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<meta name="keywords" content="C0001768, agammaglobulinaemia, agammaglobulinemia, agammaglobulinemias, antibody deficiency, disease or syndrome, gammaglobulin deficiency, hypogammaglobulinemia, ighm, immunoglobulin deficiency, mu heavy chain deficiency, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=168
|
||
ConceptID=C0001768
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Agammaglobulinemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>168</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.">C0001768</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Agammaglobulinemias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Agammaglobulinemia (119249001)</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:0004432">HP:0004432</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015977" target="_blank">MONDO:0015977</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS601495" target="_blank">PS601495</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=183669">ORPHA183669</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 lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. [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>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0001768[DISCUI]&test_type=Clinical" ref="ncbi_uid=168">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=168" ref="ncbi_uid=168">V</a></span></span><span class="TLline">Agammaglobulinemia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/208860" ref="tree=MeSH" title="MedGen record for Hematopoietic and Lymphatic System Disorder">Hematopoietic and Lymphatic System Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/5483" ref="tree=MeSH" title="MedGen record for Hematologic disorder">Hematologic disorder</a></span><ul><li><span class="TLline"><a href="/medgen/612" ref="tree=MeSH" title="MedGen record for Blood Protein Disorders">Blood Protein Disorders</a></span><ul><li><span class="matched_ds">Agammaglobulinemia</span><ul><li><span class="TLline"><a href="/medgen/978173" ref="tree=MeSH" title="MedGen record for Activated PI3K-delta syndrome">Activated PI3K-delta syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/811535" ref="tree=MeSH" title="MedGen record for Immunodeficiency 14">Immunodeficiency 14</a></span></li><li><span class="TLline"><a href="/medgen/863371" ref="tree=MeSH" title="MedGen record for Immunodeficiency 36">Immunodeficiency 36</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1639972" ref="tree=MeSH" title="MedGen record for Isolated agammaglobulinemia">Isolated agammaglobulinemia</a></span><ul><li><span class="TLline"><a href="/medgen/316941" ref="tree=MeSH" title="MedGen record for Autosomal agammaglobulinemia">Autosomal agammaglobulinemia</a></span></li><li><span class="TLline"><a href="/medgen/65123" ref="tree=MeSH" title="MedGen record for X-linked agammaglobulinemia">X-linked agammaglobulinemia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=18306&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Agammaglobulinemia</span> in Orphanet.</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_65123"><div><strong>X-linked agammaglobulinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65123</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.">C0221026</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately 60% of individuals with XLA are recognized as having immunodeficiency when they develop a severe, life-threatening infection such as pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis. S pneumoniae and H influenzae are the most common organisms found prior to diagnosis and may continue to cause sinusitis and otitis after diagnosis and the initiation of gammaglobulin substitution therapy. Severe, difficult-to-treat enteroviral infections (often manifesting as dermatomyositis or chronic meningoencephalitis) can be prevented by this treatment. The prognosis for individuals with XLA has improved markedly in the last 25 years as a result of earlier diagnosis, the development of preparations of gammaglobulin that allow normal concentrations of serum immunoglobulin G to be achieved, and more liberal use of antibiotics.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65123">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>
|
||
<div class="divPopper rprt" id="rdis_395288"><div><strong>Bare lymphocyte syndrome type 2, complementation group A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395288</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.">C1859534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). People with BLS II lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.\n\nBLS II is typically diagnosed in the first year of life. Most affected infants have persistent infections in the respiratory, gastrointestinal, and urinary tracts. Because of the infections, affected infants have difficulty absorbing nutrients (malabsorption), and they grow more slowly than their peers. Eventually, the persistent infections lead to organ failure. Without treatment, individuals with BLS II usually do not survive past early childhood.\n\nIn people with BLS II, infection-fighting white blood cells (lymphocytes) are missing specialized proteins on their surface called major histocompatibility complex (MHC) class II proteins, which is where the condition got its name. Because BLS II is the most common and best studied form of a group of related conditions, it is often referred to as simply bare lymphocyte syndrome (BLS).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395288">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348040"><div><strong>Short-limb skeletal dysplasia with severe combined immunodeficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348040</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.">C1860168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348040">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461557"><div><strong>Agammaglobulinemia 6, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461557</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.">C3150207</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461557">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462100"><div><strong>Agammaglobulinemia 2, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462100</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.">C3150750</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462100">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462101"><div><strong>Agammaglobulinemia 3, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462101</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.">C3150751</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462101">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462102"><div><strong>Agammaglobulinemia 4, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462102</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.">C3150752</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462102">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462103"><div><strong>Agammaglobulinemia 5, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462103</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.">C3150753</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462103">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_463494"><div><strong>Autosomal recessive agammaglobulinemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463494</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.">C3152144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Agammaglobulinemia is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. The most common form of agammaglobulinemia is X-linked agammaglobulinemia (AGMX1, XLA; 300755), also known as Bruton disease, which is caused by mutation in the BTK gene (300300). AGMX1 accounts for anywhere from 85 to 95% of males who have the characteristic findings (Lopez Granados et al., 2002; Ferrari et al., 2007). Autosomal recessive inheritance of agammaglobulinemia, which has a similar phenotype to that of the X-linked form, has been observed in a small number of families, and accounts for up to 15% of patients with agammaglobulinemia (Ferrari et al., 2007). Conley (1999) gave a comprehensive review of autosomal recessive agammaglobulinemia. Genetic Heterogeneity of Autosomal Agammaglobulinemia Autosomal agammaglobulinemia is a genetically heterogeneous disorder: see also AGM2 (613500), caused by mutation in the IGLL1 gene (146770); AGM3 (613501), caused by mutation in the CD79A gene (112205); AGM4 (613502), caused by mutation in the BLNK gene (604515); AGM5 (613506), caused by disruption of the LRRC8 gene (608360); AGM6 (612692), caused by mutation in the CD79B gene (147245); AGM7 (615214), caused by mutation in the PIK3R1 gene (171833); AGM8 (616941), caused by mutation in the TCF3 gene (147141); AGM9 (619693), caused by mutation in the SLC39A7 gene (601416); and AGM10 (619707), caused by mutation in the SPI1 gene (165170).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/463494">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767600"><div><strong>Severe combined immunodeficiency due to CARD11 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767600</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.">C3554686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-11A is an autosomal recessive primary immunodeficiency characterized by normal numbers of T and B lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T cells and defects in T-cell function (summary by Greil et al., 2013 and Stepensky et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767600">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767603"><div><strong>Agammaglobulinemia 7, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767603</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.">C3554689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767603">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934753"><div><strong>Agammaglobulinemia 8, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934753</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.">C4310786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934753">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934765"><div><strong>Immunodeficiency-centromeric instability-facial anomalies syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934765</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.">C4310798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015). For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (242860).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934765">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934766"><div><strong>Immunodeficiency-centromeric instability-facial anomalies syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934766</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.">C4310799</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015). For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (242860).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934766">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648569"><div><strong>Severe combined immunodeficiency due to IKK2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648569</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.">C4747743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-15B (IMD15B) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by Pannicke et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648569">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794269"><div><strong>Agammaglobulinemia 9, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794269</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.">C5562059</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Agammaglobulinemia-9 (AGM9) is an autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy (summary by Anzilotti et al., 2019). For a discussion of genetic heterogeneity of autosomal agammaglobulinemia, see AGM1 (601495).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794269">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1804175"><div><strong>Immunodeficiency 93 and hypertrophic cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804175</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.">C5676899</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-93 and hypertrophic cardiomyopathy (IMD93) is an autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects (summary by Niehues et al., 2020 and Saettini et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1804175">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1806624"><div><strong>Agammaglobulinemia 10, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1806624</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.">C5676900</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant agammaglobulinemia-10 (AGM10) is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported (summary by Le Coz et al., 2021). For a discussion of genetic heterogeneity of autosomal agammaglobulinemia, see AGM1 (601495).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1806624">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1808468"><div><strong>Agammaglobulinemia 8b, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808468</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.">C5676958</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive agammaglobulinemia-8B (AGM8B) is characterized by onset of recurrent infections in early childhood. Laboratory studies of affected individuals show decreased circulating immunoglobulins and decreased peripheral B cells. More variable features may include dysmorphic facies and subtle abnormalities of other immune cells, such as T cells. One patient who developed childhood B-cell acute lymphocytic leukemia (B-ALL) has been described (summary by Ben-Ali et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1808468">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1806192"><div><strong>Gastrointestinal defects and immunodeficiency syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1806192</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.">C5680044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) is characterized by multiple intestinal atresia, in which atresia occurs at various levels throughout the small and large intestines. Surgical outcomes are poor, and the condition is usually fatal within the first month of life. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency (Samuels et al., 2013; Avitzur et al., 2014; Lemoine et al., 2014). Genetic Heterogeneity of GIDID See also GIDID2 (619708), caused by mutation in the PI4KA gene (600286) on chromosome 22q11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1806192">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1806624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agammaglobulinemia 10, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462100" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agammaglobulinemia 2, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agammaglobulinemia 3, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462102" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agammaglobulinemia 4, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agammaglobulinemia 5, autosomal dominant</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (21)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461557" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agammaglobulinemia 6, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agammaglobulinemia 7, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agammaglobulinemia 8, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1808468" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agammaglobulinemia 8b, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794269" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agammaglobulinemia 9, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463494" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive agammaglobulinemia 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bare lymphocyte syndrome type 2, complementation group A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1806192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal defects and immunodeficiency syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804175" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 93 and hypertrophic cardiomyopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency-centromeric instability-facial anomalies syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934765" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency-centromeric instability-facial anomalies syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767600" 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 CARD11 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648569" 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 IKK2 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-limb skeletal dysplasia with severe combined immunodeficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_65123" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked agammaglobulinemia</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/38625483">Clinical Utility of Flow-Cytometry for Diagnosis and Genotype Phenotype Correlation in a Cohort of X-linked Agammaglobulinemia Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yadav RM,
|
||
Desai SS,
|
||
Gupta M,
|
||
Dalvi A,
|
||
Bargir UA,
|
||
Jodhawat N,
|
||
Setia P,
|
||
Shinde S,
|
||
Parab A,
|
||
Gada A,
|
||
Taur P,
|
||
Desai M,
|
||
Madkaikar M</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2024 Jun;91(6):638.
|
||
Epub 2024 Apr 16
|
||
doi: 10.1007/s12098-024-05127-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38625483" target="_blank">38625483</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36974650">SARS-CoV-2 infection in a X-linked agammaglobulinemia adolescent: An immunological approach to treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stracuzzi M,
|
||
Vanetti C,
|
||
Clerici M,
|
||
Zuccotti GV,
|
||
Trabattoni D,
|
||
Giacomet V</span><br />
|
||
<span class="medgenPMjournal">Pediatr Allergy Immunol</span>
|
||
2023 Mar;34(3):e13921.
|
||
doi: 10.1111/pai.13921.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36974650" target="_blank">36974650</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32384040">Agammaglobulinemia: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pashangzadeh S,
|
||
Yazdani R,
|
||
Nazari F,
|
||
Azizi G,
|
||
Abolhassani H,
|
||
Aghamohammadi A</span><br />
|
||
<span class="medgenPMjournal">Endocr Metab Immune Disord Drug Targets</span>
|
||
2020;20(9):1434-1447.
|
||
doi: 10.2174/1871530320666200508114349.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32384040" target="_blank">32384040</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22agammaglobulinemia%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 (77)</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/36456193">Use of Rituximab in Childhood Idiopathic Nephrotic Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan EY,
|
||
Yap DY,
|
||
Colucci M,
|
||
Ma AL,
|
||
Parekh RS,
|
||
Tullus K</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2023 Apr 1;18(4):533-548.
|
||
Epub 2023 Feb 22
|
||
doi: 10.2215/CJN.08570722.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36456193" target="_blank">36456193</a><a href="/pmc/articles/PMC10103321" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35176351">Practical guidance for the diagnosis and management of secondary hypogammaglobulinemia: A Work Group Report of the AAAAI Primary Immunodeficiency and Altered Immune Response Committees.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Otani IM,
|
||
Lehman HK,
|
||
Jongco AM,
|
||
Tsao LR,
|
||
Azar AE,
|
||
Tarrant TK,
|
||
Engel E,
|
||
Walter JE,
|
||
Truong TQ,
|
||
Khan DA,
|
||
Ballow M,
|
||
Cunningham-Rundles C,
|
||
Lu H,
|
||
Kwan M,
|
||
Barmettler S</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2022 May;149(5):1525-1560.
|
||
Epub 2022 Feb 14
|
||
doi: 10.1016/j.jaci.2022.01.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35176351" target="_blank">35176351</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28013299">Autoimmunity in Primary Antibody Deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azizi G,
|
||
Ahmadi M,
|
||
Abolhassani H,
|
||
Yazdani R,
|
||
Mohammadi H,
|
||
Mirshafiey A,
|
||
Rezaei N,
|
||
Aghamohammadi A</span><br />
|
||
<span class="medgenPMjournal">Int Arch Allergy Immunol</span>
|
||
2016;171(3-4):180-193.
|
||
Epub 2016 Dec 24
|
||
doi: 10.1159/000453263.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28013299" target="_blank">28013299</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26563668">International Consensus Document (ICON): Common Variable Immunodeficiency Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonilla FA,
|
||
Barlan I,
|
||
Chapel H,
|
||
Costa-Carvalho BT,
|
||
Cunningham-Rundles C,
|
||
de la Morena MT,
|
||
Espinosa-Rosales FJ,
|
||
Hammarström L,
|
||
Nonoyama S,
|
||
Quinti I,
|
||
Routes JM,
|
||
Tang ML,
|
||
Warnatz K</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2016 Jan-Feb;4(1):38-59.
|
||
Epub 2015 Nov 7
|
||
doi: 10.1016/j.jaip.2015.07.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26563668" target="_blank">26563668</a><a href="/pmc/articles/PMC4869529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18940570">Hypogammaglobulinaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yong PF,
|
||
Chee R,
|
||
Grimbacher B</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2008 Nov;28(4):691-713, vii.
|
||
doi: 10.1016/j.iac.2008.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18940570" target="_blank">18940570</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Agammaglobulinemia%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 (1002)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34241796">Agammaglobulinemia: from X-linked to Autosomal Forms of Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cardenas-Morales M,
|
||
Hernandez-Trujillo VP</span><br />
|
||
<span class="medgenPMjournal">Clin Rev Allergy Immunol</span>
|
||
2022 Aug;63(1):22-35.
|
||
Epub 2021 Jul 9
|
||
doi: 10.1007/s12016-021-08870-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34241796" target="_blank">34241796</a><a href="/pmc/articles/PMC8269404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30800120">The Expanding Field of Secondary Antibody Deficiency: Causes, Diagnosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel SY,
|
||
Carbone J,
|
||
Jolles S</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2019;10:33.
|
||
Epub 2019 Feb 8
|
||
doi: 10.3389/fimmu.2019.00033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30800120" target="_blank">30800120</a><a href="/pmc/articles/PMC6376447" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26968964">Eosinophilic Gastrointestinal Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mikhail I,
|
||
Sampson H</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2016 Mar-Apr;4(2):369-70; quiz 371.
|
||
doi: 10.1016/j.jaip.2015.07.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26968964" target="_blank">26968964</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26909497">X-linked Agammaglobulinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suri D,
|
||
Rawat A,
|
||
Singh S</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2016 Apr;83(4):331-7.
|
||
Epub 2016 Feb 24
|
||
doi: 10.1007/s12098-015-2024-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26909497" target="_blank">26909497</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1433695">Immunodeficiency diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buckley RH</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1992 Nov 25;268(20):2797-806.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1433695" target="_blank">1433695</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Agammaglobulinemia%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 (1526)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32654695">Diagnosis and management of Specific Antibody Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perez EE,
|
||
Ballow M</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2020 Aug;40(3):499-510.
|
||
Epub 2020 Jun 9
|
||
doi: 10.1016/j.iac.2020.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32654695" target="_blank">32654695</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30466775">Personalized Therapy: Immunoglobulin Replacement for Antibody Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wasserman RL</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2019 Feb;39(1):95-111.
|
||
doi: 10.1016/j.iac.2018.08.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30466775" target="_blank">30466775</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29569510">Consequences of B-cell-depleting therapy: hypogammaglobulinemia and impaired B-cell reconstitution.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sacco KA,
|
||
Abraham RS</span><br />
|
||
<span class="medgenPMjournal">Immunotherapy</span>
|
||
2018 Jun;10(8):713-728.
|
||
Epub 2018 Mar 23
|
||
doi: 10.2217/imt-2017-0178.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29569510" target="_blank">29569510</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18940570">Hypogammaglobulinaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yong PF,
|
||
Chee R,
|
||
Grimbacher B</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2008 Nov;28(4):691-713, vii.
|
||
doi: 10.1016/j.iac.2008.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18940570" target="_blank">18940570</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11224991">Thymic malignancies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loehrer PJ Sr,
|
||
Wick MR</span><br />
|
||
<span class="medgenPMjournal">Cancer Treat Res</span>
|
||
2001;105:277-302.
|
||
doi: 10.1007/978-1-4615-1589-0_11.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11224991" target="_blank">11224991</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Agammaglobulinemia%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 (1386)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36456193">Use of Rituximab in Childhood Idiopathic Nephrotic Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan EY,
|
||
Yap DY,
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Epub 2023 Feb 22
|
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|
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<span class="bold">PMID: </span><a href="/pubmed/36456193" target="_blank">36456193</a><a href="/pmc/articles/PMC10103321" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34241796">Agammaglobulinemia: from X-linked to Autosomal Forms of Disease.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Cardenas-Morales M,
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<div class="nl"><a target="_blank" href="/pubmed/33643318">Update on Infections in Primary Antibody Deficiencies.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28126470">Ataxia-telangiectasia: Immunodeficiency and survival.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van Os NJH,
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Jansen AFM,
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van Deuren M,
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Haraldsson A,
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van Driel NTM,
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Etzioni A,
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van der Flier M,
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Haaxma CA,
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Morio T,
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Rawat A,
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Schoenaker MHD,
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Soresina A,
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van de Warrenburg BPC,
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<span class="bold">PMID: </span><a href="/pubmed/28126470" target="_blank">28126470</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Agammaglobulinemia%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 (609)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36456193">Use of Rituximab in Childhood Idiopathic Nephrotic Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chan EY,
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Yap DY,
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Colucci M,
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Ma AL,
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Parekh RS,
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Tullus K</span><br />
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<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2023 Apr 1;18(4):533-548.
|
||
Epub 2023 Feb 22
|
||
doi: 10.2215/CJN.08570722.
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||
<span class="bold">PMID: </span><a href="/pubmed/36456193" target="_blank">36456193</a><a href="/pmc/articles/PMC10103321" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34757064">Hypogammaglobulinemia After Chimeric Antigen Receptor (CAR) T-Cell Therapy: Characteristics, Management, and Future Directions.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wat J,
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Barmettler S</span><br />
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Epub 2021 Oct 28
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doi: 10.1016/j.jaip.2021.10.037.
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<span class="bold">PMID: </span><a href="/pubmed/34757064" target="_blank">34757064</a><a href="/pmc/articles/PMC8837681" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/34241796">Agammaglobulinemia: from X-linked to Autosomal Forms of Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cardenas-Morales M,
|
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Hernandez-Trujillo VP</span><br />
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<span class="medgenPMjournal">Clin Rev Allergy Immunol</span>
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||
2022 Aug;63(1):22-35.
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Epub 2021 Jul 9
|
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doi: 10.1007/s12016-021-08870-5.
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<span class="bold">PMID: </span><a href="/pubmed/34241796" target="_blank">34241796</a><a href="/pmc/articles/PMC8269404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31087308">Btk Inhibitors as First Oral Atherothrombosis-Selective Antiplatelet Drugs?</a></div>
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Denzinger V,
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2019 Aug;119(8):1212-1221.
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<span class="bold">PMID: </span><a href="/pubmed/31087308" target="_blank">31087308</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27412077">Anaphylaxis to IVIG.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Williams SJ,
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<span class="bold">PMID: </span><a href="/pubmed/27412077" target="_blank">27412077</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Agammaglobulinemia%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 (729)</a></div></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/34029777">Crohn's-like Enteritis in X-Linked Agammaglobulinemia: A Case Series and Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Khan F,
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Person H,
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Dekio F,
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Ogawa M,
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Ho HE,
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Dunkin D,
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Secord E,
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Cunningham-Rundles C,
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Ward SC</span><br />
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<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
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2021 Sep;9(9):3466-3478.
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||
Epub 2021 May 21
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||
doi: 10.1016/j.jaip.2021.04.070.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34029777" target="_blank">34029777</a><a href="/pmc/articles/PMC8434978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
|
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<div class="nl"><a target="_blank" href="/pubmed/33901990">Systematic review of childhood-onset polyarteritis nodosa and DADA2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kasap Cuceoglu M,
|
||
Sener S,
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Batu ED,
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Kaya Akca U,
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Demir S,
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Sag E,
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Atalay E,
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Balık Z,
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Basaran O,
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||
Bilginer Y,
|
||
Ozen S</span><br />
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<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
2021 Jun;51(3):559-564.
|
||
Epub 2021 Apr 19
|
||
doi: 10.1016/j.semarthrit.2021.04.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33901990" target="_blank">33901990</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28639577">Characteristics of Good's Syndrome in China: A Systematic Review.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Dong JP,
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||
Gao W,
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Teng GG,
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||
Tian Y,
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Wang HH</span><br />
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<span class="medgenPMjournal">Chin Med J (Engl)</span>
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2017 Jul 5;130(13):1604-1609.
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doi: 10.4103/0366-6999.208234.
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27187624">Primary immunodeficiency and recalcitrant chronic sinusitis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazza JM,
|
||
Lin SY</span><br />
|
||
<span class="medgenPMjournal">Int Forum Allergy Rhinol</span>
|
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2016 Oct;6(10):1029-1033.
|
||
Epub 2016 May 17
|
||
doi: 10.1002/alr.21789.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27187624" target="_blank">27187624</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18843719">Immunoglobulin prophylaxis in hematological malignancies and hematopoietic stem cell transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raanani P,
|
||
Gafter-Gvili A,
|
||
Paul M,
|
||
Ben-Bassat I,
|
||
Leibovici L,
|
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Shpilberg O</span><br />
|
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2008 Oct 8;2008(4):CD006501.
|
||
doi: 10.1002/14651858.CD006501.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18843719" target="_blank">18843719</a><a href="/pmc/articles/PMC10936547" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Agammaglobulinemia%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 (14)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0001768%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
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<li><a href="/gtr/tests?term=C0001768%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
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<li><a href="/gtr/tests?term=C0001768%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0001768%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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