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<!--
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||
UID=866853
|
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ConceptID=C4021208
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal B cell count</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866853</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.">C4021208</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormality of B cell number</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:0010975">HP:0010975</a></td></tr>
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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 deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. [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 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">Abnormal B cell count</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867388" ref="tree=MeSH" title="MedGen record for Abnormality of the immune system">Abnormality of the immune system</a></span><ul><li><span class="TLline"><a href="/medgen/1702861" ref="tree=MeSH" title="MedGen record for Abnormal immune system morphology">Abnormal immune system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869190" ref="tree=MeSH" title="MedGen record for Abnormal cellular immune system morphology">Abnormal cellular immune system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/508852" ref="tree=MeSH" title="MedGen record for Abnormal leukocyte morphology">Abnormal leukocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/488926" ref="tree=MeSH" title="MedGen record for Abnormal leukocyte count">Abnormal leukocyte count</a></span><ul><li><span class="TLline"><a href="/medgen/663425" ref="tree=MeSH" title="MedGen record for Abnormal lymphocyte count">Abnormal lymphocyte count</a></span><ul><li><span class="matched_ds">Abnormal B cell count</span><ul><li><span class="TLline"><a href="/medgen/1371752" ref="tree=MeSH" title="MedGen record for Abnormal B cell subset distribution">Abnormal B cell subset distribution</a></span><ul><li><span class="TLline"><a href="/medgen/1697630" ref="tree=MeSH" title="MedGen record for Abnormal plasmablast proportion">Abnormal plasmablast proportion</a></span><ul><li><span class="TLline"><a href="/medgen/1697852" ref="tree=MeSH" title="MedGen record for Decreased proportion of plasmablasts">Decreased proportion of plasmablasts</a></span></li><li><span class="TLline"><a href="/medgen/1693971" ref="tree=MeSH" title="MedGen record for Increased proportion of plasmablasts">Increased proportion of plasmablasts</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/893036" ref="tree=MeSH" title="MedGen record for Abnormal proportion of immature B cells">Abnormal proportion of immature B cells</a></span><ul><li><span class="TLline"><a href="/medgen/892741" ref="tree=MeSH" title="MedGen record for Decreased proportion of immature B cells">Decreased proportion of immature B cells</a></span></li><li><span class="TLline"><a href="/medgen/892989" ref="tree=MeSH" title="MedGen record for Increased proportion of immature B cells">Increased proportion of immature B cells</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/893043" ref="tree=MeSH" title="MedGen record for Abnormal proportion of memory B cells">Abnormal proportion of memory B cells</a></span><ul><li><span class="TLline"><a href="/medgen/892550" ref="tree=MeSH" title="MedGen record for Abnormal proportion of class-switched memory B cells">Abnormal proportion of class-switched memory B cells</a></span></li><li><span class="TLline"><a href="/medgen/892606" ref="tree=MeSH" title="MedGen record for Abnormal proportion of marginal zone B cells">Abnormal proportion of marginal zone B cells</a></span></li><li><span class="TLline"><a href="/medgen/1706389" ref="tree=MeSH" title="MedGen record for Abnormal proportion of unswitched memory B cells">Abnormal proportion of unswitched memory B cells</a></span></li><li><span class="TLline"><a href="/medgen/893145" ref="tree=MeSH" title="MedGen record for Decreased proportion of memory B cells">Decreased proportion of memory B cells</a></span></li><li><span class="TLline"><a href="/medgen/893115" ref="tree=MeSH" title="MedGen record for Increased proportion of memory B cells">Increased proportion of memory B cells</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/893042" ref="tree=MeSH" title="MedGen record for Abnormal proportion of naive B cells">Abnormal proportion of naive B cells</a></span><ul><li><span class="TLline"><a href="/medgen/892943" ref="tree=MeSH" title="MedGen record for Decreased proportion of naive B cells">Decreased proportion of naive B cells</a></span></li><li><span class="TLline"><a href="/medgen/892667" ref="tree=MeSH" title="MedGen record for Increased proportion of naive B cells">Increased proportion of naive B cells</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892859" ref="tree=MeSH" title="MedGen record for Abnormal proportion of transitional B cells">Abnormal proportion of transitional B cells</a></span><ul><li><span class="TLline"><a href="/medgen/892796" ref="tree=MeSH" title="MedGen record for Decreased proportion of transitional B cells">Decreased proportion of transitional B cells</a></span></li><li><span class="TLline"><a href="/medgen/892766" ref="tree=MeSH" title="MedGen record for Increased proportion of transitional B cells">Increased proportion of transitional B cells</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1772613" ref="tree=MeSH" title="MedGen record for Increased proportion autoreactive unresponsive CD21-/low B cells">Increased proportion autoreactive unresponsive CD21-/low B cells</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/340780" ref="tree=MeSH" title="MedGen record for B lymphocytopenia">B lymphocytopenia</a></span><ul><li><span class="TLline"><a href="/medgen/868167" ref="tree=MeSH" title="MedGen record for Absence of memory B cells">Absence of memory B cells</a></span></li><li><span class="TLline"><a href="/medgen/868166" ref="tree=MeSH" title="MedGen record for Absent circulating B cells">Absent circulating B cells</a></span></li><li><span class="TLline"><a href="/medgen/350238" ref="tree=MeSH" title="MedGen record for Severe B lymphocytopenia">Severe B lymphocytopenia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_439"><div><strong>Ataxia-telangiectasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>439</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:">C0004135</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 ataxia-telangiectasia (A-T), a multisystem disorder, is a continuum ranging from classic A-T at the severe end and variant A-T at the milder end. Nonetheless, distinguishing between classic A-T and variant A-T on this spectrum helps understand differences in disease course, rate of progression, and life expectancy. Classic A-T is characterized by childhood onset of progressive neurologic manifestations (initially cerebellar ataxia, followed typically by extrapyramidal involvement and peripheral sensorimotor neuropathy), immunodeficiency (variably associated with abnormalities of humoral immunity, cellular immunity, or combined immune deficiency), pulmonary disease (resulting from recurrent infections, immune deficiency, aspiration, interstitial lung disease, and neurologic abnormalities), and increased risk of malignancy. Although it is generally accepted that intellectual disability is not common in A-T, disturbances in cerebellar as well as non-cerebellar brain areas and networks may result in cognitive deficits. Increased sensitivity to ionizing radiation (x-ray and gamma ray) can result in severe side effects from such treatments. Life expectancy is significantly reduced due to cancer, pulmonary disease, and infections. Variant A-T has a significantly milder disease course. While cerebellar ataxia can be absent, extrapyramidal movement disorders are common (typically dystonia and dystonic tremor) and most individuals have manifestations of axonal sensorimotor polyneuropathy. In contrast to classic A-T, immune function is generally normal, respiratory infections are not increased, and pulmonary disease is not a major feature. However, risk of developing malignancies is increased, particularly in premenopausal females who have an increased risk of developing breast cancer and hematologic malignancies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/439">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.">C1279481</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>
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<div class="divPopper rprt" id="rdis_375137"><div><strong>Immunodeficiency 67</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375137</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.">C1843256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Immunodeficiency-67 (IMD67) is an autosomal recessive primary immunodeficiency characterized by recurrent severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae and Staphylococcus aureus; Pseudomonas and atypical Mycobacteria may also be observed. IMD67 is life-threatening in infancy and early childhood. The first invasive infection typically occurs before 2 years of age, with meningitis representing up to 41% of the bacterial infections. The mortality rate in early childhood is high, with most deaths occurring before 8 years of age. Affected individuals have an impaired inflammatory response to infection, including lack of fever and neutropenia, although erythrocyte sedimentation rate (ESR) and C-reactive protein may be elevated. General immunologic workup tends to be normal, with normal levels of B cells, T cells, and NK cells. However, more detailed studies indicate impaired cytokine response to lipopolysaccharide (LPS) and IL1B (147720) stimulation; response to TNFA (191160) is usually normal. Patients have good antibody responses to most vaccinations, with the notable exception of pneumococcal vaccination. Viral, fungal, and parasitic infections are not generally observed. Early detection is critical in early childhood because prophylactic treatment with IVIg or certain antibiotics is effective; the disorder tends to improve naturally around adolescence. At the molecular level, the disorder results from impaired function of selective Toll receptor (see TLR4, 603030)/IL1R (see IL1R1, 147810) signaling pathways that ultimately activate NFKB (164011) to produce cytokines (summary by Ku et al., 2007; Picard et al., 2010; Grazioli et al., 2016). See also IMD68 (612260), caused by mutation in the MYD88 gene (602170), which shows a similar phenotype to IMD67. As the MYD88 and IRAK4 genes interact in the same intracellular signaling pathway, the clinical and cellular features are almost indistinguishable (summary by Picard et al., 2010).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/375137">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347128"><div><strong>Predisposition to invasive fungal disease due to CARD9 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347128</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.">C1859353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A rare genetic primary immunodeficiency with characteristics of increased susceptibility to fungal infections that typically manifest as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis and deep dermatophytosis. Dermatophytes invade skin, hair, nails, lymph nodes and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis and lymphadenopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347128">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_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_462091"><div><strong>Immunodeficiency, common variable, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462091</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.">C3150741</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 CD81 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462091">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816457"><div><strong>Immunodeficiency 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816457</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.">C3810127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by de Saint Basile et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816457">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1384124"><div><strong>Severe combined immunodeficiency due to LAT deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1384124</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.">C4479588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1384124">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1770239"><div><strong>X-linked lymphoproliferative disease due to SH2D1A deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1770239</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.">C5399825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked lymphoproliferative disease (XLP) in general is characterized by an inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis, dysgammaglobulinemia, and lymphoproliferative disease (malignant lymphoma). The condition primarily affects males. XLP has two recognizable subtypes, XLP1 (due to pathogenic variants in SH2D1A) and XLP2 (due to pathogenic variants in XIAP). HLH / fulminant infectious mononucleosis is the most common presentation regardless of subtype. HLH is characterized as an acute illness with prolonged and high fever, bi- or trilineage cytopenias, and hepatosplenomegaly, which is often severe or fatal. Death is generally secondary to liver failure or multisystem organ dysfunction. In those with XLP1, dys- or hypogammaglobulinemia can lead to varying degrees of humoral immune dysfunction associated with bronchiectasis and recurrent respiratory infections that, if untreated, may result in death. Lymphoproliferative disease (malignant lymphoma) and other lymphoproliferative diseases are specific to XLP1 and often develop in childhood, usually following EBV exposure. Rarer findings in those with XLP1 can include aplastic anemia, vasculitis, and lymphoid granulomatosis. Males with XLP2 are more likely to have HLH without EBV infection, recurrent episodes of HLH (which is not typically seen in those with XLP1), splenomegaly, and gastrointestinal disease, including enterocolitis and perirectal abscesses or fistulae. Rarely, individuals with XLP2 and inflammatory bowel disease have been reported to develop inflammatory liver disease, which can progress to fatal liver failure. Transient hypogammaglobulinemia has been rarely observed in those with XLP2. To date, neither lymphoproliferative disease nor common variable immunodeficiency has been reported in males with XLP2. Heterozygous females rarely have symptoms. There are, however, increasing numbers of reports of affected females with unfavorable (skewed) X-chromosome inactivation favoring the X chromosome with the pathogenic variant who develop HLH, inflammatory bowel disease, and erythema nodosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1770239">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1809040"><div><strong>Combined immunodeficiency due to ZAP70 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809040</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.">C5575025</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ZAP70-related combined immunodeficiency (ZAP70-related CID) is a cell-mediated immunodeficiency caused by abnormal T-cell receptor (TCR) signaling. Affected children usually present in the first year of life with recurrent bacterial, viral, and opportunistic infections, diarrhea, and failure to thrive. Severe lower-respiratory infections and oral candidiasis are common. Affected children usually do not survive past their second year without hematopoietic stem cell transplantation (HSCT).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1809040">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841236"><div><strong>Autoimmune disease, multisystem, infantile-onset, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841236</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.">C5830600</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile-onset multisystem autoimmune disease-3 (ADMIO3) is an autosomal recessive disorder of immune dysregulation characterized by the onset of various systemic autoimmune manifestations in the first months or years of life. Features may include hypothyroidism, type 1 diabetes mellitus, systemic inflammatory manifestations (fever, hepatomegaly), and autoimmune cytopenias. Laboratory studies show normal levels of T, B, and NK cells, but CD4+ (see 186940) T cells demonstrate hyperproliferation when stimulated in vitro (Janssen et al., 2022). For a discussion of genetic heterogeneity of ADMIO, see ADMIO1 (615952).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841236">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1860800"><div><strong>Immunodeficiency 122</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1860800</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.">C5935632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-122 (IMD122) is an autosomal recessive inborn error of immunity characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin. Laboratory studies show severely decreased CD3+ T cells particularly affecting naive T cells, impaired early TCR recombination with a restricted TCR repertoire, normal or low-normal B cells, and decreased or increased NK cells. Affected individuals have poor overall growth, global developmental delay with poor motor skills, impaired intellectual development, and poor or absent speech acquisition. More variable findings may include diffuse skin rash, erythroderma, sensorineural hearing loss, lymphadenopathy, dysmorphic facial features, and tooth abnormalities. Death in early childhood may occur (Mehawej et al., 2023; Riestra et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1860800">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia-telangiectasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841236" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune disease, multisystem, infantile-onset, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency due to ZAP70 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1860800" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 122</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816457" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 18</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 67</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_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_462091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency, common variable, 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Predisposition to invasive fungal disease due to CARD9 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1384124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe combined immunodeficiency due to LAT deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1770239" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked lymphoproliferative disease due to SH2D1A deficiency</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/35737255">Protein-losing Enteropathy as a Complication and/or Differential Diagnosis of Common Variable Immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanges S,
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Germain N,
|
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Vignes S,
|
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Séguy D,
|
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Stabler S,
|
||
Etienne N,
|
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Terriou L,
|
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Launay D,
|
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Hachulla É,
|
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Huglo D,
|
||
Dubucquoi S,
|
||
Labalette M,
|
||
Lefèvre G</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2022 Oct;42(7):1461-1472.
|
||
Epub 2022 Jun 23
|
||
doi: 10.1007/s10875-022-01299-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35737255" target="_blank">35737255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33316076">Abnormal eosinophil count at CLL diagnosis correlates with shorter treatment free survival.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Egholm GJ,
|
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Andersen MA,
|
||
Andersen CL,
|
||
Frederiksen H,
|
||
Bjerrum OW,
|
||
Niemann CU</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2021 Feb;192(3):e81-e84.
|
||
Epub 2020 Dec 14
|
||
doi: 10.1111/bjh.17264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33316076" target="_blank">33316076</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28782884">Chronic lymphocytic leukemia: 2017 update on diagnosis, risk stratification, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hallek M</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2017 Sep;92(9):946-965.
|
||
doi: 10.1002/ajh.24826.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28782884" target="_blank">28782884</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20b%20cell%20count)%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 (25)</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/35924244">Secondary Immune Deficiency and Primary Immune Deficiency Crossovers: Hematological Malignancies and Autoimmune Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ballow M,
|
||
Sánchez-Ramón S,
|
||
Walter JE</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:928062.
|
||
Epub 2022 Jul 18
|
||
doi: 10.3389/fimmu.2022.928062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35924244" target="_blank">35924244</a><a href="/pmc/articles/PMC9340211" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35671390">The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li P,
|
||
Brown S,
|
||
Williams M,
|
||
White T,
|
||
Xie W,
|
||
Cui W,
|
||
Peker D,
|
||
Lei L,
|
||
Kunder CA,
|
||
Wang HY,
|
||
Murray SS,
|
||
Vagher J,
|
||
Kovacsovics T,
|
||
Patel JL</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2022 Aug 18;140(7):716-755.
|
||
doi: 10.1182/blood.2021015135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35671390" target="_blank">35671390</a><a href="/pmc/articles/PMC9389629" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28665419">Acute lymphoblastic leukemia: a comprehensive review and 2017 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Terwilliger T,
|
||
Abdul-Hay M</span><br />
|
||
<span class="medgenPMjournal">Blood Cancer J</span>
|
||
2017 Jun 30;7(6):e577.
|
||
doi: 10.1038/bcj.2017.53.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28665419" target="_blank">28665419</a><a href="/pmc/articles/PMC5520400" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23380746">Unexplained macrocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Younes M,
|
||
Dagher GA,
|
||
Dulanto JV,
|
||
Njeim M,
|
||
Kuriakose P</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
2013 Feb;106(2):121-5.
|
||
doi: 10.1097/SMJ.0b013e3182824cdf.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23380746" target="_blank">23380746</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11136261">Genomic aberrations and survival in chronic lymphocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Döhner H,
|
||
Stilgenbauer S,
|
||
Benner A,
|
||
Leupolt E,
|
||
Kröber A,
|
||
Bullinger L,
|
||
Döhner K,
|
||
Bentz M,
|
||
Lichter P</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2000 Dec 28;343(26):1910-6.
|
||
doi: 10.1056/NEJM200012283432602.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11136261" target="_blank">11136261</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20B%20cell%20count%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 (430)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35924244">Secondary Immune Deficiency and Primary Immune Deficiency Crossovers: Hematological Malignancies and Autoimmune Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ballow M,
|
||
Sánchez-Ramón S,
|
||
Walter JE</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:928062.
|
||
Epub 2022 Jul 18
|
||
doi: 10.3389/fimmu.2022.928062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35924244" target="_blank">35924244</a><a href="/pmc/articles/PMC9340211" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35671390">The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li P,
|
||
Brown S,
|
||
Williams M,
|
||
White T,
|
||
Xie W,
|
||
Cui W,
|
||
Peker D,
|
||
Lei L,
|
||
Kunder CA,
|
||
Wang HY,
|
||
Murray SS,
|
||
Vagher J,
|
||
Kovacsovics T,
|
||
Patel JL</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2022 Aug 18;140(7):716-755.
|
||
doi: 10.1182/blood.2021015135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35671390" target="_blank">35671390</a><a href="/pmc/articles/PMC9389629" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29159871">Immunodeficiency in CHARGE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mehr S,
|
||
Hsu P,
|
||
Campbell D</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2017 Dec;175(4):516-523.
|
||
Epub 2017 Nov 21
|
||
doi: 10.1002/ajmg.c.31594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29159871" target="_blank">29159871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26999424">Monoclonal gammopathy-associated pure red cell aplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korde N,
|
||
Zhang Y,
|
||
Loeliger K,
|
||
Poon A,
|
||
Simakova O,
|
||
Zingone A,
|
||
Costello R,
|
||
Childs R,
|
||
Noel P,
|
||
Silver S,
|
||
Kwok M,
|
||
Mo C,
|
||
Young N,
|
||
Landgren O,
|
||
Sloand E,
|
||
Maric I</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2016 Jun;173(6):876-83.
|
||
Epub 2016 Mar 21
|
||
doi: 10.1111/bjh.14012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26999424" target="_blank">26999424</a><a href="/pmc/articles/PMC5549779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25203085">Weakness, fatigue, and an abnormal white blood cell count.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abboud R,
|
||
Sham R</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2014 Sep 10;312(10):1051-2.
|
||
doi: 10.1001/jama.2014.2440.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25203085" target="_blank">25203085</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20B%20cell%20count%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 (382)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36536403">A simple and effective method to purify and activate T cells for successful generation of chimeric antigen receptor T (CAR-T) cells from patients with high monocyte count.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang H,
|
||
Tsao ST,
|
||
Gu M,
|
||
Fu C,
|
||
He F,
|
||
Li X,
|
||
Zhang M,
|
||
Li N,
|
||
Hu HM</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2022 Dec 19;20(1):608.
|
||
doi: 10.1186/s12967-022-03833-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36536403" target="_blank">36536403</a><a href="/pmc/articles/PMC9764707" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26999424">Monoclonal gammopathy-associated pure red cell aplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korde N,
|
||
Zhang Y,
|
||
Loeliger K,
|
||
Poon A,
|
||
Simakova O,
|
||
Zingone A,
|
||
Costello R,
|
||
Childs R,
|
||
Noel P,
|
||
Silver S,
|
||
Kwok M,
|
||
Mo C,
|
||
Young N,
|
||
Landgren O,
|
||
Sloand E,
|
||
Maric I</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2016 Jun;173(6):876-83.
|
||
Epub 2016 Mar 21
|
||
doi: 10.1111/bjh.14012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26999424" target="_blank">26999424</a><a href="/pmc/articles/PMC5549779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20687509">Dyskeratosis congenita.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta V,
|
||
Kumar A</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2010;685:215-9.
|
||
doi: 10.1007/978-1-4419-6448-9_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20687509" target="_blank">20687509</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20008229">Monoclonal B-cell lymphocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rawstron AC</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2009:430-9.
|
||
doi: 10.1182/asheducation-2009.1.430.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20008229" target="_blank">20008229</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18217129">Idiopathic thrombocytopenic purpura: current concepts in pathophysiology and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stasi R,
|
||
Evangelista ML,
|
||
Stipa E,
|
||
Buccisano F,
|
||
Venditti A,
|
||
Amadori S</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
2008 Jan;99(1):4-13.
|
||
doi: 10.1160/TH07-08-0513.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18217129" target="_blank">18217129</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20B%20cell%20count%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 (235)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28665419">Acute lymphoblastic leukemia: a comprehensive review and 2017 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Terwilliger T,
|
||
Abdul-Hay M</span><br />
|
||
<span class="medgenPMjournal">Blood Cancer J</span>
|
||
2017 Jun 30;7(6):e577.
|
||
doi: 10.1038/bcj.2017.53.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28665419" target="_blank">28665419</a><a href="/pmc/articles/PMC5520400" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23380746">Unexplained macrocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Younes M,
|
||
Dagher GA,
|
||
Dulanto JV,
|
||
Njeim M,
|
||
Kuriakose P</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
2013 Feb;106(2):121-5.
|
||
doi: 10.1097/SMJ.0b013e3182824cdf.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23380746" target="_blank">23380746</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22369330">Predicting survival in chronic lymphocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bazargan A,
|
||
Tam CS,
|
||
Keating MJ</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Anticancer Ther</span>
|
||
2012 Mar;12(3):393-403.
|
||
doi: 10.1586/era.12.2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22369330" target="_blank">22369330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20008229">Monoclonal B-cell lymphocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rawstron AC</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2009:430-9.
|
||
doi: 10.1182/asheducation-2009.1.430.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20008229" target="_blank">20008229</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11136261">Genomic aberrations and survival in chronic lymphocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Döhner H,
|
||
Stilgenbauer S,
|
||
Benner A,
|
||
Leupolt E,
|
||
Kröber A,
|
||
Bullinger L,
|
||
Döhner K,
|
||
Bentz M,
|
||
Lichter P</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2000 Dec 28;343(26):1910-6.
|
||
doi: 10.1056/NEJM200012283432602.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11136261" target="_blank">11136261</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20B%20cell%20count%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 (316)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33052516">Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moeini Shad T,
|
||
Yousefi B,
|
||
Amirifar P,
|
||
Delavari S,
|
||
Rae W,
|
||
Kokhaei P,
|
||
Abolhassani H,
|
||
Aghamohammadi A,
|
||
Yazdani R</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2021 Jan;41(1):76-88.
|
||
Epub 2020 Oct 14
|
||
doi: 10.1007/s10875-020-00881-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33052516" target="_blank">33052516</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28212806">Clonal evolution as detected by interphase fluorescence in situ hybridization is associated with worse overall survival in a population-based analysis of patients with chronic lymphocytic leukemia in British Columbia, Canada.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang SJ,
|
||
Bergin K,
|
||
Smith AC,
|
||
Gerrie AS,
|
||
Bruyere H,
|
||
Dalal CB,
|
||
Sugioka DK,
|
||
Hrynchak M,
|
||
Ramadan KM,
|
||
Karsan A,
|
||
Gillan TL,
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||
Toze CL</span><br />
|
||
<span class="medgenPMjournal">Cancer Genet</span>
|
||
2017 Jan;210:1-8.
|
||
Epub 2016 Nov 3
|
||
doi: 10.1016/j.cancergen.2016.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28212806" target="_blank">28212806</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22369330">Predicting survival in chronic lymphocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bazargan A,
|
||
Tam CS,
|
||
Keating MJ</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Anticancer Ther</span>
|
||
2012 Mar;12(3):393-403.
|
||
doi: 10.1586/era.12.2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22369330" target="_blank">22369330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11136261">Genomic aberrations and survival in chronic lymphocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Döhner H,
|
||
Stilgenbauer S,
|
||
Benner A,
|
||
Leupolt E,
|
||
Kröber A,
|
||
Bullinger L,
|
||
Döhner K,
|
||
Bentz M,
|
||
Lichter P</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2000 Dec 28;343(26):1910-6.
|
||
doi: 10.1056/NEJM200012283432602.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11136261" target="_blank">11136261</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4952384">The pathogenesis of chronic lymphocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galton DA</span><br />
|
||
<span class="medgenPMjournal">Can Med Assoc J</span>
|
||
1966 May 7;94(19):1005-10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4952384" target="_blank">4952384</a><a href="/pmc/articles/PMC1936613" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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