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<meta name="keywords" content="C0043194, aldrich syndrome, disease or syndrome, eczema thrombocytopenia immunodeficiency syndrome, eczema, thrombocytopenia, immunodeficiency syndrome, eczema-thrombocytopenia-immunodeficiency syndrome, eczema-thrombocytopenia-immunodeficiency syndromes, imd 2, imd2, immunodeficiency 2, immunodeficiency 2s, immunodeficiency with thrombocytopenia and eczema, was, was - wiskott-aldrich syndrome, was1, wiskott aldrich syndrome, wiskott syndrome, wiskott syndromes, wiskott-aldrich syndrome, wiskott-aldrich syndrome 1, wiskott-aldrich syndrome, somatic, wiskott-aldrich syndrome, x-linked recessive, 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="The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes. Wiskott-Aldrich syndrome usually presents in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; recurrent bacterial, viral, fungal, and/or opportunistic infections; and eczema. Approximately 25%-40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, vasculitis, rheumatoid arthritis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have small platelet volume and thrombocytopenia. Severe disease-related events include severe bleeding episodes (14%), autoimmunity (12%), life-threatening infections (7%), and malignancy (5%). Males with XLN typically have congenital neutropenia associated with myelodysplasia, hyperactive neutrophils, increased myeloid cell apoptosis, and lymphoid cell abnormalities." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=21921
|
||
ConceptID=C0043194
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Wiskott-Aldrich syndrome<span class="h1sub">(WAS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21921</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:">C0043194</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>ALDRICH SYNDROME; Eczema thrombocytopenia immunodeficiency syndrome; IMD 2; IMMUNODEFICIENCY 2; WAS; WISKOTT-ALDRICH SYNDROME 1; Wiskott-aldrich syndrome, somatic</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Eczema, thrombocytopenia, immunodeficiency syndrome (36070007); WAS - Wiskott-Aldrich syndrome (36070007); Aldrich syndrome (36070007); Wiskott Aldrich syndrome (36070007); Wiskott-Aldrich syndrome (36070007); Immunodeficiency with thrombocytopenia AND eczema (36070007)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="WAS - ID: 7454 - NCBI Gene" href="/gene/7454" class="medgenPMinfo">WAS</a> (Xp11.23)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010518" target="_blank">MONDO:0010518</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/301000" target="_blank">301000</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=906">ORPHA906</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1178" target="_blank">WAS-Related Disorders</a></div><div>The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes. Wiskott-Aldrich syndrome usually presents in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; recurrent bacterial, viral, fungal, and/or opportunistic infections; and eczema. Approximately 25%-40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, vasculitis, rheumatoid arthritis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have small platelet volume and thrombocytopenia. Severe disease-related events include severe bleeding episodes (14%), autoimmunity (12%), life-threatening infections (7%), and malignancy (5%). Males with XLN typically have congenital neutropenia associated with myelodysplasia, hyperactive neutrophils, increased myeloid cell apoptosis, and lymphoid cell abnormalities. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1178#was.Summary" target="NBK1178">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1178#was.GeneReview_Scope" target="NBK1178">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1178#was.Diagnosis" target="NBK1178">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1178#was.Clinical_Characteristics" target="NBK1178">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1178#was.Genetically_Related_Allelic_Disorder" target="NBK1178">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1178#was.Differential_Diagnosis" target="NBK1178">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1178#was.Management" target="NBK1178">Management</a> | <a class="medgenPMinfo" href="/books/NBK1178#was.Genetic_Counseling" target="NBK1178">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1178#was.Resources" target="NBK1178">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1178#was.Molecular_Genetics" target="NBK1178">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1178#was.Chapter_Notes" target="NBK1178">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1178#was.References" target="NBK1178">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
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||
Sharat Chandra | Chinmayee B Nagaraj | Miao Sun<i>, et. al.</i> <a href="/books/NBK1178" target="NBK1178" title="NCBI Bookshelf: WAS-Related Disorders">view full author information</a></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections (Lemahieu et al., 1999).
|
||
Genetic Heterogeneity of Wiskott-Aldrich Syndrome
|
||
See Wiskott-Aldrich syndrome-2 (WAS2; 614493), caused by mutation in the WIPF1 gene (602357). Also see 600903 for a possible autosomal dominant form of the disorder. <a target="_blank" href="http://www.omim.org/entry/301000">http://www.omim.org/entry/301000</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency), eczema (an inflammatory skin disorder characterized by abnormal patches of red, irritated skin), and a reduced ability to form blood clots. This condition primarily affects males.<br /><br />Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting (platelets). This platelet abnormality, which is typically present from birth, can lead to easy bruising, bloody diarrhea, or episodes of prolonged bleeding following nose bleeds or minor trauma. Microthrombocytopenia can also lead to small areas of bleeding just under the surface of the skin, resulting in purplish spots called purpura, or variably sized rashes made up of tiny red spots called petechiae. In some cases, particularly if a bleeding episode occurs within the brain, prolonged bleeding can be life-threatening.<br /><br />Wiskott-Aldrich syndrome is also characterized by abnormal or nonfunctional immune system cells known as white blood cells. Changes in white blood cells lead to an increased risk of several immune and inflammatory disorders in people with Wiskott-Aldrich syndrome. These immune problems vary in severity and include an increased susceptibility to infection from bacteria, viruses, and fungi. People with Wiskott-Aldrich syndrome are at greater risk of developing autoimmune disorders, such as rheumatoid arthritis, vasculitis, or hemolytic anemia. These disorder occur when the immune system malfunctions and attacks the body's own tissues and organs. The chance of developing certain types of cancer, such as cancer of the immune system cells (lymphoma), is also increased in people with Wiskott-Aldrich syndrome.<br /><br />Wiskott-Aldrich syndrome is often considered to be part of a disease spectrum with two other disorders: X-linked thrombocytopenia and severe congenital neutropenia. These conditions have overlapping signs and symptoms and the same genetic cause. <a target="_blank" href="https://medlineplus.gov/genetics/condition/wiskott-aldrich-syndrome">https://medlineplus.gov/genetics/condition/wiskott-aldrich-syndrome</a></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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||
<div class="divPopper rprt" id="clin_6162"><div><strong>Lymphoproliferative disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6162</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.">C0024314</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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||
<div class="spaceAbove">A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/6162">Feature record</a> | <a href="/medgen?term=%22Lymphoproliferative%20disorder%22%5BClinical%20Features%5D%20OR%206162%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9635"><div><strong>Kidney disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9635</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.">C0022658</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 nonspecific term referring to disease or damage of the kidneys.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9635">Feature record</a> | <a href="/medgen?term=%22Kidney%20disorder%22%5BClinical%20Features%5D%20OR%209635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868710"><div><strong>Small vessel vasculitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868710</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.">C4023113</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 type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868710">Feature record</a> | <a href="/medgen?term=%22Small%20vessel%20vasculitis%22%5BClinical%20Features%5D%20OR%20868710%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870761"><div><strong>Large vessel vasculitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870761</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.">C4025218</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 type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870761">Feature record</a> | <a href="/medgen?term=%22Large%20vessel%20vasculitis%22%5BClinical%20Features%5D%20OR%20870761%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3532"><div><strong>Ulcerative colitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3532</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.">C0009324</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 chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3532">Feature record</a> | <a href="/medgen?term=%22Ulcerative%20colitis%22%5BClinical%20Features%5D%20OR%203532%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8360"><div><strong>Diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8360</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.">C0011991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8360">Feature record</a> | <a href="/medgen?term=%22Diarrhea%22%5BClinical%20Features%5D%20OR%208360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6770"><div><strong>Hematemesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6770</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.">C0018926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The vomiting of blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6770">Feature record</a> | <a href="/medgen?term=%22Hematemesis%22%5BClinical%20Features%5D%20OR%206770%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7523"><div><strong>Melena</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7523</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.">C0025222</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7523">Feature record</a> | <a href="/medgen?term=%22Melena%22%5BClinical%20Features%5D%20OR%207523%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96036"><div><strong>Chronic diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96036</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.">C0401151</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96036">Feature record</a> | <a href="/medgen?term=%22Chronic%20diarrhea%22%5BClinical%20Features%5D%20OR%2096036%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_662273"><div><strong>Inflammation of the large intestine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>662273</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.">C0578878</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation, or an inflammatory state in the large intestine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/662273">Feature record</a> | <a href="/medgen?term=%22Inflammation%20of%20the%20large%20intestine%22%5BClinical%20Features%5D%20OR%20662273%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4996"><div><strong>Epistaxis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4996</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.">C0014591</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4996">Feature record</a> | <a href="/medgen?term=%22Epistaxis%22%5BClinical%20Features%5D%20OR%204996%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42218"><div><strong>Gingival bleeding</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42218</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.">C0017565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemorrhage affecting the gingiva.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42218">Feature record</a> | <a href="/medgen?term=%22Gingival%20bleeding%22%5BClinical%20Features%5D%20OR%2042218%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</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.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56231"><div><strong>Prolonged bleeding time</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56231</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.">C0151529</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56231">Feature record</a> | <a href="/medgen?term=%22Prolonged%20bleeding%20time%22%5BClinical%20Features%5D%20OR%2056231%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57668"><div><strong>Iron deficiency anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57668</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.">C0162316</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57668">Feature record</a> | <a href="/medgen?term=%22Iron%20deficiency%20anemia%22%5BClinical%20Features%5D%20OR%2057668%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853132"><div><strong>Decreased mean platelet volume</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853132</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.">C1096368</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Average platelet volume below the lower limit of the normal reference interval.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853132">Feature record</a> | <a href="/medgen?term=%22Decreased%20mean%20platelet%20volume%22%5BClinical%20Features%5D%20OR%20853132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107919"><div><strong>Recurrent sinusitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107919</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.">C0581354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A recurrent form of sinusitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107919">Feature record</a> | <a href="/medgen?term=%22Recurrent%20sinusitis%22%5BClinical%20Features%5D%20OR%20107919%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154380"><div><strong>Recurrent upper respiratory tract infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154380</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.">C0581381</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154380">Feature record</a> | <a href="/medgen?term=%22Recurrent%20upper%20respiratory%20tract%20infections%22%5BClinical%20Features%5D%20OR%20154380%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195802"><div><strong>Recurrent pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195802</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.">C0694550</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195802">Feature record</a> | <a href="/medgen?term=%22Recurrent%20pneumonia%22%5BClinical%20Features%5D%20OR%20195802%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_756211"><div><strong>Recurrent lower respiratory tract infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756211</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.">C3163798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756211">Feature record</a> | <a href="/medgen?term=%22Recurrent%20lower%20respiratory%20tract%20infections%22%5BClinical%20Features%5D%20OR%20756211%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1918"><div><strong>Autoimmune hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1918</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.">C0002880</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autoimmune form of hemolytic anemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1918">Feature record</a> | <a href="/medgen?term=%22Autoimmune%20hemolytic%20anemia%22%5BClinical%20Features%5D%20OR%201918%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3968"><div><strong>Eczematoid dermatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3968</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.">C0013595</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3968">Feature record</a> | <a href="/medgen?term=%22Eczematoid%20dermatitis%22%5BClinical%20Features%5D%20OR%203968%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41824"><div><strong>Eosinophilia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41824</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.">C0014457</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased count of eosinophils in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41824">Feature record</a> | <a href="/medgen?term=%22Eosinophilia%22%5BClinical%20Features%5D%20OR%2041824%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7418"><div><strong>Lymphopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7418</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.">C0024312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced number of lymphocytes in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7418">Feature record</a> | <a href="/medgen?term=%22Lymphopenia%22%5BClinical%20Features%5D%20OR%207418%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48626"><div><strong>Sepsis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48626</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.">C0036690</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Systemic inflammatory response to infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48626">Feature record</a> | <a href="/medgen?term=%22Sepsis%22%5BClinical%20Features%5D%20OR%2048626%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116018"><div><strong>Increased circulating IgE concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116018</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.">C0236175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased overall level of immunoglobulin E in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116018">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20IgE%20concentration%22%5BClinical%20Features%5D%20OR%20116018%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66800"><div><strong>Increased circulating IgA concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66800</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.">C0239984</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased level of immunoglobulin A in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66800">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20IgA%20concentration%22%5BClinical%20Features%5D%20OR%2066800%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116095"><div><strong>Decreased circulating total IgM</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116095</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.">C0239989</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased level of immunoglobulin M (IgM) in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116095">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20total%20IgM%22%5BClinical%20Features%5D%20OR%20116095%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_152879"><div><strong>Recurrent meningitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152879</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.">C0746495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/152879">Feature record</a> | <a href="/medgen?term=%22Recurrent%20meningitis%22%5BClinical%20Features%5D%20OR%20152879%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155436"><div><strong>Recurrent otitis media</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155436</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.">C0747085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155436">Feature record</a> | <a href="/medgen?term=%22Recurrent%20otitis%20media%22%5BClinical%20Features%5D%20OR%20155436%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322137"><div><strong>Abnormal delayed hypersensitivity skin test</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322137</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.">C1833172</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322137">Feature record</a> | <a href="/medgen?term=%22Abnormal%20delayed%20hypersensitivity%20skin%20test%22%5BClinical%20Features%5D%20OR%20322137%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322138"><div><strong>Absent microvilli on the surface of peripheral blood lymphocytes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322138</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.">C1833173</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322138">Feature record</a> | <a href="/medgen?term=%22Absent%20microvilli%20on%20the%20surface%20of%20peripheral%20blood%20lymphocytes%22%5BClinical%20Features%5D%20OR%20322138%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_374188"><div><strong>Decreased proportion of CD8-positive T cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374188</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.">C1839305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374188">Feature record</a> | <a href="/medgen?term=%22Decreased%20proportion%20of%20CD8-positive%20T%20cells%22%5BClinical%20Features%5D%20OR%20374188%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333452"><div><strong>Reduced natural killer cell activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333452</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.">C1839969</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced ability of the natural killer cell to function in the adaptive immune response.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333452">Feature record</a> | <a href="/medgen?term=%22Reduced%20natural%20killer%20cell%20activity%22%5BClinical%20Features%5D%20OR%20333452%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867382"><div><strong>Decreased specific anti-polysaccharide antibody level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867382</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.">C4021747</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867382">Feature record</a> | <a href="/medgen?term=%22Decreased%20specific%20anti-polysaccharide%20antibody%20level%22%5BClinical%20Features%5D%20OR%20867382%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867397"><div><strong>Reduced lymphocyte surface expression of CD43</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867397</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.">C4021766</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the expression of CD43 on the cell surface of lymphocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867397">Feature record</a> | <a href="/medgen?term=%22Reduced%20lymphocyte%20surface%20expression%20of%20CD43%22%5BClinical%20Features%5D%20OR%20867397%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870750"><div><strong>Recurrent herpes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870750</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.">C4025207</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870750">Feature record</a> | <a href="/medgen?term=%22Recurrent%20herpes%22%5BClinical%20Features%5D%20OR%20870750%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871152"><div><strong>Impaired lymphocyte transformation with phytohemagglutinin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871152</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.">C4025625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871152">Feature record</a> | <a href="/medgen?term=%22Impaired%20lymphocyte%20transformation%20with%20phytohemagglutinin%22%5BClinical%20Features%5D%20OR%20871152%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1719772"><div><strong>Decreased proportion of CD4-positive helper T cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1719772</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.">C5235140</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1719772">Feature record</a> | <a href="/medgen?term=%22Decreased%20proportion%20of%20CD4-positive%20helper%20T%20cells%22%5BClinical%20Features%5D%20OR%201719772%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10459"><div><strong>Oral bleeding</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10459</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.">C0029163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bleeding originating from the mouth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10459">Feature record</a> | <a href="/medgen?term=%22Oral%20bleeding%22%5BClinical%20Features%5D%20OR%2010459%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10680"><div><strong>Petechiae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10680</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.">C0031256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10680">Feature record</a> | <a href="/medgen?term=%22Petechiae%22%5BClinical%20Features%5D%20OR%2010680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19584"><div><strong>Purpura</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19584</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.">C0034150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Purpura (from Latin</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19584">Feature record</a> | <a href="/medgen?term=%22Purpura%22%5BClinical%20Features%5D%20OR%2019584%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased mean platelet volume</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epistaxis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gingival bleeding</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57668" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Iron deficiency anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged bleeding time</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10459" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oral bleeding</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870761" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Large vessel vasculitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868710" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small vessel vasculitis</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96036" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6770" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hematemesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_662273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inflammation of the large intestine</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7523" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Melena</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ulcerative colitis</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kidney disorder</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal delayed hypersensitivity skin test</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent microvilli on the surface of peripheral blood lymphocytes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune hemolytic anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating total IgM</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1719772" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased proportion of CD4-positive helper T cells</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374188" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased proportion of CD8-positive T cells</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased specific anti-polysaccharide antibody level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eczematoid dermatitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41824" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eosinophilia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871152" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired lymphocyte transformation with phytohemagglutinin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66800" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating IgA concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating IgE concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7418" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent herpes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_152879" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent meningitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent otitis media</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867397" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced lymphocyte surface expression of CD43</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced natural killer cell activity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48626" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sepsis</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Petechiae</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19584" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Purpura</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_756211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent lower respiratory tract infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent pneumonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent sinusitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent upper respiratory tract infections</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6162" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphoproliferative disorder</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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><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=C0043194[DISCUI]&test_type=Clinical" ref="ncbi_uid=21921">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=21921" target="_blank" href="/omim/300392">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1178/" ref="ncbi_uid=21921">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=21921" ref="ncbi_uid=21921">V</a></span></span><span class="TLline">Wiskott-Aldrich syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/751396" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency">Combined immunodeficiency</a></span><ul><li><span class="matched_ds">Wiskott-Aldrich syndrome</span></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=144&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Wiskott-Aldrich syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38579284">Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vallée TC,
|
||
Glasmacher JS,
|
||
Buchner H,
|
||
Arkwright PD,
|
||
Behrends U,
|
||
Bondarenko A,
|
||
Browning MJ,
|
||
Buchbinder D,
|
||
Cattoni A,
|
||
Chernyshova L,
|
||
Ciznar P,
|
||
Cole T,
|
||
Czogała W,
|
||
Dueckers G,
|
||
Edgar JDM,
|
||
Erbey F,
|
||
Fasth A,
|
||
Ferrua F,
|
||
Formankova R,
|
||
Gambineri E,
|
||
Gennery AR,
|
||
Goldman FD,
|
||
Gonzalez-Granado LI,
|
||
Heilmann C,
|
||
Heiskanen-Kosma T,
|
||
Juntti H,
|
||
Kainulainen L,
|
||
Kanegane H,
|
||
Karaca NE,
|
||
Kilic SS,
|
||
Klein C,
|
||
Kołtan S,
|
||
Kondratenko I,
|
||
Meyts I,
|
||
Nasrullayeva GM,
|
||
Notarangelo LD,
|
||
Pasic S,
|
||
Pellier I,
|
||
Pignata C,
|
||
Misbah S,
|
||
Schulz A,
|
||
Segundo GR,
|
||
Shcherbina A,
|
||
Slatter M,
|
||
Sokolic R,
|
||
Soler-Palacin P,
|
||
Stepensky P,
|
||
van Montfrans JM,
|
||
Ryhänen S,
|
||
Wolska-Kuśnierz B,
|
||
Ziegler JB,
|
||
Zhao X,
|
||
Aiuti A,
|
||
Ochs HD,
|
||
Albert MH</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2024 Jun 13;143(24):2504-2516.
|
||
doi: 10.1182/blood.2023021411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38579284" target="_blank">38579284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14663840">Prenatal diagnosis and genetic analysis of Wiskott-Aldrich syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siminovitch KA</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2003 Dec 15;23(12):1014-6.
|
||
doi: 10.1002/pd.745.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14663840" target="_blank">14663840</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3294390">Wiskott-Aldrich syndrome: new perspectives in pathogenesis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Standen GR</span><br />
|
||
<span class="medgenPMjournal">J R Coll Physicians Lond</span>
|
||
1988 Apr;22(2):80-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3294390" target="_blank">3294390</a><a href="/pmc/articles/PMC5379392" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22wiskott-aldrich%20syndrome%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 (58)</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/35100336">Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albert MH,
|
||
Slatter MA,
|
||
Gennery AR,
|
||
Güngör T,
|
||
Bakunina K,
|
||
Markovitch B,
|
||
Hazelaar S,
|
||
Sirait T,
|
||
Courteille V,
|
||
Aiuti A,
|
||
Aleinikova OV,
|
||
Balashov D,
|
||
Bernardo ME,
|
||
Bodova I,
|
||
Bruno B,
|
||
Cavazzana M,
|
||
Chiesa R,
|
||
Fischer A,
|
||
Hauck F,
|
||
Ifversen M,
|
||
Kałwak K,
|
||
Klein C,
|
||
Kulagin A,
|
||
Kupesiz A,
|
||
Kuskonmaz B,
|
||
Lindemans CA,
|
||
Locatelli F,
|
||
Lum SH,
|
||
Maschan A,
|
||
Meisel R,
|
||
Moshous D,
|
||
Porta F,
|
||
Sauer MG,
|
||
Sedlacek P,
|
||
Schulz A,
|
||
Suarez F,
|
||
Vallée TC,
|
||
Winiarski JH,
|
||
Zecca M,
|
||
Neven B,
|
||
Veys P,
|
||
Lankester AC</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2022 Mar 31;139(13):2066-2079.
|
||
doi: 10.1182/blood.2021014687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35100336" target="_blank">35100336</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30864154">How I manage patients with Wiskott Aldrich syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rivers E,
|
||
Worth A,
|
||
Thrasher AJ,
|
||
Burns SO</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2019 May;185(4):647-655.
|
||
Epub 2019 Mar 12
|
||
doi: 10.1111/bjh.15831.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30864154" target="_blank">30864154</a><a href="/pmc/articles/PMC7612067" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30264496">Hyper IgE syndromes: clinical and molecular characteristics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Shaikhly T,
|
||
Ochs HD</span><br />
|
||
<span class="medgenPMjournal">Immunol Cell Biol</span>
|
||
2019 Apr;97(4):368-379.
|
||
Epub 2018 Nov 19
|
||
doi: 10.1111/imcb.12209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30264496" target="_blank">30264496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28684198">Flow cytometry-based diagnosis of primary immunodeficiency diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanegane H,
|
||
Hoshino A,
|
||
Okano T,
|
||
Yasumi T,
|
||
Wada T,
|
||
Takada H,
|
||
Okada S,
|
||
Yamashita M,
|
||
Yeh TW,
|
||
Nishikomori R,
|
||
Takagi M,
|
||
Imai K,
|
||
Ochs HD,
|
||
Morio T</span><br />
|
||
<span class="medgenPMjournal">Allergol Int</span>
|
||
2018 Jan;67(1):43-54.
|
||
Epub 2017 Jul 3
|
||
doi: 10.1016/j.alit.2017.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28684198" target="_blank">28684198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28895850">Gene Therapy Approaches to Immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghosh S,
|
||
Gaspar HB</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
2017 Oct;31(5):823-834.
|
||
Epub 2017 Jun 29
|
||
doi: 10.1016/j.hoc.2017.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28895850" target="_blank">28895850</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wiskott-Aldrich%20syndrome%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 (338)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38100131">Wiskott-Aldrich syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pelling D,
|
||
Bain BJ</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2024 May;99(5):969-970.
|
||
Epub 2023 Dec 15
|
||
doi: 10.1002/ajh.27183.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38100131" target="_blank">38100131</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30864154">How I manage patients with Wiskott Aldrich syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rivers E,
|
||
Worth A,
|
||
Thrasher AJ,
|
||
Burns SO</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2019 May;185(4):647-655.
|
||
Epub 2019 Mar 12
|
||
doi: 10.1111/bjh.15831.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30864154" target="_blank">30864154</a><a href="/pmc/articles/PMC7612067" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28684198">Flow cytometry-based diagnosis of primary immunodeficiency diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanegane H,
|
||
Hoshino A,
|
||
Okano T,
|
||
Yasumi T,
|
||
Wada T,
|
||
Takada H,
|
||
Okada S,
|
||
Yamashita M,
|
||
Yeh TW,
|
||
Nishikomori R,
|
||
Takagi M,
|
||
Imai K,
|
||
Ochs HD,
|
||
Morio T</span><br />
|
||
<span class="medgenPMjournal">Allergol Int</span>
|
||
2018 Jan;67(1):43-54.
|
||
Epub 2017 Jul 3
|
||
doi: 10.1016/j.alit.2017.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28684198" target="_blank">28684198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23527602">Wiskott-Aldrich syndrome: a comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Massaad MJ,
|
||
Ramesh N,
|
||
Geha RS</span><br />
|
||
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
2013 May;1285:26-43.
|
||
Epub 2013 Mar 25
|
||
doi: 10.1111/nyas.12049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23527602" target="_blank">23527602</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12040832">The Wiskott-Aldrich syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ochs HD</span><br />
|
||
<span class="medgenPMjournal">Isr Med Assoc J</span>
|
||
2002 May;4(5):379-84.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12040832" target="_blank">12040832</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wiskott-Aldrich%20syndrome%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 (492)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37478401">Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Labrosse R,
|
||
Chu JI,
|
||
Armant MA,
|
||
Everett JK,
|
||
Pellin D,
|
||
Kareddy N,
|
||
Frelinger AL,
|
||
Henderson LA,
|
||
O'Connell AE,
|
||
Biswas A,
|
||
Coenen-van der Spek J,
|
||
Miggelbrink A,
|
||
Fiorini C,
|
||
Adhikari H,
|
||
Berry CC,
|
||
Cantu VA,
|
||
Fong J,
|
||
Jaroslavsky J,
|
||
Karadeniz DF,
|
||
Li QZ,
|
||
Reddy S,
|
||
Roche AM,
|
||
Zhu C,
|
||
Whangbo JS,
|
||
Dansereau C,
|
||
Mackinnon B,
|
||
Morris E,
|
||
Koo SM,
|
||
London WB,
|
||
Baris S,
|
||
Ozen A,
|
||
Karakoc-Aydiner E,
|
||
Despotovic JM,
|
||
Forbes Satter LR,
|
||
Saitoh A,
|
||
Aizawa Y,
|
||
King A,
|
||
Nguyen MAT,
|
||
Vu VDU,
|
||
Snapper SB,
|
||
Galy A,
|
||
Notarangelo LD,
|
||
Bushman FD,
|
||
Williams DA,
|
||
Pai SY</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2023 Oct 12;142(15):1281-1296.
|
||
doi: 10.1182/blood.2022019117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37478401" target="_blank">37478401</a><a href="/pmc/articles/PMC10731922" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31826240">Gene therapy for severe combined immunodeficiencies and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fischer A,
|
||
Hacein-Bey-Abina S</span><br />
|
||
<span class="medgenPMjournal">J Exp Med</span>
|
||
2020 Jan 6;217(2)
|
||
doi: 10.1084/jem.20190607.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31826240" target="_blank">31826240</a><a href="/pmc/articles/PMC7041706" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28895850">Gene Therapy Approaches to Immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghosh S,
|
||
Gaspar HB</span><br />
|
||
<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
|
||
2017 Oct;31(5):823-834.
|
||
Epub 2017 Jun 29
|
||
doi: 10.1016/j.hoc.2017.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28895850" target="_blank">28895850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20008220">Congenital neutropenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klein C</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2009:344-50.
|
||
doi: 10.1182/asheducation-2009.1.344.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20008220" target="_blank">20008220</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18456377">Immunodeficiency-associated lymphomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tran H,
|
||
Nourse J,
|
||
Hall S,
|
||
Green M,
|
||
Griffiths L,
|
||
Gandhi MK</span><br />
|
||
<span class="medgenPMjournal">Blood Rev</span>
|
||
2008 Sep;22(5):261-81.
|
||
Epub 2008 May 5
|
||
doi: 10.1016/j.blre.2008.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18456377" target="_blank">18456377</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wiskott-Aldrich%20syndrome%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 (342)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39442556">Long-term lineage commitment in haematopoietic stem cell gene therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Calabria A,
|
||
Spinozzi G,
|
||
Cesana D,
|
||
Buscaroli E,
|
||
Benedicenti F,
|
||
Pais G,
|
||
Gazzo F,
|
||
Scala S,
|
||
Lidonnici MR,
|
||
Scaramuzza S,
|
||
Albertini A,
|
||
Esposito S,
|
||
Tucci F,
|
||
Canarutto D,
|
||
Omrani M,
|
||
De Mattia F,
|
||
Dionisio F,
|
||
Giannelli S,
|
||
Marktel S,
|
||
Fumagalli F,
|
||
Calbi V,
|
||
Cenciarelli S,
|
||
Ferrua F,
|
||
Gentner B,
|
||
Caravagna G,
|
||
Ciceri F,
|
||
Naldini L,
|
||
Ferrari G,
|
||
Aiuti A,
|
||
Montini E</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2024 Dec;636(8041):162-171.
|
||
Epub 2024 Oct 23
|
||
doi: 10.1038/s41586-024-08250-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39442556" target="_blank">39442556</a><a href="/pmc/articles/PMC11618100" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39304328">Somatic reversion in Wiskott-Aldrich syndrome: Case reports and mechanistic insights.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rikhi R,
|
||
Basu S,
|
||
Arora K,
|
||
Chan KW,
|
||
Jindal AK,
|
||
Rawat A,
|
||
Lau YL,
|
||
Suri D</span><br />
|
||
<span class="medgenPMjournal">Scand J Immunol</span>
|
||
2024 Nov;100(5):e13408.
|
||
Epub 2024 Sep 20
|
||
doi: 10.1111/sji.13408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39304328" target="_blank">39304328</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38579284">Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vallée TC,
|
||
Glasmacher JS,
|
||
Buchner H,
|
||
Arkwright PD,
|
||
Behrends U,
|
||
Bondarenko A,
|
||
Browning MJ,
|
||
Buchbinder D,
|
||
Cattoni A,
|
||
Chernyshova L,
|
||
Ciznar P,
|
||
Cole T,
|
||
Czogała W,
|
||
Dueckers G,
|
||
Edgar JDM,
|
||
Erbey F,
|
||
Fasth A,
|
||
Ferrua F,
|
||
Formankova R,
|
||
Gambineri E,
|
||
Gennery AR,
|
||
Goldman FD,
|
||
Gonzalez-Granado LI,
|
||
Heilmann C,
|
||
Heiskanen-Kosma T,
|
||
Juntti H,
|
||
Kainulainen L,
|
||
Kanegane H,
|
||
Karaca NE,
|
||
Kilic SS,
|
||
Klein C,
|
||
Kołtan S,
|
||
Kondratenko I,
|
||
Meyts I,
|
||
Nasrullayeva GM,
|
||
Notarangelo LD,
|
||
Pasic S,
|
||
Pellier I,
|
||
Pignata C,
|
||
Misbah S,
|
||
Schulz A,
|
||
Segundo GR,
|
||
Shcherbina A,
|
||
Slatter M,
|
||
Sokolic R,
|
||
Soler-Palacin P,
|
||
Stepensky P,
|
||
van Montfrans JM,
|
||
Ryhänen S,
|
||
Wolska-Kuśnierz B,
|
||
Ziegler JB,
|
||
Zhao X,
|
||
Aiuti A,
|
||
Ochs HD,
|
||
Albert MH</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2024 Jun 13;143(24):2504-2516.
|
||
doi: 10.1182/blood.2023021411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38579284" target="_blank">38579284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35100336">Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albert MH,
|
||
Slatter MA,
|
||
Gennery AR,
|
||
Güngör T,
|
||
Bakunina K,
|
||
Markovitch B,
|
||
Hazelaar S,
|
||
Sirait T,
|
||
Courteille V,
|
||
Aiuti A,
|
||
Aleinikova OV,
|
||
Balashov D,
|
||
Bernardo ME,
|
||
Bodova I,
|
||
Bruno B,
|
||
Cavazzana M,
|
||
Chiesa R,
|
||
Fischer A,
|
||
Hauck F,
|
||
Ifversen M,
|
||
Kałwak K,
|
||
Klein C,
|
||
Kulagin A,
|
||
Kupesiz A,
|
||
Kuskonmaz B,
|
||
Lindemans CA,
|
||
Locatelli F,
|
||
Lum SH,
|
||
Maschan A,
|
||
Meisel R,
|
||
Moshous D,
|
||
Porta F,
|
||
Sauer MG,
|
||
Sedlacek P,
|
||
Schulz A,
|
||
Suarez F,
|
||
Vallée TC,
|
||
Winiarski JH,
|
||
Zecca M,
|
||
Neven B,
|
||
Veys P,
|
||
Lankester AC</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2022 Mar 31;139(13):2066-2079.
|
||
doi: 10.1182/blood.2021014687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35100336" target="_blank">35100336</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22820513">Immune deficiency and autoimmunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atkinson TP</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Rheumatol</span>
|
||
2012 Sep;24(5):515-21.
|
||
doi: 10.1097/BOR.0b013e32835680c6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22820513" target="_blank">22820513</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wiskott-Aldrich%20syndrome%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 (288)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38579284">Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vallée TC,
|
||
Glasmacher JS,
|
||
Buchner H,
|
||
Arkwright PD,
|
||
Behrends U,
|
||
Bondarenko A,
|
||
Browning MJ,
|
||
Buchbinder D,
|
||
Cattoni A,
|
||
Chernyshova L,
|
||
Ciznar P,
|
||
Cole T,
|
||
Czogała W,
|
||
Dueckers G,
|
||
Edgar JDM,
|
||
Erbey F,
|
||
Fasth A,
|
||
Ferrua F,
|
||
Formankova R,
|
||
Gambineri E,
|
||
Gennery AR,
|
||
Goldman FD,
|
||
Gonzalez-Granado LI,
|
||
Heilmann C,
|
||
Heiskanen-Kosma T,
|
||
Juntti H,
|
||
Kainulainen L,
|
||
Kanegane H,
|
||
Karaca NE,
|
||
Kilic SS,
|
||
Klein C,
|
||
Kołtan S,
|
||
Kondratenko I,
|
||
Meyts I,
|
||
Nasrullayeva GM,
|
||
Notarangelo LD,
|
||
Pasic S,
|
||
Pellier I,
|
||
Pignata C,
|
||
Misbah S,
|
||
Schulz A,
|
||
Segundo GR,
|
||
Shcherbina A,
|
||
Slatter M,
|
||
Sokolic R,
|
||
Soler-Palacin P,
|
||
Stepensky P,
|
||
van Montfrans JM,
|
||
Ryhänen S,
|
||
Wolska-Kuśnierz B,
|
||
Ziegler JB,
|
||
Zhao X,
|
||
Aiuti A,
|
||
Ochs HD,
|
||
Albert MH</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2024 Jun 13;143(24):2504-2516.
|
||
doi: 10.1182/blood.2023021411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38579284" target="_blank">38579284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35100336">Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albert MH,
|
||
Slatter MA,
|
||
Gennery AR,
|
||
Güngör T,
|
||
Bakunina K,
|
||
Markovitch B,
|
||
Hazelaar S,
|
||
Sirait T,
|
||
Courteille V,
|
||
Aiuti A,
|
||
Aleinikova OV,
|
||
Balashov D,
|
||
Bernardo ME,
|
||
Bodova I,
|
||
Bruno B,
|
||
Cavazzana M,
|
||
Chiesa R,
|
||
Fischer A,
|
||
Hauck F,
|
||
Ifversen M,
|
||
Kałwak K,
|
||
Klein C,
|
||
Kulagin A,
|
||
Kupesiz A,
|
||
Kuskonmaz B,
|
||
Lindemans CA,
|
||
Locatelli F,
|
||
Lum SH,
|
||
Maschan A,
|
||
Meisel R,
|
||
Moshous D,
|
||
Porta F,
|
||
Sauer MG,
|
||
Sedlacek P,
|
||
Schulz A,
|
||
Suarez F,
|
||
Vallée TC,
|
||
Winiarski JH,
|
||
Zecca M,
|
||
Neven B,
|
||
Veys P,
|
||
Lankester AC</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2022 Mar 31;139(13):2066-2079.
|
||
doi: 10.1182/blood.2021014687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35100336" target="_blank">35100336</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31826240">Gene therapy for severe combined immunodeficiencies and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fischer A,
|
||
Hacein-Bey-Abina S</span><br />
|
||
<span class="medgenPMjournal">J Exp Med</span>
|
||
2020 Jan 6;217(2)
|
||
doi: 10.1084/jem.20190607.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31826240" target="_blank">31826240</a><a href="/pmc/articles/PMC7041706" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30182049">Experimental Models for Studying Food Allergy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanagaratham C,
|
||
Sallis BF,
|
||
Fiebiger E</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Gastroenterol Hepatol</span>
|
||
2018;6(3):356-369.e1.
|
||
Epub 2018 Jun 7
|
||
doi: 10.1016/j.jcmgh.2018.05.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30182049" target="_blank">30182049</a><a href="/pmc/articles/PMC6121159" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18978464">Somatic mosaicism in primary immune deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wada T,
|
||
Candotti F</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Allergy Clin Immunol</span>
|
||
2008 Dec;8(6):510-4.
|
||
doi: 10.1097/ACI.0b013e328314b651.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18978464" target="_blank">18978464</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wiskott-Aldrich%20syndrome%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 (413)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0043194%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (35)</a></li>
|
||
<li><a href="/gtr/tests?term=C0043194%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0043194%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0043194%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (54)</a></li>
|
||
<li><a href="/gtr/tests?term=C0043194%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (13)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0043194%5bDISCUI%5d" target="_blank">See all (70)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=301000" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=906" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Wiskott-Aldrich%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22wiskott-aldrich%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Wiskott-Aldrich%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300392" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7454[geneid]" target="_blank">View WAS variations in ClinVar</a></li><li><a href="/nuccore/188595698" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=301000" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Wiskott+Aldrich+syndrome/7514" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/wiskott_aldrich_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Wiskott-Aldrich%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/wiskott-aldrich-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7895/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301357" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Wiskott-Aldrich%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Wiskott-Aldrich%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=21921" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=21921" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0043194[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0043194[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=21921" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=21921" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=21921" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=21921" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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