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<meta name="keywords" content="C0549463, disease, duncan, disease, x-linked lymphoproliferative, diseases, x-linked lymphoproliferative, disorder, x-linked lymphoproliferative, disorders, x-linked lymphoproliferative, duncan disease, duncan's syndrome, epstein barr virus induced lymphoproliferative disease in males, epstein barr virus infection, familial fatal, epstein-barr virus infection, familial fatal, epstein-barr virus-induced lymphoproliferative disease in males, familial fatal epstein barr infection, familial fatal epstein-barr infection, immunodeficiency 5, immunodeficiency 5s, immunodeficiency, x linked progressive combined variable, immunodeficiency, x-linked progressive combined variable, lymphoproliferative disease, x linked, lymphoproliferative disease, x-linked, lymphoproliferative diseases, x-linked, lymphoproliferative disorder, x-linked, lymphoproliferative disorders, x-linked, lymphoproliferative syndrome x-linked 1, lymphoproliferative syndrome, x-linked, lymphoproliferative syndrome, x-linked, 1, lymphoproliferative syndromes, x-linked, neoplastic process, purtilo syndrome, purtilo syndromes, severe susceptibility to epstein-barr infection, sh2d1a-related lymphoproliferative disease, x-linked, syndrome, purtilo, syndrome, x-linked lymphoproliferative, syndromes, purtilo, syndromes, x-linked lymphoproliferative, x linked lymphoproliferative disease, x linked lymphoproliferative disorder, x linked lymphoproliferative syndrome, x-linked lymphoproliferative disease, x-linked lymphoproliferative diseases, x-linked lymphoproliferative disorder, x-linked lymphoproliferative disorders, x-linked lymphoproliferative syndrome, x-linked lymphoproliferative syndrome 1, x-linked lymphoproliferative syndromes, xlp, xlps - x-linked lymphoproliferative syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="X-linked lymphoproliferative disease (XLP) in general is characterized by an inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis, dysgammaglobulinemia, and lymphoproliferative disease (malignant lymphoma). The condition primarily affects males. XLP has two recognizable subtypes, XLP1 (due to pathogenic variants in SH2D1A) and XLP2 (due to pathogenic variants in XIAP). HLH / fulminant infectious mononucleosis is the most common presentation regardless of subtype. HLH is characterized as an acute illness with prolonged and high fever, bi- or trilineage cytopenias, and hepatosplenomegaly, which is often severe or fatal. Death is generally secondary to liver failure or multisystem organ dysfunction. In those with XLP1, dys- or hypogammaglobulinemia can lead to varying degrees of humoral immune dysfunction associated with bronchiectasis and recurrent respiratory infections that, if untreated, may result in death. Lymphoproliferative disease (malignant lymphoma) and other lymphoproliferative diseases are specific to XLP1 and often develop in childhood, usually following EBV exposure. Rarer findings in those with XLP1 can include aplastic anemia, vasculitis, and lymphoid granulomatosis. Males with XLP2 are more likely to have HLH without EBV infection, recurrent episodes of HLH (which is not typically seen in those with XLP1), splenomegaly, and gastrointestinal disease, including enterocolitis and perirectal abscesses or fistulae. Rarely, individuals with XLP2 and inflammatory bowel disease have been reported to develop inflammatory liver disease, which can progress to fatal liver failure. Transient hypogammaglobulinemia has been rarely observed in those with XLP2. To date, neither lymphoproliferative disease nor common variable immunodeficiency has been reported in males with XLP2. Heterozygous females rarely have symptoms. There are, however, increasing numbers of reports of affected females with unfavorable (skewed) X-chromosome inactivation favoring the X chromosome with the pathogenic variant who develop HLH, inflammatory bowel disease, and erythema nodosum." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=107498
|
||
ConceptID=C0549463
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">X-linked lymphoproliferative syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107498</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.">C0549463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Lymphoproliferative Disease, X-Linked</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>XLPS - X-linked lymphoproliferative syndrome (77121009); Duncan's syndrome (77121009); X-linked lymphoproliferative syndrome (77121009); Purtilo syndrome (77121009); Familial fatal Epstein-Barr infection (77121009); Severe susceptibility to Epstein-Barr infection (77121009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/4068">SH2D1A</a>, <a target="_blank" href="/gene/331">XIAP</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010627" target="_blank">MONDO:0010627</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2442">ORPHA2442</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1406" target="_blank">X-Linked Lymphoproliferative Disease</a></div><div>X-linked lymphoproliferative disease (XLP) in general is characterized by an inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis, dysgammaglobulinemia, and lymphoproliferative disease (malignant lymphoma). The condition primarily affects males. XLP has two recognizable subtypes, XLP1 (due to pathogenic variants in SH2D1A) and XLP2 (due to pathogenic variants in XIAP). HLH / fulminant infectious mononucleosis is the most common presentation regardless of subtype. HLH is characterized as an acute illness with prolonged and high fever, bi- or trilineage cytopenias, and hepatosplenomegaly, which is often severe or fatal. Death is generally secondary to liver failure or multisystem organ dysfunction. In those with XLP1, dys- or hypogammaglobulinemia can lead to varying degrees of humoral immune dysfunction associated with bronchiectasis and recurrent respiratory infections that, if untreated, may result in death. Lymphoproliferative disease (malignant lymphoma) and other lymphoproliferative diseases are specific to XLP1 and often develop in childhood, usually following EBV exposure. Rarer findings in those with XLP1 can include aplastic anemia, vasculitis, and lymphoid granulomatosis. Males with XLP2 are more likely to have HLH without EBV infection, recurrent episodes of HLH (which is not typically seen in those with XLP1), splenomegaly, and gastrointestinal disease, including enterocolitis and perirectal abscesses or fistulae. Rarely, individuals with XLP2 and inflammatory bowel disease have been reported to develop inflammatory liver disease, which can progress to fatal liver failure. Transient hypogammaglobulinemia has been rarely observed in those with XLP2. To date, neither lymphoproliferative disease nor common variable immunodeficiency has been reported in males with XLP2. Heterozygous females rarely have symptoms. There are, however, increasing numbers of reports of affected females with unfavorable (skewed) X-chromosome inactivation favoring the X chromosome with the pathogenic variant who develop HLH, inflammatory bowel disease, and erythema nodosum. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1406#x-lpd.Summary" target="NBK1406">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1406#x-lpd.Diagnosis" target="NBK1406">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1406#x-lpd.Clinical_Characteristics" target="NBK1406">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1406#x-lpd.Genetically_Related_Allelic_Disord" target="NBK1406">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1406#x-lpd.Differential_Diagnosis" target="NBK1406">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1406#x-lpd.Management" target="NBK1406">Management</a> | <a class="medgenPMinfo" href="/books/NBK1406#x-lpd.Genetic_Counseling" target="NBK1406">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1406#x-lpd.Resources" target="NBK1406">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1406#x-lpd.Molecular_Genetics" target="NBK1406">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1406#x-lpd.Chapter_Notes" target="NBK1406">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1406#x-lpd.References" target="NBK1406">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Lauren Meyer | Melissa Hines | Kejian Zhang<i>, et. al.</i> <a href="/books/NBK1406" target="NBK1406" title="NCBI Bookshelf: X-Linked Lymphoproliferative Disease">view full author information</a></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males. More than half of individuals with this disorder experience an exaggerated immune response to the Epstein-Barr virus (EBV). EBV is a very common virus that eventually infects most humans. In some people it causes infectious mononucleosis (commonly known as "mono"). Normally, after initial infection, EBV remains in certain immune system cells (lymphocytes) called B cells. However, the virus is generally inactive (latent) because it is controlled by other lymphocytes called T cells that specifically target EBV-infected B cells.<br /><br />People with XLP may respond to EBV infection by producing abnormally large numbers of T cells, B cells, and other lymphocytes called macrophages. This proliferation of immune cells often causes a life-threatening reaction called hemophagocytic lymphohistiocytosis. Hemophagocytic lymphohistiocytosis causes fever, destroys blood-producing cells in the bone marrow, and damages the liver. The spleen, heart, kidneys, and other organs and tissues may also be affected. In some individuals with XLP, hemophagocytic lymphohistiocytosis or related symptoms may occur without EBV infection.<br /><br />About one-third of people with XLP experience dysgammaglobulinemia, which means they have abnormal levels of some types of antibodies. Antibodies (also known as immunoglobulins) are proteins that attach to specific foreign particles and germs, marking them for destruction. Individuals with dysgammaglobulinemia are prone to recurrent infections.<br /><br />Cancers of immune system cells (lymphomas) occur in about one-third of people with XLP.<br /><br />Without treatment, most people with XLP survive only into childhood. Death usually results from hemophagocytic lymphohistiocytosis.<br /><br />XLP can be divided into two types based on its genetic cause and pattern of signs and symptoms: XLP1 (also known as classic XLP) and XLP2. People with XLP2 have not been known to develop lymphoma, are more likely to develop hemophagocytic lymphohistiocytosis without EBV infection, usually have an enlarged spleen (splenomegaly), and may also have inflammation of the large intestine (colitis). Some researchers believe that these individuals should actually be considered to have a similar but separate disorder rather than a type of XLP. <a target="_blank" href="https://medlineplus.gov/genetics/condition/x-linked-lymphoproliferative-disease">https://medlineplus.gov/genetics/condition/x-linked-lymphoproliferative-disease</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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><li><a href="#tabORDO">Orphanet</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=C0549463[DISCUI]&test_type=Clinical" ref="ncbi_uid=107498">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1406/" ref="ncbi_uid=107498">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=107498" ref="ncbi_uid=107498">V</a></span></span><span class="TLline">X-linked lymphoproliferative syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5399825[DISCUI]&test_type=Clinical" ref="ncbi_uid=1770239">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1770239" target="_blank" href="/omim/300490">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1406/" ref="ncbi_uid=1770239">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1770239" ref="ncbi_uid=1770239">V</a></span></span><span class="TLline"><a href="/medgen/1770239" ref="tree=GTR&ncbi_uid=1770239&link_uid=1770239" title="View MedGen record for 'X-linked lymphoproliferative disease due to SH2D1A deficiency'">X-linked lymphoproliferative disease due to SH2D1A deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1845076[DISCUI]&test_type=Clinical" ref="ncbi_uid=336848">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336848" target="_blank" href="/omim/300079">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1406/" ref="ncbi_uid=336848">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=336848" ref="ncbi_uid=336848">V</a></span></span><span class="TLline"><a href="/medgen/336848" ref="tree=GTR&ncbi_uid=336848&link_uid=336848" title="View MedGen record for 'X-linked lymphoproliferative disease due to XIAP deficiency'">X-linked lymphoproliferative disease due to XIAP deficiency</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867388" ref="tree=MeSH" title="MedGen record for Abnormality of the immune system">Abnormality of the immune system</a></span><ul><li><span class="TLline"><a href="/medgen/869194" ref="tree=MeSH" title="MedGen record for Abnormality of immune system physiology">Abnormality of immune system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/7034" ref="tree=MeSH" title="MedGen record for Immunodeficiency">Immunodeficiency</a></span><ul><li><span class="matched_ds">X-linked lymphoproliferative syndrome</span><ul><li><span class="TLline"><a href="/medgen/1770239" ref="tree=MeSH" title="MedGen record for X-linked lymphoproliferative disease due to SH2D1A deficiency">X-linked lymphoproliferative disease due to SH2D1A deficiency</a></span></li><li><span class="TLline"><a href="/medgen/336848" ref="tree=MeSH" title="MedGen record for X-linked lymphoproliferative disease due to XIAP deficiency">X-linked lymphoproliferative disease due to XIAP deficiency</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=275&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">X-linked lymphoproliferative syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_105">
|
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<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/8433872">Prenatal diagnosis and genetic analysis of X-linked immunodeficiency disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Puck JM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
1993 Jan;33(1 Suppl):S29-33; discussion S33-4.
|
||
doi: 10.1203/00006450-199305001-00158.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8433872" target="_blank">8433872</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22x-linked%20lymphoproliferative%20syndrome%22%5Btiab%3A~0%5D)%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 (1)</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/35958573">Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyazawa H,
|
||
Wada T</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:930141.
|
||
Epub 2022 Jul 25
|
||
doi: 10.3389/fimmu.2022.930141.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35958573" target="_blank">35958573</a><a href="/pmc/articles/PMC9358977" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28684198">Flow cytometry-based diagnosis of primary immunodeficiency diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanegane H,
|
||
Hoshino A,
|
||
Okano T,
|
||
Yasumi T,
|
||
Wada T,
|
||
Takada H,
|
||
Okada S,
|
||
Yamashita M,
|
||
Yeh TW,
|
||
Nishikomori R,
|
||
Takagi M,
|
||
Imai K,
|
||
Ochs HD,
|
||
Morio T</span><br />
|
||
<span class="medgenPMjournal">Allergol Int</span>
|
||
2018 Jan;67(1):43-54.
|
||
Epub 2017 Jul 3
|
||
doi: 10.1016/j.alit.2017.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28684198" target="_blank">28684198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23721759">Extra-intestinal malignancies in inflammatory bowel disease: results of the 3rd ECCO Pathogenesis Scientific Workshop (III).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magro F,
|
||
Peyrin-Biroulet L,
|
||
Sokol H,
|
||
Aldeger X,
|
||
Costa A,
|
||
Higgins PD,
|
||
Joyce JC,
|
||
Katsanos KH,
|
||
Lopez A,
|
||
de Xaxars TM,
|
||
Toader E,
|
||
Beaugerie L</span><br />
|
||
<span class="medgenPMjournal">J Crohns Colitis</span>
|
||
2014 Jan;8(1):31-44.
|
||
Epub 2013 May 27
|
||
doi: 10.1016/j.crohns.2013.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23721759" target="_blank">23721759</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2990590">Epstein-Barr virus-induced diseases in the X-linked lymphoproliferative syndrome and related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Purtilo DT</span><br />
|
||
<span class="medgenPMjournal">Biomed Pharmacother</span>
|
||
1985;39(2):52-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2990590" target="_blank">2990590</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6271875">Abnormal lymphocyte subsets of X-linked lymphoproliferative syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seeley J,
|
||
Sakamoto K,
|
||
Ip SH,
|
||
Hansen PW,
|
||
Purtilo DT</span><br />
|
||
<span class="medgenPMjournal">J Immunol</span>
|
||
1981 Dec;127(6):2618-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6271875" target="_blank">6271875</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20lymphoproliferative%20syndrome%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 (28)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38642164">Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suzuki T,
|
||
Sato Y,
|
||
Okuno Y,
|
||
Torii Y,
|
||
Fukuda Y,
|
||
Haruta K,
|
||
Yamaguchi M,
|
||
Kawamura Y,
|
||
Hama A,
|
||
Narita A,
|
||
Muramatsu H,
|
||
Yoshikawa T,
|
||
Takahashi Y,
|
||
Kimura H,
|
||
Ito Y,
|
||
Kawada JI</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2024 Apr 20;44(4):103.
|
||
doi: 10.1007/s10875-024-01701-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38642164" target="_blank">38642164</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36634696">Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kammermeier J,
|
||
Lamb CA,
|
||
Jones KDJ,
|
||
Anderson CA,
|
||
Baple EL,
|
||
Bolton C,
|
||
Braggins H,
|
||
Coulter TI,
|
||
Gilmour KC,
|
||
Gregory V,
|
||
Hambleton S,
|
||
Hartley D,
|
||
Hawthorne AB,
|
||
Hearn S,
|
||
Laurence A,
|
||
Parkes M,
|
||
Russell RK,
|
||
Speight RA,
|
||
Travis S,
|
||
Wilson DC,
|
||
Uhlig HH</span><br />
|
||
<span class="medgenPMjournal">Lancet Gastroenterol Hepatol</span>
|
||
2023 Mar;8(3):271-286.
|
||
Epub 2023 Jan 9
|
||
doi: 10.1016/S2468-1253(22)00337-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36634696" target="_blank">36634696</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35020838">Diagnosis of HLH: two siblings, two distinct genetic causes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Escaron C,
|
||
Ralph E,
|
||
Bibi S,
|
||
Visser J,
|
||
Aricò M,
|
||
Rao K,
|
||
Veys P,
|
||
Gilmour K</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Immunol</span>
|
||
2022 Apr 4;207(2):205-207.
|
||
doi: 10.1093/cei/uxab019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35020838" target="_blank">35020838</a><a href="/pmc/articles/PMC8982960" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28684198">Flow cytometry-based diagnosis of primary immunodeficiency diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanegane H,
|
||
Hoshino A,
|
||
Okano T,
|
||
Yasumi T,
|
||
Wada T,
|
||
Takada H,
|
||
Okada S,
|
||
Yamashita M,
|
||
Yeh TW,
|
||
Nishikomori R,
|
||
Takagi M,
|
||
Imai K,
|
||
Ochs HD,
|
||
Morio T</span><br />
|
||
<span class="medgenPMjournal">Allergol Int</span>
|
||
2018 Jan;67(1):43-54.
|
||
Epub 2017 Jul 3
|
||
doi: 10.1016/j.alit.2017.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28684198" target="_blank">28684198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11122230">X-linked lymphoproliferative syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nelson DL,
|
||
Terhorst C</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Immunol</span>
|
||
2000 Dec;122(3):291-5.
|
||
doi: 10.1046/j.1365-2249.2000.01400.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11122230" target="_blank">11122230</a><a href="/pmc/articles/PMC1905809" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20lymphoproliferative%20syndrome%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 (72)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32627096">Haploidentical Hematopoietic Stem Cell Transplantation for XIAP Deficiency: a Single-Center Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang J,
|
||
Zhu GH,
|
||
Wang B,
|
||
Zhang R,
|
||
Jia CG,
|
||
Yan Y,
|
||
Ma HH,
|
||
Qin MQ</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2020 Aug;40(6):893-900.
|
||
Epub 2020 Jul 5
|
||
doi: 10.1007/s10875-020-00795-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32627096" target="_blank">32627096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23721759">Extra-intestinal malignancies in inflammatory bowel disease: results of the 3rd ECCO Pathogenesis Scientific Workshop (III).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magro F,
|
||
Peyrin-Biroulet L,
|
||
Sokol H,
|
||
Aldeger X,
|
||
Costa A,
|
||
Higgins PD,
|
||
Joyce JC,
|
||
Katsanos KH,
|
||
Lopez A,
|
||
de Xaxars TM,
|
||
Toader E,
|
||
Beaugerie L</span><br />
|
||
<span class="medgenPMjournal">J Crohns Colitis</span>
|
||
2014 Jan;8(1):31-44.
|
||
Epub 2013 May 27
|
||
doi: 10.1016/j.crohns.2013.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23721759" target="_blank">23721759</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8054918">Successful bone marrow transplantation in a boy with X-linked lymphoproliferative syndrome and acute severe infectious mononucleosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pracher E,
|
||
Panzer-Grümayer ER,
|
||
Zoubek A,
|
||
Peters C,
|
||
Gadner H</span><br />
|
||
<span class="medgenPMjournal">Bone Marrow Transplant</span>
|
||
1994 May;13(5):655-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8054918" target="_blank">8054918</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2841854">Management of Epstein-Barr virus infections.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andersson J,
|
||
Ernberg I</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
1988 Aug 29;85(2A):107-15.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2841854" target="_blank">2841854</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3526660">Allogeneic bone marrow transplantation for X-linked lymphoproliferative syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filipovich AH,
|
||
Blazar BR,
|
||
Ramsay NK,
|
||
Kersey JH,
|
||
Zelkowitz L,
|
||
Harada S,
|
||
Purtilo DT</span><br />
|
||
<span class="medgenPMjournal">Transplantation</span>
|
||
1986 Aug;42(2):222-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3526660" target="_blank">3526660</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20lymphoproliferative%20syndrome%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 (24)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35367395">Preemptive hematopoietic cell transplantation for asymptomatic patients with X-linked lymphoproliferative syndrome type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tomomasa D,
|
||
Booth C,
|
||
Bleesing JJ,
|
||
Isoda T,
|
||
Kobayashi C,
|
||
Koike K,
|
||
Taketani T,
|
||
Sawada A,
|
||
Tamura A,
|
||
Marsh RA,
|
||
Morio T,
|
||
Gennery AR,
|
||
Kanegane H</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2022 Apr;237:108993.
|
||
Epub 2022 Mar 30
|
||
doi: 10.1016/j.clim.2022.108993.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35367395" target="_blank">35367395</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34246792">Hematopoietic Cell Transplantation Rescues Inflammatory Bowel Disease and Dysbiosis of Gut Microbiota in XIAP Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ono S,
|
||
Takeshita K,
|
||
Kiridoshi Y,
|
||
Kato M,
|
||
Kamiya T,
|
||
Hoshino A,
|
||
Yanagimachi M,
|
||
Arai K,
|
||
Takeuchi I,
|
||
Toita N,
|
||
Imamura T,
|
||
Sasahara Y,
|
||
Sugita J,
|
||
Hamamoto K,
|
||
Takeuchi M,
|
||
Saito S,
|
||
Onuma M,
|
||
Tsujimoto H,
|
||
Yasui M,
|
||
Taga T,
|
||
Arakawa Y,
|
||
Mitani Y,
|
||
Yamamoto N,
|
||
Imai K,
|
||
Suda W,
|
||
Hattori M,
|
||
Ohara O,
|
||
Morio T,
|
||
Honda K,
|
||
Kanegane H</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2021 Oct;9(10):3767-3780.
|
||
Epub 2021 Jul 8
|
||
doi: 10.1016/j.jaip.2021.05.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34246792" target="_blank">34246792</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31754776">X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu T,
|
||
Zhao Q,
|
||
Li W,
|
||
Chen X,
|
||
Xue X,
|
||
Chen Z,
|
||
Du X,
|
||
Bai X,
|
||
Zhao Q,
|
||
Zhou L,
|
||
Tang X,
|
||
Yang X,
|
||
Kanegane H,
|
||
Zhao X</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2020 Feb;179(2):327-338.
|
||
Epub 2019 Nov 21
|
||
doi: 10.1007/s00431-019-03512-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31754776" target="_blank">31754776</a><a href="/pmc/articles/PMC6970958" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30138256">Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neves JF,
|
||
Raga LT,
|
||
Chiang SCC,
|
||
Tesi B,
|
||
Vieira JP,
|
||
Cordeiro AI,
|
||
Borrego L,
|
||
Bryceson YT</span><br />
|
||
<span class="medgenPMjournal">Pediatr Infect Dis J</span>
|
||
2019 Feb;38(2):e29-e31.
|
||
doi: 10.1097/INF.0000000000002154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30138256" target="_blank">30138256</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25737324">X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aguilar C,
|
||
Latour S</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2015 May;35(4):331-8.
|
||
Epub 2015 Mar 4
|
||
doi: 10.1007/s10875-015-0141-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25737324" target="_blank">25737324</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20lymphoproliferative%20syndrome%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 (33)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38642164">Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suzuki T,
|
||
Sato Y,
|
||
Okuno Y,
|
||
Torii Y,
|
||
Fukuda Y,
|
||
Haruta K,
|
||
Yamaguchi M,
|
||
Kawamura Y,
|
||
Hama A,
|
||
Narita A,
|
||
Muramatsu H,
|
||
Yoshikawa T,
|
||
Takahashi Y,
|
||
Kimura H,
|
||
Ito Y,
|
||
Kawada JI</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2024 Apr 20;44(4):103.
|
||
doi: 10.1007/s10875-024-01701-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38642164" target="_blank">38642164</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34246792">Hematopoietic Cell Transplantation Rescues Inflammatory Bowel Disease and Dysbiosis of Gut Microbiota in XIAP Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ono S,
|
||
Takeshita K,
|
||
Kiridoshi Y,
|
||
Kato M,
|
||
Kamiya T,
|
||
Hoshino A,
|
||
Yanagimachi M,
|
||
Arai K,
|
||
Takeuchi I,
|
||
Toita N,
|
||
Imamura T,
|
||
Sasahara Y,
|
||
Sugita J,
|
||
Hamamoto K,
|
||
Takeuchi M,
|
||
Saito S,
|
||
Onuma M,
|
||
Tsujimoto H,
|
||
Yasui M,
|
||
Taga T,
|
||
Arakawa Y,
|
||
Mitani Y,
|
||
Yamamoto N,
|
||
Imai K,
|
||
Suda W,
|
||
Hattori M,
|
||
Ohara O,
|
||
Morio T,
|
||
Honda K,
|
||
Kanegane H</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2021 Oct;9(10):3767-3780.
|
||
Epub 2021 Jul 8
|
||
doi: 10.1016/j.jaip.2021.05.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34246792" target="_blank">34246792</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31754776">X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu T,
|
||
Zhao Q,
|
||
Li W,
|
||
Chen X,
|
||
Xue X,
|
||
Chen Z,
|
||
Du X,
|
||
Bai X,
|
||
Zhao Q,
|
||
Zhou L,
|
||
Tang X,
|
||
Yang X,
|
||
Kanegane H,
|
||
Zhao X</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2020 Feb;179(2):327-338.
|
||
Epub 2019 Nov 21
|
||
doi: 10.1007/s00431-019-03512-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31754776" target="_blank">31754776</a><a href="/pmc/articles/PMC6970958" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11282995">Decreased expression of signaling lymphocytic-activation molecule-associated protein (SAP) transcripts in T cells from patients with rheumatoid arthritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takei M,
|
||
Ishiwata T,
|
||
Mitamura K,
|
||
Fujiwara S,
|
||
Sasaki K,
|
||
Nishi T,
|
||
Kuga T,
|
||
Ookubo T,
|
||
Horie T,
|
||
Ryu J,
|
||
Ohi H,
|
||
Sawada S</span><br />
|
||
<span class="medgenPMjournal">Int Immunol</span>
|
||
2001 Apr;13(4):559-65.
|
||
doi: 10.1093/intimm/13.4.559.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11282995" target="_blank">11282995</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2841854">Management of Epstein-Barr virus infections.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andersson J,
|
||
Ernberg I</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
1988 Aug 29;85(2A):107-15.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2841854" target="_blank">2841854</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20lymphoproliferative%20syndrome%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 (44)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
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|
||
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|
||
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|
||
|
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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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<div class="portlet mgSection" id="ID_113">
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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_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" 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=C0549463%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0549463%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0549463%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2442" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=X-linked%20lymphoproliferative%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22x-linked%20lymphoproliferative%20syndrome%22%5Btiab%3A~0%5D)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22X-linked%20lymphoproliferative%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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