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<!--
|
||
UID=1842865
|
||
ConceptID=C5680098
|
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-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Non-SCID combined immunodeficiency</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1842865</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.">C5680098</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>Non-severe combined immunodeficiency</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018814" target="_blank">MONDO:0018814</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=480549">ORPHA480549</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>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Non-SCID combined immunodeficiency</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Non-SCID combined immunodeficiency</span><ul><li><span class="TLline"><a href="/medgen/1641265" ref="tree=MeSH" title="MedGen record for BENTA disease">BENTA disease</a></span></li><li><span class="TLline"><a href="/medgen/369590" ref="tree=MeSH" title="MedGen record for Cernunnos-XLF deficiency">Cernunnos-XLF deficiency</a></span></li><li><span class="TLline"><a href="/medgen/816437" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to CD3gamma deficiency">Combined immunodeficiency due to CD3gamma deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1648410" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to DOCK8 deficiency">Combined immunodeficiency due to DOCK8 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/766426" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to LRBA deficiency">Combined immunodeficiency due to LRBA deficiency</a></span></li><li><span class="TLline"><a href="/medgen/815913" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to MALT1 deficiency">Combined immunodeficiency due to MALT1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1799546" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to moesin deficiency">Combined immunodeficiency due to moesin deficiency</a></span></li><li><span class="TLline"><a href="/medgen/816383" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to OX40 deficiency">Combined immunodeficiency due to OX40 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/372161" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to partial RAG1 deficiency">Combined immunodeficiency due to partial RAG1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1843216" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to RELA haploinsufficiency">Combined immunodeficiency due to RELA haploinsufficiency</a></span></li><li><span class="TLline"><a href="/medgen/766857" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to STK4 deficiency">Combined immunodeficiency due to STK4 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1809040" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency due to ZAP70 deficiency">Combined immunodeficiency due to ZAP70 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/435945" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency with skin granulomas">Combined immunodeficiency with skin granulomas</a></span></li><li><span class="TLline"><a href="/medgen/767601" ref="tree=MeSH" title="MedGen record for Cryptosporidiosis-chronic cholangitis-liver disease syndrome">Cryptosporidiosis-chronic cholangitis-liver disease syndrome</a></span></li><li><span class="TLline"><a href="/medgen/339855" ref="tree=MeSH" title="MedGen record for DNA ligase IV deficiency">DNA ligase IV deficiency</a></span></li><li><span class="TLline"><a href="/medgen/901370" ref="tree=MeSH" title="MedGen record for DOCK2 deficiency">DOCK2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/398130" ref="tree=MeSH" title="MedGen record for Histiocytic medullary reticulosis">Histiocytic medullary reticulosis</a></span></li><li><span class="TLline"><a href="/medgen/1673500" ref="tree=MeSH" title="MedGen record for Hyper-IgM syndrome with susceptibility to opportunistic infections">Hyper-IgM syndrome with susceptibility to opportunistic infections</a></span><ul><li><span class="TLline"><a href="/medgen/96019" ref="tree=MeSH" title="MedGen record for Hyper-IgM syndrome type 1">Hyper-IgM syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/328419" ref="tree=MeSH" title="MedGen record for Hyper-IgM syndrome type 3">Hyper-IgM syndrome type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/816098" ref="tree=MeSH" title="MedGen record for Idiopathic CD4 lymphocytopenia">Idiopathic CD4 lymphocytopenia</a></span></li><li><span class="TLline"><a href="/medgen/1799211" ref="tree=MeSH" title="MedGen record for IL21-related infantile inflammatory bowel disease">IL21-related infantile inflammatory bowel disease</a></span></li><li><span class="TLline"><a href="/medgen/765548" ref="tree=MeSH" title="MedGen record for Lymphoproliferative syndrome 1">Lymphoproliferative syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/346868" ref="tree=MeSH" title="MedGen record for MHC class I deficiency">MHC class I deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/343422" ref="tree=MeSH" title="MedGen record for Hypoproteinemia, hypercatabolic">Hypoproteinemia, hypercatabolic</a></span></li><li><span class="TLline"><a href="/medgen/1054452" ref="tree=MeSH" title="MedGen record for MHC class I deficiency 1">MHC class I deficiency 1</a></span></li><li><span class="TLline"><a href="/medgen/1862135" ref="tree=MeSH" title="MedGen record for MHC class I deficiency 2">MHC class I deficiency 2</a></span></li><li><span class="TLline"><a href="/medgen/1858909" ref="tree=MeSH" title="MedGen record for MHC class I deficiency 3">MHC class I deficiency 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1781237" ref="tree=MeSH" title="MedGen record for MHC class II deficiency">MHC class II deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1052659" ref="tree=MeSH" title="MedGen record for MHC class II deficiency 1">MHC class II deficiency 1</a></span></li><li><span class="TLline"><a href="/medgen/347904" ref="tree=MeSH" title="MedGen record for MHC class II deficiency 2">MHC class II deficiency 2</a></span></li><li><span class="TLline"><a href="/medgen/347175" ref="tree=MeSH" title="MedGen record for MHC class II deficiency 3">MHC class II deficiency 3</a></span></li><li><span class="TLline"><a href="/medgen/347176" ref="tree=MeSH" title="MedGen record for MHC class II deficiency 4">MHC class II deficiency 4</a></span></li><li><span class="TLline"><a href="/medgen/349183" ref="tree=MeSH" title="MedGen record for MHC class II deficiency 5">MHC class II deficiency 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1808868" ref="tree=MeSH" title="MedGen record for NIK deficiency">NIK deficiency</a></span></li><li><span class="TLline"><a href="/medgen/75653" ref="tree=MeSH" title="MedGen record for Purine-nucleoside phosphorylase deficiency">Purine-nucleoside phosphorylase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/323058" ref="tree=MeSH" title="MedGen record for Susceptibility to respiratory infections associated with CD8alpha chain mutation">Susceptibility to respiratory infections associated with CD8alpha chain mutation</a></span></li><li><span class="TLline"><a href="/medgen/815662" ref="tree=MeSH" title="MedGen record for TCR-alpha-beta-positive T-cell deficiency">TCR-alpha-beta-positive T-cell deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1799556" ref="tree=MeSH" title="MedGen record for TFRC-related combined immunodeficiency">TFRC-related combined immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/477076" ref="tree=MeSH" title="MedGen record for X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia">X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia</a></span></li></ul></li></ul></div></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/34537207">Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blom M,
|
||
Zetterström RH,
|
||
Stray-Pedersen A,
|
||
Gilmour K,
|
||
Gennery AR,
|
||
Puck JM,
|
||
van der Burg M</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2022 Apr;149(4):1428-1436.
|
||
Epub 2021 Sep 16
|
||
doi: 10.1016/j.jaci.2021.08.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34537207" target="_blank">34537207</a><a href="/pmc/articles/PMC9278646" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30565242">Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Puck JM</span><br />
|
||
<span class="medgenPMjournal">Immunol Rev</span>
|
||
2019 Jan;287(1):241-252.
|
||
doi: 10.1111/imr.12729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30565242" target="_blank">30565242</a><a href="/pmc/articles/PMC6324582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25893636">TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Spek J,
|
||
Groenwold RH,
|
||
van der Burg M,
|
||
van Montfrans JM</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2015 May;35(4):416-30.
|
||
Epub 2015 Apr 17
|
||
doi: 10.1007/s10875-015-0152-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25893636" target="_blank">25893636</a><a href="/pmc/articles/PMC4438204" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(non-scid%20combined%20immunodeficiency)%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 (20)</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/37279857">CD3(+)TCRαβ/CD19(+)-Depleted Mismatched Family or Unrelated Donor Salvage Stem Cell Transplantation for Graft Dysfunction in Inborn Errors of Immunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramanathan S,
|
||
Lum SH,
|
||
Nademi Z,
|
||
Carruthers K,
|
||
Watson H,
|
||
Flood T,
|
||
Owens S,
|
||
Williams E,
|
||
Hambleton S,
|
||
Gennery AR,
|
||
Slatter M</span><br />
|
||
<span class="medgenPMjournal">Transplant Cell Ther</span>
|
||
2023 Aug;29(8):513.e1-513.e9.
|
||
Epub 2023 Jun 4
|
||
doi: 10.1016/j.jtct.2023.05.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37279857" target="_blank">37279857</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35729475">Severe Combined Immunodeficiency (SCID) Screening in Arizona: Lessons Learned from the First 2 Years.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Booth NA,
|
||
Freeman CM,
|
||
Wright BL,
|
||
Rukasin C,
|
||
Badia P,
|
||
Daines M,
|
||
Bauer CS,
|
||
Miller H</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2022 Aug;42(6):1321-1329.
|
||
Epub 2022 Jun 22
|
||
doi: 10.1007/s10875-022-01307-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35729475" target="_blank">35729475</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35503492">SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barreiros LA,
|
||
Sousa JL,
|
||
Geier C,
|
||
Leiss-Piller A,
|
||
Kanegae MPP,
|
||
França TT,
|
||
Boisson B,
|
||
Lima AM,
|
||
Costa-Carvalho BT,
|
||
Aranda CS,
|
||
de Moraes-Pinto MI,
|
||
Segundo GRS,
|
||
Ferreira JFS,
|
||
Tavares FS,
|
||
Guimarães FATM,
|
||
Toledo EC,
|
||
da Matta Ain AC,
|
||
Moreira IF,
|
||
Soldatelli G,
|
||
Grumach AS,
|
||
de Barros Dorna M,
|
||
Weber CW,
|
||
Di Gesu RSW,
|
||
Dantas VM,
|
||
Fernandes FR,
|
||
Torgerson TR,
|
||
Ochs HD,
|
||
Bustamante J,
|
||
Walter JE,
|
||
Condino-Neto A</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2022 Aug;42(6):1171-1192.
|
||
Epub 2022 May 3
|
||
doi: 10.1007/s10875-022-01275-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35503492" target="_blank">35503492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31054932">Infectivity of GII.4 human norovirus does not differ between T-B-NK(+) severe combined immunodeficiency (SCID) and non-SCID gnotobiotic pigs, implicating the role of NK cells in mediation of human norovirus infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Annamalai T,
|
||
Lu Z,
|
||
Jung K,
|
||
Langel SN,
|
||
Tuggle CK,
|
||
Dekkers JCM,
|
||
Waide EH,
|
||
Kandasamy S,
|
||
Saif LJ</span><br />
|
||
<span class="medgenPMjournal">Virus Res</span>
|
||
2019 Jul 2;267:21-25.
|
||
Epub 2019 May 2
|
||
doi: 10.1016/j.virusres.2019.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31054932" target="_blank">31054932</a><a href="/pmc/articles/PMC6534450" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21281863">Advances in basic and clinical immunology in 2010.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chinen J,
|
||
Shearer WT</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2011 Feb;127(2):336-41.
|
||
doi: 10.1016/j.jaci.2010.11.042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21281863" target="_blank">21281863</a><a href="/pmc/articles/PMC3057129" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Non-SCID%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 (28)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35729475">Severe Combined Immunodeficiency (SCID) Screening in Arizona: Lessons Learned from the First 2 Years.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Booth NA,
|
||
Freeman CM,
|
||
Wright BL,
|
||
Rukasin C,
|
||
Badia P,
|
||
Daines M,
|
||
Bauer CS,
|
||
Miller H</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2022 Aug;42(6):1321-1329.
|
||
Epub 2022 Jun 22
|
||
doi: 10.1007/s10875-022-01307-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35729475" target="_blank">35729475</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34537207">Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blom M,
|
||
Zetterström RH,
|
||
Stray-Pedersen A,
|
||
Gilmour K,
|
||
Gennery AR,
|
||
Puck JM,
|
||
van der Burg M</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2022 Apr;149(4):1428-1436.
|
||
Epub 2021 Sep 16
|
||
doi: 10.1016/j.jaci.2021.08.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34537207" target="_blank">34537207</a><a href="/pmc/articles/PMC9278646" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33415666">TREC Screening for WHIM Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evans MO 2nd,
|
||
Petersen MM,
|
||
Khojah A,
|
||
Jyonouchi SC,
|
||
Edwardson GS,
|
||
Khan YW,
|
||
Connelly JA,
|
||
Morris D,
|
||
Majumdar S,
|
||
McDermott DH,
|
||
Walter JE,
|
||
Murphy PM</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2021 Apr;41(3):621-628.
|
||
Epub 2021 Jan 7
|
||
doi: 10.1007/s10875-020-00921-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33415666" target="_blank">33415666</a><a href="/pmc/articles/PMC7925426" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32928653">Review: Why screen for severe combined immunodeficiency disease?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas C,
|
||
Hubert G,
|
||
Catteau A,
|
||
Danielo M,
|
||
Riche VP,
|
||
Mahlaoui N,
|
||
Moshous D,
|
||
Audrain M</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr</span>
|
||
2020 Nov;27(8):485-489.
|
||
Epub 2020 Sep 11
|
||
doi: 10.1016/j.arcped.2020.08.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32928653" target="_blank">32928653</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30565242">Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Puck JM</span><br />
|
||
<span class="medgenPMjournal">Immunol Rev</span>
|
||
2019 Jan;287(1):241-252.
|
||
doi: 10.1111/imr.12729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30565242" target="_blank">30565242</a><a href="/pmc/articles/PMC6324582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Non-SCID%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 (33)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37279857">CD3(+)TCRαβ/CD19(+)-Depleted Mismatched Family or Unrelated Donor Salvage Stem Cell Transplantation for Graft Dysfunction in Inborn Errors of Immunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramanathan S,
|
||
Lum SH,
|
||
Nademi Z,
|
||
Carruthers K,
|
||
Watson H,
|
||
Flood T,
|
||
Owens S,
|
||
Williams E,
|
||
Hambleton S,
|
||
Gennery AR,
|
||
Slatter M</span><br />
|
||
<span class="medgenPMjournal">Transplant Cell Ther</span>
|
||
2023 Aug;29(8):513.e1-513.e9.
|
||
Epub 2023 Jun 4
|
||
doi: 10.1016/j.jtct.2023.05.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37279857" target="_blank">37279857</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33415666">TREC Screening for WHIM Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evans MO 2nd,
|
||
Petersen MM,
|
||
Khojah A,
|
||
Jyonouchi SC,
|
||
Edwardson GS,
|
||
Khan YW,
|
||
Connelly JA,
|
||
Morris D,
|
||
Majumdar S,
|
||
McDermott DH,
|
||
Walter JE,
|
||
Murphy PM</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2021 Apr;41(3):621-628.
|
||
Epub 2021 Jan 7
|
||
doi: 10.1007/s10875-020-00921-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33415666" target="_blank">33415666</a><a href="/pmc/articles/PMC7925426" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33141919">Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lum SH,
|
||
Elfeky R,
|
||
Achini FR,
|
||
Margarit-Soler A,
|
||
Cinicola B,
|
||
Perez-Heras I,
|
||
Nademi Z,
|
||
Flood T,
|
||
Cheetham T,
|
||
Worth A,
|
||
Qasim W,
|
||
Amin R,
|
||
Rao K,
|
||
Chiesa R,
|
||
Bredius RGM,
|
||
Amrolia P,
|
||
Abinun M,
|
||
Hambleton S,
|
||
Veys P,
|
||
Gennery AR,
|
||
Lankester A,
|
||
Slatter M</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2021 Jan;41(1):171-184.
|
||
Epub 2020 Nov 3
|
||
doi: 10.1007/s10875-020-00895-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33141919" target="_blank">33141919</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31054932">Infectivity of GII.4 human norovirus does not differ between T-B-NK(+) severe combined immunodeficiency (SCID) and non-SCID gnotobiotic pigs, implicating the role of NK cells in mediation of human norovirus infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Annamalai T,
|
||
Lu Z,
|
||
Jung K,
|
||
Langel SN,
|
||
Tuggle CK,
|
||
Dekkers JCM,
|
||
Waide EH,
|
||
Kandasamy S,
|
||
Saif LJ</span><br />
|
||
<span class="medgenPMjournal">Virus Res</span>
|
||
2019 Jul 2;267:21-25.
|
||
Epub 2019 May 2
|
||
doi: 10.1016/j.virusres.2019.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31054932" target="_blank">31054932</a><a href="/pmc/articles/PMC6534450" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21281863">Advances in basic and clinical immunology in 2010.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chinen J,
|
||
Shearer WT</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2011 Feb;127(2):336-41.
|
||
doi: 10.1016/j.jaci.2010.11.042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21281863" target="_blank">21281863</a><a href="/pmc/articles/PMC3057129" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Non-SCID%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 (12)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33141919">Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lum SH,
|
||
Elfeky R,
|
||
Achini FR,
|
||
Margarit-Soler A,
|
||
Cinicola B,
|
||
Perez-Heras I,
|
||
Nademi Z,
|
||
Flood T,
|
||
Cheetham T,
|
||
Worth A,
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<span class="bold">PMID: </span><a href="/pubmed/33141919" target="_blank">33141919</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32928653">Review: Why screen for severe combined immunodeficiency disease?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thomas C,
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<div class="nl"><a target="_blank" href="/pubmed/30590619">Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies Beyond Severe Combined Immunodeficiency.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25893636">TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van der Spek J,
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Groenwold RH,
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van der Burg M,
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<span class="bold">PMID: </span><a href="/pubmed/25893636" target="_blank">25893636</a><a href="/pmc/articles/PMC4438204" 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=%22Non-SCID%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 (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34539671">Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mantravadi V,
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<span class="bold">PMID: </span><a href="/pubmed/34539671" target="_blank">34539671</a><a href="/pmc/articles/PMC8446381" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33141919">Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency.</a></div>
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Bredius RGM,
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Amrolia P,
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Abinun M,
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Hambleton S,
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Veys P,
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Gennery AR,
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<span class="medgenPMjournal">J Clin Immunol</span>
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2021 Jan;41(1):171-184.
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Epub 2020 Nov 3
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doi: 10.1007/s10875-020-00895-3.
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<span class="bold">PMID: </span><a href="/pubmed/33141919" target="_blank">33141919</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/31054932">Infectivity of GII.4 human norovirus does not differ between T-B-NK(+) severe combined immunodeficiency (SCID) and non-SCID gnotobiotic pigs, implicating the role of NK cells in mediation of human norovirus infection.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Annamalai T,
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Lu Z,
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Jung K,
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<div class="nl"><a target="_blank" href="/pubmed/25893636">TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van der Spek J,
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Groenwold RH,
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van der Burg M,
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<div class="nl"><a target="_blank" href="/pubmed/25138334">Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.</a></div>
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Celestin J,
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Dave N,
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Forbes L,
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Freedenberg D,
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Gelfand EW,
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Hale JE,
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Hanson IC,
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Hay BN,
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Hu D,
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Infante A,
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Johnson D,
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Kapoor N,
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Kay DM,
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Kohn DB,
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Lee R,
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Lehman H,
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Lin Z,
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Lorey F,
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Abdel-Mageed A,
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Manning A,
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Moore TB,
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Naides SJ,
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Orange JS,
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Pai SY,
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Porteus M,
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Rodriguez R,
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Romberg N,
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Routes J,
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Ruehle M,
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Rubenstein A,
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Saavedra-Matiz CA,
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Scott G,
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Scott PM,
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Secord E,
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Seroogy C,
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Shearer WT,
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Siegel S,
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Silvers SK,
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Stiehm ER,
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Sugerman RW,
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Sullivan JL,
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Tanksley S,
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Tierce ML 4th,
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Verbsky J,
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Vogel B,
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Walker R,
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Walkovich K,
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Walter JE,
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Wasserman RL,
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Watson MS,
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Weinberg GA,
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Weiner LB,
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Wood H,
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Yates AB,
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<span class="bold">PMID: </span><a href="/pubmed/25138334" target="_blank">25138334</a><a href="/pmc/articles/PMC4492158" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Non-SCID%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 (10)</a></div></div>
|
||
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|
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|
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<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/34537207">Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blom M,
|
||
Zetterström RH,
|
||
Stray-Pedersen A,
|
||
Gilmour K,
|
||
Gennery AR,
|
||
Puck JM,
|
||
van der Burg M</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2022 Apr;149(4):1428-1436.
|
||
Epub 2021 Sep 16
|
||
doi: 10.1016/j.jaci.2021.08.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34537207" target="_blank">34537207</a><a href="/pmc/articles/PMC9278646" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25893636">TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Spek J,
|
||
Groenwold RH,
|
||
van der Burg M,
|
||
van Montfrans JM</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2015 May;35(4):416-30.
|
||
Epub 2015 Apr 17
|
||
doi: 10.1007/s10875-015-0152-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25893636" target="_blank">25893636</a><a href="/pmc/articles/PMC4438204" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Non-SCID%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 (2)</a></div></div>
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|
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