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<!--
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UID=799724
|
||
ConceptID=CN204279
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Syndrome with combined immunodeficiency</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>799724</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN204279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Orphanet:</td>
|
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<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=331217">ORPHA331217</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_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 unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Syndrome with combined immunodeficiency</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Syndrome with combined immunodeficiency</span><ul><li><span class="TLline"><a href="/medgen/338553" ref="tree=MeSH" title="MedGen record for Absent thumb-short stature-immunodeficiency syndrome">Absent thumb-short stature-immunodeficiency syndrome</a></span></li><li><span class="TLline"><a href="/medgen/929406" ref="tree=MeSH" title="MedGen record for Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome">Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1720168" ref="tree=MeSH" title="MedGen record for Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis">Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis</a></span></li><li><span class="TLline"><a href="/medgen/929240" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to CRAC channel dysfunction">Combined immunodeficiency due to CRAC channel dysfunction</a></span><ul><li><span class="TLline"><a href="/medgen/440578" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to ORAI1 deficiency">Combined immunodeficiency due to ORAI1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/440575" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to STIM1 deficiency">Combined immunodeficiency due to STIM1 deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83348" ref="tree=MeSH" title="MedGen record for Congenital defect of folate absorption">Congenital defect of folate absorption</a></span></li><li><span class="TLline"><a href="/medgen/1842938" ref="tree=MeSH" title="MedGen record for Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome">Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78580" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita">Dyskeratosis congenita</a></span><ul><li><span class="TLline"><a href="/medgen/502504" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita">Autosomal recessive dyskeratosis congenita</a></span><ul><li><span class="TLline"><a href="/medgen/341705" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 1">Dyskeratosis congenita, autosomal recessive 1</a></span></li><li><span class="TLline"><a href="/medgen/462791" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 2">Dyskeratosis congenita, autosomal recessive 2</a></span></li><li><span class="TLline"><a href="/medgen/462792" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 3">Dyskeratosis congenita, autosomal recessive 3</a></span></li><li><span class="TLline"><a href="/medgen/905452" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 6">Dyskeratosis congenita, autosomal recessive 6</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/462794" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita 4">Autosomal recessive dyskeratosis congenita 4</a></span></li><li><span class="TLline"><a href="/medgen/1645250" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 1">Dyskeratosis congenita, autosomal dominant 1</a></span><ul><li><span class="TLline"><a href="/medgen/462793" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 2">Dyskeratosis congenita, autosomal dominant 2</a></span></li><li><span class="TLline"><a href="/medgen/462795" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 3">Dyskeratosis congenita, autosomal dominant 3</a></span></li><li><span class="TLline"><a href="/medgen/815132" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 4">Dyskeratosis congenita, autosomal dominant 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/904824" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 6">Dyskeratosis congenita, autosomal dominant 6</a></span></li><li><span class="TLline"><a href="/medgen/767570" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 5">Dyskeratosis congenita, autosomal recessive 5</a></span></li><li><span class="TLline"><a href="/medgen/216941" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, X-linked">Dyskeratosis congenita, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/231230" ref="tree=MeSH" title="MedGen record for Revesz syndrome">Revesz syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/375786" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia and immune deficiency">Ectodermal dysplasia and immune deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/375787" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia and immunodeficiency 1">Ectodermal dysplasia and immunodeficiency 1</a></span></li><li><span class="TLline"><a href="/medgen/394295" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia and immunodeficiency 2">Ectodermal dysplasia and immunodeficiency 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/767490" ref="tree=MeSH" title="MedGen record for Facial dysmorphism-immunodeficiency-livedo-short stature syndrome">Facial dysmorphism-immunodeficiency-livedo-short stature syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1806192" ref="tree=MeSH" title="MedGen record for Gastrointestinal defects and immunodeficiency syndrome 1">Gastrointestinal defects and immunodeficiency syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1734133" ref="tree=MeSH" title="MedGen record for Growth hormone insensitivity with immune dysregulation 1, autosomal recessive">Growth hormone insensitivity with immune dysregulation 1, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/137946" ref="tree=MeSH" title="MedGen record for Hennekam lymphangiectasia-lymphedema syndrome">Hennekam lymphangiectasia-lymphedema syndrome</a></span></li><li><span class="TLline"><a href="/medgen/344659" ref="tree=MeSH" title="MedGen record for Hepatic veno-occlusive disease-immunodeficiency syndrome">Hepatic veno-occlusive disease-immunodeficiency syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337518" ref="tree=MeSH" title="MedGen record for Hoyeraal-Hreidarsson syndrome">Hoyeraal-Hreidarsson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/65090" ref="tree=MeSH" title="MedGen record for Multiple gastrointestinal atresias">Multiple gastrointestinal atresias</a></span></li><li><span class="TLline"><a href="/medgen/905078" ref="tree=MeSH" title="MedGen record for Pancytopenia due to IKZF1 mutations">Pancytopenia due to IKZF1 mutations</a></span></li><li><span class="TLline"><a href="/medgen/355713" ref="tree=MeSH" title="MedGen record for T-cell immunodeficiency, congenital alopecia, and nail dystrophy">T-cell immunodeficiency, congenital alopecia, and nail dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/137976" ref="tree=MeSH" title="MedGen record for Transcobalamin II deficiency">Transcobalamin II deficiency</a></span></li><li><span class="TLline"><a href="/medgen/340962" ref="tree=MeSH" title="MedGen record for Vici syndrome">Vici syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21921" ref="tree=MeSH" title="MedGen record for Wiskott-Aldrich syndrome">Wiskott-Aldrich syndrome</a></span></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=21998&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Syndrome with combined immunodeficiency</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/25627830">DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aydin SE,
|
||
Kilic SS,
|
||
Aytekin C,
|
||
Kumar A,
|
||
Porras O,
|
||
Kainulainen L,
|
||
Kostyuchenko L,
|
||
Genel F,
|
||
Kütükcüler N,
|
||
Karaca N,
|
||
Gonzalez-Granado L,
|
||
Abbott J,
|
||
Al-Zahrani D,
|
||
Rezaei N,
|
||
Baz Z,
|
||
Thiel J,
|
||
Ehl S,
|
||
Marodi L,
|
||
Orange JS,
|
||
Sawalle-Belohradsky J,
|
||
Keles S,
|
||
Holland SM,
|
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Sanal Ö,
|
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Ayvaz DC,
|
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Tezcan I,
|
||
Al-Mousa H,
|
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Alsum Z,
|
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Hawwari A,
|
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Metin A,
|
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Matthes-Martin S,
|
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Hönig M,
|
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Schulz A,
|
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Picard C,
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Barlogis V,
|
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Gennery A,
|
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Ifversen M,
|
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van Montfrans J,
|
||
Kuijpers T,
|
||
Bredius R,
|
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Dückers G,
|
||
Al-Herz W,
|
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Pai SY,
|
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Geha R,
|
||
Notheis G,
|
||
Schwarze CP,
|
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Tavil B,
|
||
Azik F,
|
||
Bienemann K,
|
||
Grimbacher B,
|
||
Heinz V,
|
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Gaspar HB,
|
||
Aydin R,
|
||
Hagl B,
|
||
Gathmann B,
|
||
Belohradsky BH,
|
||
Ochs HD,
|
||
Chatila T,
|
||
Renner ED,
|
||
Su H,
|
||
Freeman AF,
|
||
Engelhardt K,
|
||
Albert MH;
|
||
inborn errors working party of EBMT</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2015 Feb;35(2):189-98.
|
||
Epub 2015 Jan 28
|
||
doi: 10.1007/s10875-014-0126-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25627830" target="_blank">25627830</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22syndrome%20with%20combined%20immunodeficiency%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/38228406">Primary and secondary defects of the thymus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dinges SS,
|
||
Amini K,
|
||
Notarangelo LD,
|
||
Delmonte OM</span><br />
|
||
<span class="medgenPMjournal">Immunol Rev</span>
|
||
2024 Mar;322(1):178-211.
|
||
Epub 2024 Jan 16
|
||
doi: 10.1111/imr.13306.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38228406" target="_blank">38228406</a><a href="/pmc/articles/PMC10950553" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34867986">Monogenic Adult-Onset Inborn Errors of Immunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Staels F,
|
||
Collignon T,
|
||
Betrains A,
|
||
Gerbaux M,
|
||
Willemsen M,
|
||
Humblet-Baron S,
|
||
Liston A,
|
||
Vanderschueren S,
|
||
Schrijvers R</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:753978.
|
||
Epub 2021 Nov 17
|
||
doi: 10.3389/fimmu.2021.753978.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34867986" target="_blank">34867986</a><a href="/pmc/articles/PMC8635491" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33340461">Combined immunodeficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aranda CS,
|
||
Guimarães RR,
|
||
de Gouveia-Pereira Pimentel M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr (Rio J)</span>
|
||
2021 Mar-Apr;97 Suppl 1(Suppl 1):S39-S48.
|
||
Epub 2020 Dec 17
|
||
doi: 10.1016/j.jped.2020.10.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33340461" target="_blank">33340461</a><a href="/pmc/articles/PMC9432339" 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/2426038">Pediatric AIDS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rubinstein A</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Pediatr</span>
|
||
1986 Jul;16(7):361-409.
|
||
doi: 10.1016/0045-9380(86)90018-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2426038" target="_blank">2426038</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndrome%20with%20combined%20immunodeficiency%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 (3781)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37729389">Good's syndrome: brief overview of an enigmatic immune deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sipos F,
|
||
Műzes G</span><br />
|
||
<span class="medgenPMjournal">APMIS</span>
|
||
2023 Dec;131(12):698-704.
|
||
Epub 2023 Sep 20
|
||
doi: 10.1111/apm.13351.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37729389" target="_blank">37729389</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34867986">Monogenic Adult-Onset Inborn Errors of Immunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Staels F,
|
||
Collignon T,
|
||
Betrains A,
|
||
Gerbaux M,
|
||
Willemsen M,
|
||
Humblet-Baron S,
|
||
Liston A,
|
||
Vanderschueren S,
|
||
Schrijvers R</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:753978.
|
||
Epub 2021 Nov 17
|
||
doi: 10.3389/fimmu.2021.753978.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34867986" target="_blank">34867986</a><a href="/pmc/articles/PMC8635491" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31690396">Approach to primary immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Devonshire AL,
|
||
Makhija M</span><br />
|
||
<span class="medgenPMjournal">Allergy Asthma Proc</span>
|
||
2019 Nov 1;40(6):465-469.
|
||
doi: 10.2500/aap.2019.40.4273.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31690396" target="_blank">31690396</a><a href="/pmc/articles/PMC11275965" 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/1433695">Immunodeficiency diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buckley RH</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1992 Nov 25;268(20):2797-806.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1433695" target="_blank">1433695</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndrome%20with%20combined%20immunodeficiency%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 (3457)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38194689">Clinical and functional spectrum of RAC2-related immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donkó Á,
|
||
Sharapova SO,
|
||
Kabat J,
|
||
Ganesan S,
|
||
Hauck FH,
|
||
Bergerson JRE,
|
||
Marois L,
|
||
Abbott J,
|
||
Moshous D,
|
||
Williams KW,
|
||
Campbell N,
|
||
Martin PL,
|
||
Lagresle-Peyrou C,
|
||
Trojan T,
|
||
Kuzmenko NB,
|
||
Deordieva EA,
|
||
Raykina EV,
|
||
Abers MS,
|
||
Abolhassani H,
|
||
Barlogis V,
|
||
Milla C,
|
||
Hall G,
|
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Mousallem T,
|
||
Church J,
|
||
Kapoor N,
|
||
Cros G,
|
||
Chapdelaine H,
|
||
Franco-Jarava C,
|
||
Lopez-Lerma I,
|
||
Miano M,
|
||
Leiding JW,
|
||
Klein C,
|
||
Stasia MJ,
|
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Fischer A,
|
||
Hsiao KC,
|
||
Martelius T,
|
||
Seppänen MRJ,
|
||
Barmettler S,
|
||
Walter J,
|
||
Masmas TN,
|
||
Mukhina AA,
|
||
Falcone EL,
|
||
Kracker S,
|
||
Shcherbina A,
|
||
Holland SM,
|
||
Leto TL,
|
||
Hsu AP</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2024 Apr 11;143(15):1476-1487.
|
||
doi: 10.1182/blood.2023022098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38194689" target="_blank">38194689</a><a href="/pmc/articles/PMC11033590" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24111611">Genetics on a WHIM.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Ustwani O,
|
||
Kurzrock R,
|
||
Wetzler M</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2014 Jan;164(1):15-23.
|
||
Epub 2013 Sep 20
|
||
doi: 10.1111/bjh.12574.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24111611" target="_blank">24111611</a><a href="/pmc/articles/PMC3961560" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10931128">TAP deficiency syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gadola SD,
|
||
Moins-Teisserenc HT,
|
||
Trowsdale J,
|
||
Gross WL,
|
||
Cerundolo V</span><br />
|
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<span class="medgenPMjournal">Clin Exp Immunol</span>
|
||
2000 Aug;121(2):173-8.
|
||
doi: 10.1046/j.1365-2249.2000.01264.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10931128" target="_blank">10931128</a><a href="/pmc/articles/PMC1905688" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2426038">Pediatric AIDS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rubinstein A</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Pediatr</span>
|
||
1986 Jul;16(7):361-409.
|
||
doi: 10.1016/0045-9380(86)90018-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2426038" target="_blank">2426038</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6205233">Non-Hodgkin's lymphomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haller DG</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
1984 May;68(3):741-56.
|
||
doi: 10.1016/s0025-7125(16)31126-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6205233" target="_blank">6205233</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndrome%20with%20combined%20immunodeficiency%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 (4883)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34447369">Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">López-Nevado M,
|
||
González-Granado LI,
|
||
Ruiz-García R,
|
||
Pleguezuelo D,
|
||
Cabrera-Marante O,
|
||
Salmón N,
|
||
Blanco-Lobo P,
|
||
Domínguez-Pinilla N,
|
||
Rodríguez-Pena R,
|
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Sebastián E,
|
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Cruz-Rojo J,
|
||
Olbrich P,
|
||
Ruiz-Contreras J,
|
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Paz-Artal E,
|
||
Neth O,
|
||
Allende LM</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:671755.
|
||
Epub 2021 Aug 10
|
||
doi: 10.3389/fimmu.2021.671755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34447369" target="_blank">34447369</a><a href="/pmc/articles/PMC8382720" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34084169">Editorial: Advances in Primary Immunodeficiency in Central-Eastern Europe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pac M,
|
||
Casanova JL,
|
||
Reisli I,
|
||
Maródi L</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:667727.
|
||
Epub 2021 May 14
|
||
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|
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<span class="bold">PMID: </span><a href="/pubmed/34084169" target="_blank">34084169</a><a href="/pmc/articles/PMC8168433" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/33340461">Combined immunodeficiencies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Aranda CS,
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|
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<span class="bold">PMID: </span><a href="/pubmed/33340461" target="_blank">33340461</a><a href="/pmc/articles/PMC9432339" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/10882178" target="_blank">10882178</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/6205233">Non-Hodgkin's lymphomas.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Haller DG</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/6205233" target="_blank">6205233</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndrome%20with%20combined%20immunodeficiency%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 (2277)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38194689">Clinical and functional spectrum of RAC2-related immunodeficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Donkó Á,
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Sharapova SO,
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Kabat J,
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Hauck FH,
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Marois L,
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Moshous D,
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Abers MS,
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Abolhassani H,
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Barlogis V,
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Hall G,
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Leiding JW,
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Klein C,
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Stasia MJ,
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Fischer A,
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<div class="nl"><a target="_blank" href="/pubmed/37045841">WHIM Syndrome-linked CXCR4 mutations drive osteoporosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Anginot A,
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Nguyen J,
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Abou Nader Z,
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Rondeau V,
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Cohen-Solal M,
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Espéli M,
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2023 Apr 12;14(1):2058.
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doi: 10.1038/s41467-023-37791-4.
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<span class="bold">PMID: </span><a href="/pubmed/37045841" target="_blank">37045841</a><a href="/pmc/articles/PMC10097661" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31826240">Gene therapy for severe combined immunodeficiencies and beyond.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fischer A,
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<div class="nl"><a target="_blank" href="/pubmed/25251832">HIV and the spectrum of human disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lucas S,
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2015 Jan;235(2):229-41.
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<span class="bold">PMID: </span><a href="/pubmed/25251832" target="_blank">25251832</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22236427">DOCK8 deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Su HC,
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<span class="medgenPMjournal">Ann N Y Acad Sci</span>
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2011 Dec;1246:26-33.
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<span class="bold">PMID: </span><a href="/pubmed/22236427" target="_blank">22236427</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndrome%20with%20combined%20immunodeficiency%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 (2220)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/34447369">Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">López-Nevado M,
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||
González-Granado LI,
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||
Ruiz-García R,
|
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Pleguezuelo D,
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||
Cabrera-Marante O,
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||
Salmón N,
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||
Blanco-Lobo P,
|
||
Domínguez-Pinilla N,
|
||
Rodríguez-Pena R,
|
||
Sebastián E,
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||
Cruz-Rojo J,
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Olbrich P,
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||
Ruiz-Contreras J,
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Paz-Artal E,
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Neth O,
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Allende LM</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
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||
2021;12:671755.
|
||
Epub 2021 Aug 10
|
||
doi: 10.3389/fimmu.2021.671755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34447369" target="_blank">34447369</a><a href="/pmc/articles/PMC8382720" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30704613">Cardiac Dysfunction Among People Living With HIV: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erqou S,
|
||
Lodebo BT,
|
||
Masri A,
|
||
Altibi AM,
|
||
Echouffo-Tcheugui JB,
|
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Dzudie A,
|
||
Ataklte F,
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||
Choudhary G,
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||
Bloomfield GS,
|
||
Wu WC,
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Kengne AP</span><br />
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<span class="medgenPMjournal">JACC Heart Fail</span>
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||
2019 Feb;7(2):98-108.
|
||
doi: 10.1016/j.jchf.2018.10.006.
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||
<span class="bold">PMID: </span><a href="/pubmed/30704613" target="_blank">30704613</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28112552">Acupuncture for the Treatment of Peripheral Neuropathy: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dimitrova A,
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Murchison C,
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||
Oken B</span><br />
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<span class="medgenPMjournal">J Altern Complement Med</span>
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||
2017 Mar;23(3):164-179.
|
||
Epub 2017 Jan 23
|
||
doi: 10.1089/acm.2016.0155.
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||
<span class="bold">PMID: </span><a href="/pubmed/28112552" target="_blank">28112552</a><a href="/pmc/articles/PMC5359694" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/26394212">A Systematic Review and Meta-Analysis of the Efficacy of Anti-Toxoplasma gondii Medicines in Humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei HX,
|
||
Wei SS,
|
||
Lindsay DS,
|
||
Peng HJ</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2015;10(9):e0138204.
|
||
Epub 2015 Sep 22
|
||
doi: 10.1371/journal.pone.0138204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26394212" target="_blank">26394212</a><a href="/pmc/articles/PMC4578932" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20334848">Immune reconstitution inflammatory syndrome in patients starting antiretroviral therapy for HIV infection: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Müller M,
|
||
Wandel S,
|
||
Colebunders R,
|
||
Attia S,
|
||
Furrer H,
|
||
Egger M;
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IeDEA Southern and Central Africa</span><br />
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<span class="medgenPMjournal">Lancet Infect Dis</span>
|
||
2010 Apr;10(4):251-61.
|
||
doi: 10.1016/S1473-3099(10)70026-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20334848" target="_blank">20334848</a><a href="/pmc/articles/PMC4183458" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Syndrome%20with%20combined%20immunodeficiency%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (85)</a></div></div>
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