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<meta name="keywords" content="C5543622, cxcr2, disease or syndrome, warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 2, whim syndrome 2, whims2, 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="WHIM syndrome-2 (WHIMS2) is an autosomal recessive immunologic disorder characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow. Affected individuals have recurrent infections, usually bacterial (summary by Auer et al., 2014). In a review of WHIMS, Heusinkveld et al. (2019) noted that there is significant phenotypic variation among patients, such that some individuals may have an 'incomplete' form of the disorder in which 1 or more of the classic tetrad features are not present. In general, the WHIMS phenotype comprises a spectrum of manifestations with variable expressivity. For a discussion of genetic heterogeneity of WHIMS, see 193670." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1785594
|
||
ConceptID=C5543622
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">WHIM syndrome 2<span class="h1sub">(WHIMS2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785594</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:">C5543622</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 2</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="CXCR2 - ID: 3579 - NCBI Gene" href="/gene/3579" class="medgenPMinfo">CXCR2</a> (2q35)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030374" target="_blank">MONDO:0030374</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619407" target="_blank">619407</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_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">WHIM syndrome-2 (WHIMS2) is an autosomal recessive immunologic disorder characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow. Affected individuals have recurrent infections, usually bacterial (summary by Auer et al., 2014). In a review of WHIMS, Heusinkveld et al. (2019) noted that there is significant phenotypic variation among patients, such that some individuals may have an 'incomplete' form of the disorder in which 1 or more of the classic tetrad features are not present. In general, the WHIMS phenotype comprises a spectrum of manifestations with variable expressivity. For a discussion of genetic heterogeneity of WHIMS, see 193670. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_21498"><div><strong>Tetralogy of Fallot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21498</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.">C0039685</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21498">Feature record</a> | <a href="/medgen?term=%22Tetralogy%20of%20Fallot%22%5BClinical%20Features%5D%20OR%2021498%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_543867"><div><strong>Myelokathexis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>543867</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.">C0272173</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired egress of mature neutrophils from bone marrow causing neutropenia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/543867">Feature record</a> | <a href="/medgen?term=%22Myelokathexis%22%5BClinical%20Features%5D%20OR%20543867%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1671095"><div><strong>Chronic neutropenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1671095</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.">C0746882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1671095">Feature record</a> | <a href="/medgen?term=%22Chronic%20neutropenia%22%5BClinical%20Features%5D%20OR%201671095%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1700844"><div><strong>Severe infection</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1700844</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.">C5139167</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1700844">Feature record</a> | <a href="/medgen?term=%22Severe%20infection%22%5BClinical%20Features%5D%20OR%201700844%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1814411"><div><strong>Recurrent gingivitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1814411</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.">C5676847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1814411">Feature record</a> | <a href="/medgen?term=%22Recurrent%20gingivitis%22%5BClinical%20Features%5D%20OR%201814411%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_543867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myelokathexis</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tetralogy of Fallot</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1671095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic neutropenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1814411" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent gingivitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1700844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe infection</a></span></li></ul></li></ul></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/36210583">Can we identify WHIM in infancy? Opportunities with the public newborn screening process.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yilmaz M,
|
||
Potts DE,
|
||
Geier C,
|
||
Walter JE</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2022 Jun;190(2):215-221.
|
||
Epub 2022 Oct 9
|
||
doi: 10.1002/ajmg.c.32002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36210583" target="_blank">36210583</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27612320">Modern management of phagocyte defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lanini LL,
|
||
Prader S,
|
||
Siler U,
|
||
Reichenbach J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Allergy Immunol</span>
|
||
2017 Mar;28(2):124-134.
|
||
Epub 2016 Oct 13
|
||
doi: 10.1111/pai.12654.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27612320" target="_blank">27612320</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(whim%20syndrome%202)%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 (2)</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/36189225">Reactogenicity and immunogenicity of the second COVID-19 vaccination in patients with inborn errors of immunity or mannan-binding lectin deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Göschl L,
|
||
Mrak D,
|
||
Grabmeier-Pfistershammer K,
|
||
Stiasny K,
|
||
Haslacher H,
|
||
Schneider L,
|
||
Deimel T,
|
||
Kartnig F,
|
||
Tobudic S,
|
||
Aletaha D,
|
||
Burgmann H,
|
||
Bonelli M,
|
||
Pickl WF,
|
||
Förster-Waldl E,
|
||
Scheinecker C,
|
||
Vossen MG</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:974987.
|
||
Epub 2022 Sep 14
|
||
doi: 10.3389/fimmu.2022.974987.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36189225" target="_blank">36189225</a><a href="/pmc/articles/PMC9515892" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32870250">Results of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dale DC,
|
||
Firkin F,
|
||
Bolyard AA,
|
||
Kelley M,
|
||
Makaryan V,
|
||
Gorelick KJ,
|
||
Ebrahim T,
|
||
Garg V,
|
||
Tang W,
|
||
Jiang H,
|
||
Skerlj R,
|
||
Beaussant Cohen S</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2020 Dec 24;136(26):2994-3003.
|
||
doi: 10.1182/blood.2020007197.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32870250" target="_blank">32870250</a><a href="/pmc/articles/PMC7770568" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30716504">Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dotta L,
|
||
Notarangelo LD,
|
||
Moratto D,
|
||
Kumar R,
|
||
Porta F,
|
||
Soresina A,
|
||
Lougaris V,
|
||
Plebani A,
|
||
Smith CIE,
|
||
Norlin AC,
|
||
Gòmez Raccio AC,
|
||
Bubanska E,
|
||
Bertolini P,
|
||
Amendola G,
|
||
Visentini M,
|
||
Fiorilli M,
|
||
Venuti A,
|
||
Badolato R</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2019 May-Jun;7(5):1568-1577.
|
||
Epub 2019 Feb 2
|
||
doi: 10.1016/j.jaip.2019.01.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30716504" target="_blank">30716504</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28280994">Detection of MYD88 L265P and WHIM-like CXCR4 mutation in patients with IgM monoclonal gammopathy related disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cao XX,
|
||
Meng Q,
|
||
Cai H,
|
||
He TH,
|
||
Zhang CL,
|
||
Su W,
|
||
Sun J,
|
||
Li Y,
|
||
Xu W,
|
||
Zhou DB,
|
||
Li J</span><br />
|
||
<span class="medgenPMjournal">Ann Hematol</span>
|
||
2017 Jun;96(6):971-976.
|
||
Epub 2017 Mar 9
|
||
doi: 10.1007/s00277-017-2968-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28280994" target="_blank">28280994</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8433870">New and old immunodeficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stiehm ER</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
1993 Jan;33(1 Suppl):S2-7; discussion S7-8.
|
||
doi: 10.1203/00006450-199305001-00007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8433870" target="_blank">8433870</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22WHIM%20syndrome%202%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 (7)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39028950">Unexpected diagnosis of WHIM syndrome in refractory autoimmune cytopenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia-Carmona Y,
|
||
Chavez J,
|
||
Gernez Y,
|
||
Geyer JT,
|
||
Bussel JB,
|
||
Cunningham-Rundles C</span><br />
|
||
<span class="medgenPMjournal">Blood Adv</span>
|
||
2024 Oct 8;8(19):5126-5136.
|
||
doi: 10.1182/bloodadvances.2024013301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39028950" target="_blank">39028950</a><a href="/pmc/articles/PMC11460441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36210583">Can we identify WHIM in infancy? Opportunities with the public newborn screening process.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yilmaz M,
|
||
Potts DE,
|
||
Geier C,
|
||
Walter JE</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2022 Jun;190(2):215-221.
|
||
Epub 2022 Oct 9
|
||
doi: 10.1002/ajmg.c.32002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36210583" target="_blank">36210583</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35947323">Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geier CB,
|
||
Ellison M,
|
||
Cruz R,
|
||
Pawar S,
|
||
Leiss-Piller A,
|
||
Zmajkovicova K,
|
||
McNulty SM,
|
||
Yilmaz M,
|
||
Evans MO 2nd,
|
||
Gordon S,
|
||
Ujhazi B,
|
||
Wiest I,
|
||
Abolhassani H,
|
||
Aghamohammadi A,
|
||
Barmettler S,
|
||
Bhar S,
|
||
Bondarenko A,
|
||
Bolyard AA,
|
||
Buchbinder D,
|
||
Cada M,
|
||
Cavieres M,
|
||
Connelly JA,
|
||
Dale DC,
|
||
Deordieva E,
|
||
Dorsey MJ,
|
||
Drysdale SB,
|
||
Ehl S,
|
||
Elfeky R,
|
||
Fioredda F,
|
||
Firkin F,
|
||
Förster-Waldl E,
|
||
Geng B,
|
||
Goda V,
|
||
Gonzalez-Granado L,
|
||
Grunebaum E,
|
||
Grzesk E,
|
||
Henrickson SE,
|
||
Hilfanova A,
|
||
Hiwatari M,
|
||
Imai C,
|
||
Ip W,
|
||
Jyonouchi S,
|
||
Kanegane H,
|
||
Kawahara Y,
|
||
Khojah AM,
|
||
Kim VH,
|
||
Kojić M,
|
||
Kołtan S,
|
||
Krivan G,
|
||
Langguth D,
|
||
Lau YL,
|
||
Leung D,
|
||
Miano M,
|
||
Mersyanova I,
|
||
Mousallem T,
|
||
Muskat M,
|
||
Naoum FA,
|
||
Noronha SA,
|
||
Ouederni M,
|
||
Ozono S,
|
||
Richmond GW,
|
||
Sakovich I,
|
||
Salzer U,
|
||
Schuetz C,
|
||
Seeborg FO,
|
||
Sharapova SO,
|
||
Sockel K,
|
||
Volokha A,
|
||
von Bonin M,
|
||
Warnatz K,
|
||
Wegehaupt O,
|
||
Weinberg GA,
|
||
Wong KJ,
|
||
Worth A,
|
||
Yu H,
|
||
Zharankova Y,
|
||
Zhao X,
|
||
Devlin L,
|
||
Badarau A,
|
||
Csomos K,
|
||
Keszei M,
|
||
Pereira J,
|
||
Taveras AG,
|
||
Beaussant-Cohen SL,
|
||
Ong MS,
|
||
Shcherbina A,
|
||
Walter JE</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2022 Nov;42(8):1748-1765.
|
||
Epub 2022 Aug 10
|
||
doi: 10.1007/s10875-022-01312-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35947323" target="_blank">35947323</a><a href="/pmc/articles/PMC9700649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33598939">Unusual morphological abnormality of neutrophils in a patient with SARS-CoV-2 infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma P,
|
||
Naseem S,
|
||
Varma N,
|
||
Malhotra P</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2021 May;193(4):690.
|
||
Epub 2021 Feb 17
|
||
doi: 10.1111/bjh.17355.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33598939" target="_blank">33598939</a><a href="/pmc/articles/PMC8013899" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24316408">Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dotta L,
|
||
Badolato R</span><br />
|
||
<span class="medgenPMjournal">Immunol Lett</span>
|
||
2014 Oct;161(2):222-5.
|
||
Epub 2013 Dec 4
|
||
doi: 10.1016/j.imlet.2013.11.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24316408" target="_blank">24316408</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22WHIM%20syndrome%202%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 (13)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38643510">A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badolato R,
|
||
Alsina L,
|
||
Azar A,
|
||
Bertrand Y,
|
||
Bolyard AA,
|
||
Dale D,
|
||
Deyà-Martínez À,
|
||
Dickerson KE,
|
||
Ezra N,
|
||
Hasle H,
|
||
Kang HJ,
|
||
Kiani-Alikhan S,
|
||
Kuijpers TW,
|
||
Kulagin A,
|
||
Langguth D,
|
||
Levin C,
|
||
Neth O,
|
||
Olbrich P,
|
||
Peake J,
|
||
Rodina Y,
|
||
Rutten CE,
|
||
Shcherbina A,
|
||
Tarrant TK,
|
||
Vossen MG,
|
||
Wysocki CA,
|
||
Belschner A,
|
||
Bridger GJ,
|
||
Chen K,
|
||
Dubuc S,
|
||
Hu Y,
|
||
Jiang H,
|
||
Li S,
|
||
MacLeod R,
|
||
Stewart M,
|
||
Taveras AG,
|
||
Yan T,
|
||
Donadieu J</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2024 Jul 4;144(1):35-45.
|
||
doi: 10.1182/blood.2023022658.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38643510" target="_blank">38643510</a><a href="/pmc/articles/PMC11251404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35385630">Plerixafor on a WHIM - Promise or Fantasy of a New CXCR4 Inhibitor for This Rare, but Important Syndrome?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merati N,
|
||
Sivachandran S,
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<div class="nl"><a target="_blank" href="/pubmed/32870250">Results of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome.</a></div>
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Firkin F,
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Bolyard AA,
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<div class="nl"><a target="_blank" href="/pubmed/30716504">Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dotta L,
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Notarangelo LD,
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Moratto D,
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<div class="nl"><a target="_blank" href="/pubmed/8433870">New and old immunodeficiencies.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22WHIM%20syndrome%202%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 (15)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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<div class=" bottom">
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|
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|
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</div>
|
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</div>
|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<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 mgSection" id="ID_106">
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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=C5543622%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C5543622%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C5543622%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5543622%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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</ul></div>
|
||
</div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=619407" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=WHIM%20syndrome%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></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=(whim%20syndrome%202)%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></ul></div>
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<a href="/pubmed/clinical?term=WHIM%20syndrome%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=WHIM%20syndrome%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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Clear
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cd47d984f3725e593d1d5c">WHIM syndrome 2</a>
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<div class="ralinkpop offscreen_noflow">WHIM syndrome 2<div class="brieflinkpopdesc"></div></div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cd47d7a68b6b5afc770edf">C5543622[conceptid] <span class="number">(1)</span></a>
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cd47d6f4a390645e48e35b">C5542296[trait identifier] AND "OMIM"[submitter] <span class="number">(5)</span></a>
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<div class="tertiary">ClinVar</div>
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<li class="ra_rcd ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cd47d5f4a390645e48da40">Von Willebrand disease type 2B</a>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cd47d5a68b6b5afc7705d5">C1282971[trait identifier] AND "OMIM"[submitter] <span class="number">(7)</span></a>
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<div class="tertiary">ClinVar</div>
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