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<!--
|
||
UID=751396
|
||
ConceptID=C2711630
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Combined immunodeficiency</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>751396</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.">C2711630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Combined T and B cell immunodeficiency; Congenital combined immunodeficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Combined immunodeficiency disease (442459007)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0005387">HP:0005387</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015131" target="_blank">MONDO:0015131</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=101972">ORPHA101972</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2711630[DISCUI]&test_type=Clinical" ref="ncbi_uid=751396">C</a></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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=751396" ref="ncbi_uid=751396">V</a></span></span><span class="TLline">Combined immunodeficiency</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/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="matched_ds">Combined immunodeficiency</span><ul><li><span class="TLline"><a href="/medgen/439" ref="tree=MeSH" title="MedGen record for Ataxia-telangiectasia syndrome">Ataxia-telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/124417" ref="tree=MeSH" title="MedGen record for Reticular dysgenesis">Reticular dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/88328" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency disease">Severe combined immunodeficiency disease</a></span><ul><li><span class="TLline"><a href="/medgen/120610" ref="tree=MeSH" title="MedGen record for Adenosine deaminase deficiency">Adenosine deaminase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/400751" ref="tree=MeSH" title="MedGen record for Athabaskan severe combined immunodeficiency">Athabaskan severe combined immunodeficiency</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/1791958" ref="tree=MeSH" title="MedGen record for Leaky Severe Combined Immunodeficiency">Leaky Severe Combined Immunodeficiency</a></span></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/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/69211" ref="tree=MeSH" title="MedGen record for SCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens)">SCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens)</a></span><ul><li><span class="TLline"><a href="/medgen/444051" ref="tree=MeSH" title="MedGen record for Bare Lymphocyte Syndrome Type 2">Bare Lymphocyte Syndrome Type 2</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></li></ul></li><li><span class="TLline"><a href="/medgen/863270" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency due to DNA-PKcs deficiency">Severe combined immunodeficiency due to DNA-PKcs deficiency</a></span></li><li><span class="TLline"><a href="/medgen/364745" ref="tree=MeSH" title="MedGen record for Severe Combined Immunodeficiency with Absence of T and B Cells">Severe Combined Immunodeficiency with Absence of T and B Cells</a></span><ul><li><span class="TLline"><a href="/medgen/1784091" ref="tree=MeSH" title="MedGen record for Severe Combined Immunodeficiency due to RAG1 Deficiency">Severe Combined Immunodeficiency due to RAG1 Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1785950" ref="tree=MeSH" title="MedGen record for Severe Combined Immunodeficiency due to RAG2 Deficiency">Severe Combined Immunodeficiency due to RAG2 Deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/364744" ref="tree=MeSH" title="MedGen record for Severe Combined Immunodeficiency with Absence of T, Normal B Cells">Severe Combined Immunodeficiency with Absence of T, Normal B Cells</a></span></li><li><span class="TLline"><a href="/medgen/354935" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency">Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/373235" ref="tree=MeSH" title="MedGen record for Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive">Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive</a></span><ul><li><span class="TLline"><a href="/medgen/1784677" ref="tree=MeSH" title="MedGen record for Severe Combined Immunodeficiency due to CD45 Deficiency">Severe Combined Immunodeficiency due to CD45 Deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/929461" ref="tree=MeSH" title="MedGen record for Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome">Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/331474" ref="tree=MeSH" title="MedGen record for T-B+ severe combined immunodeficiency due to JAK3 deficiency">T-B+ severe combined immunodeficiency due to JAK3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/220906" ref="tree=MeSH" title="MedGen record for X-linked severe combined immunodeficiency">X-linked severe combined immunodeficiency</a></span></li></ul></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><li><span class="TLline"><a href="/medgen/482631" ref="tree=MeSH" title="MedGen record for Wiskott-Aldrich syndrome 2">Wiskott-Aldrich syndrome 2</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_124417"><div><strong>Reticular dysgenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124417</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.">C0272167</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reticular dysgenesis, the most severe form of inborn severe combined immunodeficiency (SCID), is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth (summary by Pannicke et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124417">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_220906"><div><strong>X-linked severe combined immunodeficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220906</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1279481</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of X-linked severe combined immunodeficiency (X-SCID) ranges from typical X-SCID (early-onset disease in males that is fatal if not treated with hematopoietic stem cell transplantation [HSCT] or gene therapy) to atypical X-SCID (later-onset disease comprising phenotypes caused by variable immunodeficiency, immune dysregulation, and/or autoimmunity). Typical X-SCID. Prior to universal newborn screening (NBS) for SCID most males with typical X-SCID came to medical attention between ages three and six months because of recurrent infections, persistent infections, and infections with opportunistic organisms. With universal NBS for SCID, the common presentation for typical X-SCID is now an asymptomatic, healthy-appearing male infant. Atypical X-SCID, which usually is not detected by NBS, can manifest in the first years of life or later with one of the following: recurrent upper and lower respiratory tract infections with bronchiectasis; Omenn syndrome, a clinical phenotype caused by immune dysregulation; X-SCID combined immunodeficiency (often with recurrent infections, warts, and dermatitis); immune dysregulation and autoimmunity; or Epstein-Barr virus-related lymphoproliferative complications.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220906">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375009"><div><strong>Spondyloenchondrodysplasia with immune dysregulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375009</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.">C1842763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375009">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338026"><div><strong>Mosaic variegated aneuploidy syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338026</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.">C1850343</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism. Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.\n\nThere are at least three types of MVA syndrome, each with a different genetic cause. Type 1 is the most common and displays the classic signs and symptoms described above. Type 2 appears to have slightly different signs and symptoms than type 1, although the small number of affected individuals makes it difficult to define its characteristic features. Individuals with MVA syndrome type 2 grow slowly before and after birth; however, their head size is typically normal. Some people with MVA syndrome type 2 have unusually short arms. Individuals with MVA syndrome type 2 do not seem to have an increased risk of cancer. Another form of MVA syndrome is characterized by a high risk of developing Wilms tumor. Individuals with this form may also have other signs and symptoms typical of MVA syndrome type 1.\n\nIn MVA syndrome, growth before birth is slow (intrauterine growth restriction). After birth, affected individuals continue to grow at a slow rate and are shorter than average. In addition, they typically have an unusually small head size (microcephaly). Another common feature of MVA syndrome is an increased risk of developing cancer in childhood. Cancers that occur most frequently in affected individuals include a cancer of muscle tissue called rhabdomyosarcoma, a form of kidney cancer known as Wilms tumor, and a cancer of the blood-forming tissue known as leukemia.\n\nLess commonly, people with MVA syndrome have eye abnormalities or distinctive facial features, such as a broad nasal bridge and low-set ears. Some affected individuals have brain abnormalities, the most common of which is called Dandy-Walker malformation. Intellectual disability, seizures, and other health problems can also occur in people with MVA syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338026">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_435945"><div><strong>Combined immunodeficiency with skin granulomas</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435945</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.">C2673536</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/435945">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461704"><div><strong>Immunodeficiency, common variable, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461704</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.">C3150354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461704">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462088"><div><strong>Immunodeficiency, common variable, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462088</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.">C3150738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462088">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462089"><div><strong>Immunodeficiency, common variable, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462089</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.">C3150739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462089">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462090"><div><strong>Immunodeficiency, common variable, 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462090</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.">C3150740</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462090">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816321"><div><strong>Immunodeficiency, common variable, 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816321</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.">C3809991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Common variable immunodeficiency-10 (CVID10) is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816321">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905078"><div><strong>Pancytopenia due to IKZF1 mutations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905078</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.">C4225173</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Common variable immunodeficiency-13 (CVID13) is an autosomal dominant primary immunodeficiency disorder characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells. The age at onset of clinical features can range from infancy to adulthood, and some patients may have a mild disorder or even remain clinically asymptomatic (summary by Kuehn et al., 2016). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905078">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_906018"><div><strong>Immunodeficiency, common variable, 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906018</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.">C4225277</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Common variable immunodeficiency-12 with autoimmunity (CVID12) is an autosomal dominant complex immunologic disorder with multisystem involvement. CVID12 is mainly a primary immunodeficiency characterized by recurrent infections and associated with hypogammaglobulinemia. Notably, about half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly. A smaller percentage of affected individuals (less than 20%) develop cancer, most commonly solid tumors, including lymphoma. Age at onset and disease severity are highly variable, even within the same family. There is also incomplete penetrance, such that mutation carriers may be asymptomatic, even if they have hypogammaglobulinemia. The gene involved, NFKB1, encodes a transcription factor that regulates the expression of target genes involved in the immune system, thus defining the phenotype as a disorder of immune dysregulation (summary by Fliegauf et al., 2015; Lorenzini et al., 2020). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/906018">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_901370"><div><strong>DOCK2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>901370</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.">C4225328</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-40 is an autosomal recessive primary form of combined immunodeficiency mainly affecting T-cell number and function, with other more variable defects in B-cell and NK-cell function. Patients have onset of severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation (summary by Dobbs et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/901370">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1614928"><div><strong>Immunodeficiency, common variable, 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1614928</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.">C4540380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1614928">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1859911"><div><strong>Immunodeficiency 119</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1859911</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.">C5935621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-119 (IMD119) is an autosomal recessive immunologic disorder characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. Laboratory studies show hypogammaglobulinemia, lymphopenia, reduced memory B cells, and neutropenia, resulting in altered adaptive immunity (Roussel et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1859911">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_435945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency with skin granulomas</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_901370" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DOCK2 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1859911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 119</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816321" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency, common variable, 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_906018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency, common variable, 12</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (15)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1614928" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency, common variable, 14</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency, common variable, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462088" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency, common variable, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462089" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency, common variable, 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462090" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency, common variable, 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338026" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mosaic variegated aneuploidy syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancytopenia due to IKZF1 mutations</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124417" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reticular dysgenesis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloenchondrodysplasia with immune dysregulation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_220906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked severe combined immunodeficiency</a></div></span></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/37352884">Newborn screening for severe combined immunodeficiency: changing the landscape of post-transplantation survival.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barzaghi F,
|
||
Aiuti A</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2023 Jul 8;402(10396):84-85.
|
||
Epub 2023 Jun 20
|
||
doi: 10.1016/S0140-6736(23)01057-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37352884" target="_blank">37352884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36456361">The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Dvorak CC,
|
||
Haddad E,
|
||
Heimall J,
|
||
Dunn E,
|
||
Buckley RH,
|
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Kohn DB,
|
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Cowan MJ,
|
||
Pai SY,
|
||
Griffith LM,
|
||
Cuvelier GDE,
|
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Eissa H,
|
||
Shah AJ,
|
||
O'Reilly RJ,
|
||
Pulsipher MA,
|
||
Wright NAM,
|
||
Abraham RS,
|
||
Satter LF,
|
||
Notarangelo LD,
|
||
Puck JM</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2023 Feb;151(2):539-546.
|
||
Epub 2022 Nov 28
|
||
doi: 10.1016/j.jaci.2022.10.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36456361" target="_blank">36456361</a><a href="/pmc/articles/PMC9905311" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29255099">Newborn screening for severe combined immunodeficiency: a primer for clinicians.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biggs CM,
|
||
Haddad E,
|
||
Issekutz TB,
|
||
Roifman CM,
|
||
Turvey SE</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2017 Dec 18;189(50):E1551-E1557.
|
||
doi: 10.1503/cmaj.170561.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29255099" target="_blank">29255099</a><a href="/pmc/articles/PMC5738248" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22combined%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 (355)</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/38287514">Severe combined immunodeficiency diagnosis and genetic defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aranda CS,
|
||
Gouveia-Pereira MP,
|
||
da Silva CJM,
|
||
Rizzo MCFV,
|
||
Ishizuka E,
|
||
de Oliveira EB,
|
||
Condino-Neto A</span><br />
|
||
<span class="medgenPMjournal">Immunol Rev</span>
|
||
2024 Mar;322(1):138-147.
|
||
Epub 2024 Jan 29
|
||
doi: 10.1111/imr.13310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38287514" target="_blank">38287514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33511666">Diagnosing Omenn syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cutts L,
|
||
Bakshi A,
|
||
Walsh M,
|
||
Parslew R,
|
||
Eustace K</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2021 Mar;38(2):541-543.
|
||
Epub 2021 Jan 29
|
||
doi: 10.1111/pde.14401.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33511666" target="_blank">33511666</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31261087">Primary Immunodeficiency in the NICU.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Connell AE</span><br />
|
||
<span class="medgenPMjournal">Neoreviews</span>
|
||
2019 Feb;20(2):e67-e78.
|
||
doi: 10.1542/neo.20-2-e67.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31261087" target="_blank">31261087</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26235889">Severe combined immunodeficiency--an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cirillo E,
|
||
Giardino G,
|
||
Gallo V,
|
||
D'Assante R,
|
||
Grasso F,
|
||
Romano R,
|
||
Di Lillo C,
|
||
Galasso G,
|
||
Pignata C</span><br />
|
||
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
2015 Nov;1356:90-106.
|
||
Epub 2015 Jul 31
|
||
doi: 10.1111/nyas.12849.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26235889" target="_blank">26235889</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1911929">Lymphocyte gene therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Culver KW,
|
||
Anderson WF,
|
||
Blaese RM</span><br />
|
||
<span class="medgenPMjournal">Hum Gene Ther</span>
|
||
1991 Summer;2(2):107-9.
|
||
doi: 10.1089/hum.1991.2.2-107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1911929" target="_blank">1911929</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%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 (1335)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38287514">Severe combined immunodeficiency diagnosis and genetic defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aranda CS,
|
||
Gouveia-Pereira MP,
|
||
da Silva CJM,
|
||
Rizzo MCFV,
|
||
Ishizuka E,
|
||
de Oliveira EB,
|
||
Condino-Neto A</span><br />
|
||
<span class="medgenPMjournal">Immunol Rev</span>
|
||
2024 Mar;322(1):138-147.
|
||
Epub 2024 Jan 29
|
||
doi: 10.1111/imr.13310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38287514" target="_blank">38287514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36456361">The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dvorak CC,
|
||
Haddad E,
|
||
Heimall J,
|
||
Dunn E,
|
||
Buckley RH,
|
||
Kohn DB,
|
||
Cowan MJ,
|
||
Pai SY,
|
||
Griffith LM,
|
||
Cuvelier GDE,
|
||
Eissa H,
|
||
Shah AJ,
|
||
O'Reilly RJ,
|
||
Pulsipher MA,
|
||
Wright NAM,
|
||
Abraham RS,
|
||
Satter LF,
|
||
Notarangelo LD,
|
||
Puck JM</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2023 Feb;151(2):539-546.
|
||
Epub 2022 Nov 28
|
||
doi: 10.1016/j.jaci.2022.10.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36456361" target="_blank">36456361</a><a href="/pmc/articles/PMC9905311" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29690908">Adenosine deaminase deficiency: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flinn AM,
|
||
Gennery AR</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2018 Apr 24;13(1):65.
|
||
doi: 10.1186/s13023-018-0807-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29690908" target="_blank">29690908</a><a href="/pmc/articles/PMC5916829" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11159300">Severe combined immunodeficiency--molecular pathogenesis and diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaspar HB,
|
||
Gilmour KC,
|
||
Jones AM</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2001 Feb;84(2):169-73.
|
||
doi: 10.1136/adc.84.2.169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11159300" target="_blank">11159300</a><a href="/pmc/articles/PMC1718644" 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 />
|
||
<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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%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 (1785)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36546626">Lentiviral Gene Therapy for Artemis-Deficient SCID.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cowan MJ,
|
||
Yu J,
|
||
Facchino J,
|
||
Fraser-Browne C,
|
||
Sanford U,
|
||
Kawahara M,
|
||
Dara J,
|
||
Long-Boyle J,
|
||
Oh J,
|
||
Chan W,
|
||
Chag S,
|
||
Broderick L,
|
||
Chellapandian D,
|
||
Decaluwe H,
|
||
Golski C,
|
||
Hu D,
|
||
Kuo CY,
|
||
Miller HK,
|
||
Petrovic A,
|
||
Currier R,
|
||
Hilton JF,
|
||
Punwani D,
|
||
Dvorak CC,
|
||
Malech HL,
|
||
McIvor RS,
|
||
Puck JM</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2022 Dec 22;387(25):2344-2355.
|
||
doi: 10.1056/NEJMoa2206575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36546626" target="_blank">36546626</a><a href="/pmc/articles/PMC9884487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31297531">Gene therapy for primary immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Booth C,
|
||
Romano R,
|
||
Roncarolo MG,
|
||
Thrasher AJ</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2019 Oct 1;28(R1):R15-R23.
|
||
doi: 10.1093/hmg/ddz170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31297531" target="_blank">31297531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28895850">Gene Therapy Approaches to Immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghosh S,
|
||
Gaspar HB</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
2017 Oct;31(5):823-834.
|
||
Epub 2017 Jun 29
|
||
doi: 10.1016/j.hoc.2017.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28895850" target="_blank">28895850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8939644">T-cell gene therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hege KM,
|
||
Roberts MR</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Biotechnol</span>
|
||
1996 Dec;7(6):629-34.
|
||
doi: 10.1016/s0958-1669(96)80074-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8939644" target="_blank">8939644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1911929">Lymphocyte gene therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Culver KW,
|
||
Anderson WF,
|
||
Blaese RM</span><br />
|
||
<span class="medgenPMjournal">Hum Gene Ther</span>
|
||
1991 Summer;2(2):107-9.
|
||
doi: 10.1089/hum.1991.2.2-107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1911929" target="_blank">1911929</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%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 (1471)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38287514">Severe combined immunodeficiency diagnosis and genetic defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aranda CS,
|
||
Gouveia-Pereira MP,
|
||
da Silva CJM,
|
||
Rizzo MCFV,
|
||
Ishizuka E,
|
||
de Oliveira EB,
|
||
Condino-Neto A</span><br />
|
||
<span class="medgenPMjournal">Immunol Rev</span>
|
||
2024 Mar;322(1):138-147.
|
||
Epub 2024 Jan 29
|
||
doi: 10.1111/imr.13310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38287514" target="_blank">38287514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35447312">Spontaneous resolution of severe idiopathic T cell lymphopenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Habiballah SB,
|
||
Whangbo JS,
|
||
Cardona ID,
|
||
Platt CD</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2022 May;238:109014.
|
||
Epub 2022 Apr 18
|
||
doi: 10.1016/j.clim.2022.109014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35447312" target="_blank">35447312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35081554">Polyarteritis nodosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bilginer Y,
|
||
Ozen S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2022 Apr 1;34(2):229-233.
|
||
doi: 10.1097/MOP.0000000000001106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35081554" target="_blank">35081554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26735698">Genomics of Immune Diseases and New Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lenardo M,
|
||
Lo B,
|
||
Lucas CL</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Immunol</span>
|
||
2016 May 20;34:121-49.
|
||
Epub 2015 Dec 23
|
||
doi: 10.1146/annurev-immunol-041015-055620.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26735698" target="_blank">26735698</a><a href="/pmc/articles/PMC5736009" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11213798">Gene therapy of severe combined immunodeficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fischer A,
|
||
Hacein-Bey S,
|
||
Le Deist F,
|
||
Soudais C,
|
||
Di Santo JP,
|
||
de Saint Basile G,
|
||
Cavazzana-Calvo M</span><br />
|
||
<span class="medgenPMjournal">Immunol Rev</span>
|
||
2000 Dec;178:13-20.
|
||
doi: 10.1034/j.1600-065x.2000.17806.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11213798" target="_blank">11213798</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%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 (843)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38088159">Successful management of delayed-onset adenosine deaminase deficiency with novel mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Çelik FÇ,
|
||
Soyöz Ö,
|
||
Bölük SÖ,
|
||
Taşkırdı İ,
|
||
Hacı İA,
|
||
Kaya MŞ,
|
||
Demir A,
|
||
Uzunoğlu B,
|
||
Yıldırım AT,
|
||
Onay H,
|
||
Gözmen S,
|
||
Gülez N,
|
||
Genel F</span><br />
|
||
<span class="medgenPMjournal">Per Med</span>
|
||
2024 Jan;21(1):11-19.
|
||
Epub 2023 Dec 13
|
||
doi: 10.2217/pme-2023-0111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38088159" target="_blank">38088159</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31826240">Gene therapy for severe combined immunodeficiencies and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fischer A,
|
||
Hacein-Bey-Abina S</span><br />
|
||
<span class="medgenPMjournal">J Exp Med</span>
|
||
2020 Jan 6;217(2)
|
||
doi: 10.1084/jem.20190607.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31826240" target="_blank">31826240</a><a href="/pmc/articles/PMC7041706" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26182690">Common Variable Immunodeficiency or Late-Onset Combined Immunodeficiency: A New Hypomorphic JAK3 Patient and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abolhassani H,
|
||
Cheraghi T,
|
||
Rezaei N,
|
||
Aghamohammadi A,
|
||
Hammarström L</span><br />
|
||
<span class="medgenPMjournal">J Investig Allergol Clin Immunol</span>
|
||
2015;25(3):218-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26182690" target="_blank">26182690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23583799">Gene therapy of primary T cell immunodeficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fischer A,
|
||
Hacein-Bey-Abina S,
|
||
Cavazzana-Calvo M</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2013 Aug 10;525(2):170-3.
|
||
Epub 2013 Apr 10
|
||
doi: 10.1016/j.gene.2013.03.092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23583799" target="_blank">23583799</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14104316">HISTIOCYTOSIS X (EOSINOPHILIC GRANULOMA OF BONE, LETTERER-SIWE DISEASE, AND SCHUELLER-CHRISTIAN DISEASE). FURTHER OBSERVATIONS OF PATHOLOGICAL AND CLINICAL IMPORTANCE.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LICHTENSTEIN L</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
1964 Jan;46:76-90.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14104316" target="_blank">14104316</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%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 (1191)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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/32006723">Primary Immunodeficiency Diseases and Bacillus Calmette-Guérin (BCG)-Vaccine-Derived Complications: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fekrvand S,
|
||
Yazdani R,
|
||
Olbrich P,
|
||
Gennery A,
|
||
Rosenzweig SD,
|
||
Condino-Neto A,
|
||
Azizi G,
|
||
Rafiemanesh H,
|
||
Hassanpour G,
|
||
Rezaei N,
|
||
Abolhassani H,
|
||
Aghamohammadi A</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2020 Apr;8(4):1371-1386.
|
||
Epub 2020 Jan 30
|
||
doi: 10.1016/j.jaip.2020.01.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32006723" target="_blank">32006723</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28359806">Causes of low neonatal T-cell receptor excision circles: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mauracher AA,
|
||
Pagliarulo F,
|
||
Faes L,
|
||
Vavassori S,
|
||
Güngör T,
|
||
Bachmann LM,
|
||
Pachlopnik Schmid J</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2017 Sep-Oct;5(5):1457-1460.e22.
|
||
Epub 2017 Mar 27
|
||
doi: 10.1016/j.jaip.2017.02.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28359806" target="_blank">28359806</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 class="nl"><a target="_blank" href="/pubmed/20403930">Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lipstein EA,
|
||
Vorono S,
|
||
Browning MF,
|
||
Green NS,
|
||
Kemper AR,
|
||
Knapp AA,
|
||
Prosser LA,
|
||
Perrin JM</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2010 May;125(5):e1226-35.
|
||
Epub 2010 Apr 19
|
||
doi: 10.1542/peds.2009-1567.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20403930" target="_blank">20403930</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%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 (17)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
<div class=" bottom">
|
||
|
||
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|
||
|
||
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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
||
|
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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=C2711630%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2711630%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C2711630%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C2711630%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2711630%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=101972" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Combined%20immunodeficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22combined%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Combined%20immunodeficiency%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
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<a href="/pubmed?term=Combined%20immunodeficiency%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2711630[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2711630[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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