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<meta name="keywords" content="C0472817, disease or syndrome, warts, hypogammaglobulinemia, infections, and myelokathexis, warts, hypogammaglobulinemia, infections, and myelokathexis syndrome, whim - warts, hypogammaglobulinemia, infections and myelokathexis, whim syndrome, whims, 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="An autosomal dominant immunodeficiency syndrome caused by mutation(s) in the CXCR4 gene, encoding C-X-C chemokine receptor type 4. It is characterized by neutropenia, hypogammaglobulinemia, extensive human papillomavirus (HPV) infection, and myelokathexis." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Warts, hypogammaglobulinemia, infections, and myelokathexis (Concept Id: C0472817)
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<!--
UID=96875
ConceptID=C0472817
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Warts, hypogammaglobulinemia, infections, and myelokathexis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96875</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0472817</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>WHIM syndrome</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>WHIM - Warts, hypogammaglobulinemia, infections and myelokathexis (234571003); Warts, hypogammaglobulinemia, infections, and myelokathexis (234571003)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0023880" target="_blank">MONDO:0023880</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/193670" target="_blank">193670</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
<td><a href="https://omim.org/phenotypicSeries/PS193670" target="_blank">PS193670</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>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">An autosomal dominant immunodeficiency syndrome caused by mutation(s) in the CXCR4 gene, encoding C-X-C chemokine receptor type 4. It is characterized by neutropenia, hypogammaglobulinemia, extensive human papillomavirus (HPV) infection, and myelokathexis. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><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=C0472817[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=96875">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=96875" target="_blank" href="/omim/193670">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=96875" ref="ncbi_uid=96875">V</a></span></span><span class="TLline">Warts, hypogammaglobulinemia, infections, and myelokathexis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/11688" ref="tree=MeSH" title="MedGen record for Syndromic disease">Syndromic disease</a></span><ul><li><span class="matched_ds">Warts, hypogammaglobulinemia, infections, and myelokathexis</span></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&amp;data_id=156&amp;PatId=10676&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Warts, hypogammaglobulinemia, infections, and myelokathexis</span> in Orphanet.</div></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/30565238">WHIM syndrome: Immunopathogenesis, treatment and cure strategies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McDermott DH,
Murphy PM</span><br />
<span class="medgenPMjournal">Immunol Rev</span>
2019 Jan;287(1):91-102.
doi: 10.1111/imr.12719.
<span class="bold">PMID: </span><a href="/pubmed/30565238" target="_blank">30565238</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24912431">The WHIM-like CXCR4(S338X) somatic mutation activates AKT and ERK, and promotes resistance to ibrutinib and other agents used in the treatment of Waldenstrom's Macroglobulinemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cao Y,
Hunter ZR,
Liu X,
Xu L,
Yang G,
Chen J,
Patterson CJ,
Tsakmaklis N,
Kanan S,
Rodig S,
Castillo JJ,
Treon SP</span><br />
<span class="medgenPMjournal">Leukemia</span>
2015 Jan;29(1):169-76.
Epub 2014 Jun 10
doi: 10.1038/leu.2014.187.
<span class="bold">PMID: </span><a href="/pubmed/24912431" target="_blank">24912431</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22warts%2C%20hypogammaglobulinemia%2C%20infections%2C%20and%20myelokathexis%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 (3)</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/34807749">Mesenchymal Stem/Stromal Cells Overexpressing CXCR4(R334X) Revealed Enhanced Migration: A Lesson Learned from the Pathogenesis of WHIM Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bidkhori HR,
Bahrami AR,
Farshchian M,
Heirani-Tabasi A,
Mirahmadi M,
Hasanzadeh H,
Ahmadiankia N,
Faridhosseini R,
Dastpak M,
Shabgah AG,
Matin MM</span><br />
<span class="medgenPMjournal">Cell Transplant</span>
2021 Jan-Dec;30:9636897211054498.
doi: 10.1177/09636897211054498.
<span class="bold">PMID: </span><a href="/pubmed/34807749" target="_blank">34807749</a><a href="/pmc/articles/PMC8647223" 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/29066537">How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Badolato R,
Donadieu J;
WHIM Research Group</span><br />
<span class="medgenPMjournal">Blood</span>
2017 Dec 7;130(23):2491-2498.
Epub 2017 Oct 24
doi: 10.1182/blood-2017-02-708552.
<span class="bold">PMID: </span><a href="/pubmed/29066537" target="_blank">29066537</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24553177">Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Treon SP,
Cao Y,
Xu L,
Yang G,
Liu X,
Hunter ZR</span><br />
<span class="medgenPMjournal">Blood</span>
2014 May 1;123(18):2791-6.
Epub 2014 Feb 19
doi: 10.1182/blood-2014-01-550905.
<span class="bold">PMID: </span><a href="/pubmed/24553177" target="_blank">24553177</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22748845">Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Badolato R,
Dotta L,
Tassone L,
Amendola G,
Porta F,
Locatelli F,
Notarangelo LD,
Bertrand Y,
Bachelerie F,
Donadieu J</span><br />
<span class="medgenPMjournal">J Pediatr</span>
2012 Oct;161(4):763-5.
Epub 2012 Jun 27
doi: 10.1016/j.jpeds.2012.05.058.
<span class="bold">PMID: </span><a href="/pubmed/22748845" target="_blank">22748845</a><a href="/pmc/articles/PMC3458406" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Warts%2C%20hypogammaglobulinemia%2C%20infections%2C%20and%20myelokathexis%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/35470097">A Sherlock Approach to a Kindred With a Variable Immunohematologic Phenotype.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Walkovich K,
Grunebaum E</span><br />
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
2022 Jul;10(7):1714-1722.
Epub 2022 Apr 22
doi: 10.1016/j.jaip.2022.04.004.
<span class="bold">PMID: </span><a href="/pubmed/35470097" target="_blank">35470097</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31313072">WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Heusinkveld LE,
Majumdar S,
Gao JL,
McDermott DH,
Murphy PM</span><br />
<span class="medgenPMjournal">J Clin Immunol</span>
2019 Aug;39(6):532-556.
Epub 2019 Jul 16
doi: 10.1007/s10875-019-00665-w.
<span class="bold">PMID: </span><a href="/pubmed/31313072" target="_blank">31313072</a><a href="/pmc/articles/PMC6698215" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30577453">Adaptive Immunodeficiency in WHIM Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Majumdar S,
Murphy PM</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2018 Dec 20;20(1)
doi: 10.3390/ijms20010003.
<span class="bold">PMID: </span><a href="/pubmed/30577453" target="_blank">30577453</a><a href="/pmc/articles/PMC6337672" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29066537">How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Badolato R,
Donadieu J;
WHIM Research Group</span><br />
<span class="medgenPMjournal">Blood</span>
2017 Dec 7;130(23):2491-2498.
Epub 2017 Oct 24
doi: 10.1182/blood-2017-02-708552.
<span class="bold">PMID: </span><a href="/pubmed/29066537" target="_blank">29066537</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21506920">Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dotta L,
Tassone L,
Badolato R</span><br />
<span class="medgenPMjournal">Curr Mol Med</span>
2011 Jun;11(4):317-25.
doi: 10.2174/156652411795677963.
<span class="bold">PMID: </span><a href="/pubmed/21506920" target="_blank">21506920</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Warts%2C%20hypogammaglobulinemia%2C%20infections%2C%20and%20myelokathexis%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 (19)</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/38536576">Bruton Tyrosine Kinase Inhibition: an Effective Strategy to Manage Waldenström Macroglobulinemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tawfiq RK,
Abeykoon JP,
Kapoor P</span><br />
<span class="medgenPMjournal">Curr Hematol Malig Rep</span>
2024 Jun;19(3):120-137.
Epub 2024 Mar 27
doi: 10.1007/s11899-024-00731-0.
<span class="bold">PMID: </span><a href="/pubmed/38536576" target="_blank">38536576</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28768817">CXCR4-Specific Nanobodies as Potential Therapeutics for WHIM syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">de Wit RH,
Heukers R,
Brink HJ,
Arsova A,
Maussang D,
Cutolo P,
Strubbe B,
Vischer HF,
Bachelerie F,
Smit MJ</span><br />
<span class="medgenPMjournal">J Pharmacol Exp Ther</span>
2017 Oct;363(1):35-44.
Epub 2017 Aug 2
doi: 10.1124/jpet.117.242735.
<span class="bold">PMID: </span><a href="/pubmed/28768817" target="_blank">28768817</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26199389">Molecular Pathways: Targeting the CXCR4-CXCL12 Axis--Untapped Potential in the Tumor Microenvironment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Scala S</span><br />
<span class="medgenPMjournal">Clin Cancer Res</span>
2015 Oct 1;21(19):4278-85.
Epub 2015 Jul 21
doi: 10.1158/1078-0432.CCR-14-0914.
<span class="bold">PMID: </span><a href="/pubmed/26199389" target="_blank">26199389</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24275689">Inhibitors of CXC chemokine receptor type 4: putative therapeutic approaches in inflammatory diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hummel S,
Van Aken H,
Zarbock A</span><br />
<span class="medgenPMjournal">Curr Opin Hematol</span>
2014 Jan;21(1):29-36.
doi: 10.1097/MOH.0000000000000002.
<span class="bold">PMID: </span><a href="/pubmed/24275689" target="_blank">24275689</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Warts%2C%20hypogammaglobulinemia%2C%20infections%2C%20and%20myelokathexis%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 (20)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34697698">Multicenter Experience of Hematopoietic Stem Cell Transplantation in WHIM Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Laberko A,
Deordieva E,
Krivan G,
Goda V,
Bhar S,
Kawahara Y,
Rao K,
Worth A,
McDermott DH,
Balashov D,
Maschan A,
Shcherbina A</span><br />
<span class="medgenPMjournal">J Clin Immunol</span>
2022 Jan;42(1):171-182.
Epub 2021 Oct 26
doi: 10.1007/s10875-021-01155-8.
<span class="bold">PMID: </span><a href="/pubmed/34697698" target="_blank">34697698</a><a href="/pmc/articles/PMC8821066" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30625055">Plerixafor for the Treatment of WHIM Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McDermott DH,
Pastrana DV,
Calvo KR,
Pittaluga S,
Velez D,
Cho E,
Liu Q,
Trout HH 3rd,
Neves JF,
Gardner PJ,
Bianchi DA,
Blair EA,
Landon EM,
Silva SL,
Buck CB,
Murphy PM</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2019 Jan 10;380(2):163-170.
doi: 10.1056/NEJMoa1808575.
<span class="bold">PMID: </span><a href="/pubmed/30625055" target="_blank">30625055</a><a href="/pmc/articles/PMC6425947" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24711662">C1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of drug resistance in lymphoplasmacytic lymphoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Roccaro AM,
Sacco A,
Jimenez C,
Maiso P,
Moschetta M,
Mishima Y,
Aljawai Y,
Sahin I,
Kuhne M,
Cardarelli P,
Cohen L,
San Miguel JF,
Garcia-Sanz R,
Ghobrial IM</span><br />
<span class="medgenPMjournal">Blood</span>
2014 Jun 26;123(26):4120-31.
Epub 2014 Apr 7
doi: 10.1182/blood-2014-03-564583.
<span class="bold">PMID: </span><a href="/pubmed/24711662" target="_blank">24711662</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12224006">Epstein-Barr virus-associated T-lymphoproliferative disease with hemophagocytic syndrome, followed by fatal intestinal B lymphoma in a young adult female with WHIM syndrome. Warts, hypogammaglobulinemia, infections, and myelokathexis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Imashuku S,
Miyagawa A,
Chiyonobu T,
Ishida H,
Yoshihara T,
Teramura T,
Kuriyama K,
Imamura T,
Hibi S,
Morimoto A,
Todo S</span><br />
<span class="medgenPMjournal">Ann Hematol</span>
2002 Aug;81(8):470-3.
Epub 2002 Jul 20
doi: 10.1007/s00277-002-0489-9.
<span class="bold">PMID: </span><a href="/pubmed/12224006" target="_blank">12224006</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Warts%2C%20hypogammaglobulinemia%2C%20infections%2C%20and%20myelokathexis%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</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/37074509">Vedolizumab for children with intestinal graft-versus-host disease: a case report and literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fukuta T,
Muramatsu H,
Yamashita D,
Sajiki D,
Maemura R,
Tsumura Y,
Yamamori A,
Imaya M,
Wakamatsu M,
Nishikawa E,
Narita K,
Kataoka S,
Taniguchi R,
Narita A,
Nishio N,
Takahashi Y</span><br />
<span class="medgenPMjournal">Int J Hematol</span>
2023 Sep;118(3):411-417.
Epub 2023 Apr 19
doi: 10.1007/s12185-023-03590-2.
<span class="bold">PMID: </span><a href="/pubmed/37074509" target="_blank">37074509</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/25514788">Novel role for NFAT3 in ERK-mediated regulation of CXCR4.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huang K,
Kiefer C,
Kamal A</span><br />
<span class="medgenPMjournal">PLoS One</span>
2014;9(12):e115249.
Epub 2014 Dec 16
doi: 10.1371/journal.pone.0115249.
<span class="bold">PMID: </span><a href="/pubmed/25514788" target="_blank">25514788</a><a href="/pmc/articles/PMC4267837" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16091205">WHIM syndrome: a defect in CXCR4 signaling.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Diaz GA,
Gulino AV</span><br />
<span class="medgenPMjournal">Curr Allergy Asthma Rep</span>
2005 Sep;5(5):350-5.
doi: 10.1007/s11882-005-0005-0.
<span class="bold">PMID: </span><a href="/pubmed/16091205" target="_blank">16091205</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Warts%2C%20hypogammaglobulinemia%2C%20infections%2C%20and%20myelokathexis%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>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0472817%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (19)</a></li>
<li><a href="/gtr/tests?term=C0472817%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (29)</a></li>
<li><a href="/gtr/tests?term=C0472817%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0472817%5bDISCUI%5d" target="_blank">See all (33)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS193670" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Warts,%20hypogammaglobulinemia,%20infections,%20and%20myelokathexis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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