger B</span><br />
|
||
<span class="medgenPMjournal">Neonatal Netw</span>
|
||
2007 Jan-Feb;26(1):7-19.
|
||
doi: 10.1891/0730-0832.26.1.7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17285884" target="_blank">17285884</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20natural%20killer%20cell%20count%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 (101)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33426092">Is there a Role of Intravenous Immunoglobulin in Immunologic Recurrent Pregnancy Loss?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yang X,
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<div class="nl"><a target="_blank" href="/pubmed/32911375">Ibrutinib restores immune cell numbers and function in first-line and relapsed/refractory chronic lymphocytic leukemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Solman IG,
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Blum LK,
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Hoh HY,
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Kipps TJ,
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Burger JA,
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Barrientos JC,
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O'Brien S,
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Mulligan SP,
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Kay NE,
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Hillmen P,
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<div class="nl"><a target="_blank" href="/pubmed/32889304">Immunotherapy to improve pregnancy outcome in women with abnormal natural killer cell levels/activity and recurrent miscarriage or implantation failure: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Woon EV,
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Day A,
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Bracewell-Milnes T,
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<div class="nl"><a target="_blank" href="/pubmed/24798970">CD16+CD56+ cells are a potential culprit for hematuria in IgA nephropathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Iwatani H,
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Nagasawa Y,
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Yamamoto R,
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Mizui M,
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<div class="portlet_content ln"><span class="medgenPMauthor">Chan AC,
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Neeson P,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20natural%20killer%20cell%20count%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 (97)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38464517">Key candidate genes and pathways in T lymphoblastic leukemia/lymphoma identified by bioinformatics and serological analyses.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ren Y,
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Liang H,
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Miao Y,
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Li R,
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Wang S,
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Kong X,
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Zhou Y,
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Zhang Q,
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<span class="bold">PMID: </span><a href="/pubmed/38464517" target="_blank">38464517</a><a href="/pmc/articles/PMC10920334" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38427515">Clinical characteristics of hemophagocytic lymphohistiocytosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lu C,
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<div class="nl"><a target="_blank" href="/pubmed/32911375">Ibrutinib restores immune cell numbers and function in first-line and relapsed/refractory chronic lymphocytic leukemia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Solman IG,
|
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Blum LK,
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Hoh HY,
|
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Kipps TJ,
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Burger JA,
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Barrientos JC,
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O'Brien S,
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Mulligan SP,
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Kay NE,
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Hillmen P,
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Byrd JC,
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Lal ID,
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Dean JP,
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Mongan A</span><br />
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2020 Oct;97:106432.
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<span class="bold">PMID: </span><a href="/pubmed/32911375" target="_blank">32911375</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21570064">Low numbers and altered phenotype of invariant natural killer T cells in recurrent varicella zoster virus infection.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Novakova L,
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Lehuen A,
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<span class="bold">PMID: </span><a href="/pubmed/21570064" target="_blank">21570064</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/10670009">Immune reconstitution in the HAART era, Part 1: Immune abnormalities in HIV/AIDS.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20natural%20killer%20cell%20count%22%20AND%20Prognosis%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 (82)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38464517">Key candidate genes and pathways in T lymphoblastic leukemia/lymphoma identified by bioinformatics and serological analyses.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ren Y,
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Liang H,
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Huang Y,
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Miao Y,
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Li R,
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Qiang J,
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Wu L,
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Qi J,
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Li Y,
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Xia Y,
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Huang L,
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Wang S,
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Kong X,
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Zhou Y,
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Zhang Q,
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Zhu G</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
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2024;15:1341255.
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Epub 2024 Feb 23
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doi: 10.3389/fimmu.2024.1341255.
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<span class="bold">PMID: </span><a href="/pubmed/38464517" target="_blank">38464517</a><a href="/pmc/articles/PMC10920334" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/38427515">Clinical characteristics of hemophagocytic lymphohistiocytosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Lu C,
|
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Shi J,
|
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Tan Y,
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Hu H</span><br />
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<span class="medgenPMjournal">Technol Health Care</span>
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2024;32(4):2509-2526.
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doi: 10.3233/THC-231275.
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<span class="bold">PMID: </span><a href="/pubmed/38427515" target="_blank">38427515</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21570064">Low numbers and altered phenotype of invariant natural killer T cells in recurrent varicella zoster virus infection.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Novakova L,
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Lehuen A,
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Novak J</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/21570064" target="_blank">21570064</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/3489981">Impaired alpha-interferon production and natural killer activity in blood mononuclear cells in myelodysplastic syndromes.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/6185256">Interferon and natural killer cells in systemic lupus erythematosus.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Strannegård O,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20natural%20killer%20cell%20count%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 (137)</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/35040086">Identification of Parameters Representative of Immune Dysfunction in Patients with Severe and Fatal COVID-19 Infection: a Systematic Review and Meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Qin R,
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He L,
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Yang Z,
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Jia N,
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Chen R,
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Xie J,
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Fu W,
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Chen H,
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Lin X,
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Huang R,
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Luo T,
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Liu Y,
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Yao S,
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Jiang M,
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Li J</span><br />
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Epub 2022 Jan 18
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<span class="bold">PMID: </span><a href="/pubmed/35040086" target="_blank">35040086</a><a href="/pmc/articles/PMC8763427" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32889304">Immunotherapy to improve pregnancy outcome in women with abnormal natural killer cell levels/activity and recurrent miscarriage or implantation failure: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woon EV,
|
||
Day A,
|
||
Bracewell-Milnes T,
|
||
Male V,
|
||
Johnson M</span><br />
|
||
<span class="medgenPMjournal">J Reprod Immunol</span>
|
||
2020 Nov;142:103189.
|
||
Epub 2020 Aug 22
|
||
doi: 10.1016/j.jri.2020.103189.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32889304" target="_blank">32889304</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32309433">The Roles of Uterine Natural Killer (NK) Cells and KIR/HLA-C Combination in the Development of Preeclampsia: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yang X,
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Yang Y,
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Yuan Y,
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Liu L,
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Meng T</span><br />
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<span class="medgenPMjournal">Biomed Res Int</span>
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2020;2020:4808072.
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Epub 2020 Mar 28
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doi: 10.1155/2020/4808072.
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<span class="bold">PMID: </span><a href="/pubmed/32309433" target="_blank">32309433</a><a href="/pmc/articles/PMC7149372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22065867">Penicilliosis in children without HIV infection--are they immunodeficient?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lee PP,
|
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Chan KW,
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Lee TL,
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Ho MH,
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Chen XY,
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Li CH,
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Chu KM,
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Zeng HS,
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Lau YL</span><br />
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<span class="medgenPMjournal">Clin Infect Dis</span>
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2012 Jan 15;54(2):e8-e19.
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Epub 2011 Nov 7
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<span class="bold">PMID: </span><a href="/pubmed/22065867" target="_blank">22065867</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21700241">Consequences of HIV infection on malaria and therapeutic implications: a systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Flateau C,
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Le Loup G,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20natural%20killer%20cell%20count%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 (5)</a></div></div>
|
||
</div>
|
||
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormal%20natural%20killer%20cell%20count" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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