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<meta name="keywords" content="C1328840, alps, alps - autoimmune lymphoproliferative syndrome, autoimmune lymphoproliferative syndrome, autoimmune lymphoproliferative syndrome type 1, autoimmune lymphoproliferative syndrome type 1, autosomal dominant, autoimmune lymphoproliferative syndrome, type i, autosomal dominant, autoimmune lymphoproliferative syndrome, type i, autosomal recessive, autoimmune lymphoproliferative syndrome, type ia, autoimmune lymphoproliferative syndrome, type ib, autoimmune lymphoproliferative syndromes, canale smith syndrome, canale-smith syndrome, canale-smith syndromes, disease or syndrome, fas, fas-related autoimmune lymphoproliferative syndrome, faslg, lymphoproliferative syndrome, autoimmune, lymphoproliferative syndromes, autoimmune, syndrome, autoimmune lymphoproliferative, syndrome, canale smith, syndrome, canale-smith, syndromes, autoimmune lymphoproliferative, syndromes, canale-smith, 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="Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS, severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
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||
UID=231300
|
||
ConceptID=C1328840
|
||
-->
|
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1108/bin/alps-Image001.gif" src-large="/books/NBK1108/bin/alps-Image001.jpg" /></a><br /><a href="/books/NBK1108/figure/alps.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Autoimmune lymphoproliferative syndrome type 1<span class="h1sub">(ALPS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>231300</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.">C1328840</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>ALPS; Autoimmune lymphoproliferative syndrome type 1, autosomal dominant; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT; FAS-Related Autoimmune Lymphoproliferative Syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Autoimmune lymphoproliferative syndrome (702444009); Canale-Smith syndrome (702444009); ALPS - autoimmune lymphoproliferative syndrome (702444009)</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">Genes (locations):<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="FAS - ID: 355 - NCBI Gene" href="/gene/355" class="medgenPMinfo">FAS</a> (10q23.31); <a target="_blank" title="FASLG - ID: 356 - NCBI Gene" href="/gene/356" class="medgenPMinfo">FASLG</a> (1q24.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011158" target="_blank">MONDO:0011158</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/601859" target="_blank">601859</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>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1108" target="_blank">Autoimmune Lymphoproliferative Syndrome</a></div><div>Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS, severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (α/β-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published. [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/NBK1108#alps.Summary" target="NBK1108">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1108#alps.Diagnosis" target="NBK1108">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1108#alps.Clinical_Characteristics" target="NBK1108">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1108#alps.Genetically_Related_Allelic_Disorde" target="NBK1108">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1108#alps.Differential_Diagnosis" target="NBK1108">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1108#alps.Management" target="NBK1108">Management</a> | <a class="medgenPMinfo" href="/books/NBK1108#alps.Genetic_Counseling" target="NBK1108">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1108#alps.Resources" target="NBK1108">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1108#alps.Molecular_Genetics" target="NBK1108">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1108#alps.References" target="NBK1108">References</a> | <a class="medgenPMinfo" href="/books/NBK1108#alps.Chapter_Notes" target="NBK1108">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Jack JH Bleesing | Chinmayee B Nagaraj | Kejian Zhang <a href="/books/NBK1108" target="NBK1108" title="NCBI Bookshelf: Autoimmune Lymphoproliferative Syndrome">view full author information</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<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>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Autoimmune lymphoproliferative syndrome is a heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes. It manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias (summary by Dowdell et al., 2010).
|
||
For a review of the autoimmune lymphoproliferative syndromes, see Teachey et al. (2009).
|
||
Genetic Heterogeneity of Autoimmune Lymphoproliferative Syndrome
|
||
Type IIA ALPS (ALPS2A; 603909) is caused by mutation in the caspase-10 gene (CASP10; 601762). Puck and Straus (2004) designated caspase-8 deficiency (607271), caused by mutations in the CASP8 gene (601763), as type IIB ALPS. ALPS3 (615559) is caused by mutation in the PRKCD gene (176977). RAS-associated ALPS (RALD, or ALPS4; 614470) is caused by mutation in the NRAS gene (164790). ALPS5 (616100) is caused by mutation in the CTLA4 gene (123890). <a target="_blank" href="http://www.omim.org/entry/601859">http://www.omim.org/entry/601859</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly).<br /><br />Autoimmune disorders are also common in ALPS. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Most of the autoimmune disorders associated with ALPS target and damage blood cells. For example, the immune system may attack red blood cells (autoimmune hemolytic anemia), white blood cells (autoimmune neutropenia), or platelets (autoimmune thrombocytopenia). Less commonly, autoimmune disorders that affect other organs and tissues occur in people with ALPS. These disorders can damage the kidneys (glomerulonephritis), liver (autoimmune hepatitis), eyes (uveitis), or nerves (Guillain-Barre syndrome). Skin problems, usually rashes or hives (urticaria), can also occur in ALPS.<br /><br />ALPS can have varying patterns of signs and symptoms. Most commonly, lymphoproliferation becomes apparent during childhood. Enlargement of the lymph nodes and spleen frequently occur in affected individuals. Autoimmune disorders typically develop several years later, most frequently as a combination of hemolytic anemia and thrombocytopenia, also called Evans syndrome. People with this classic form of ALPS generally have a near-normal lifespan, but have a greatly increased risk of developing cancer of the immune system cells (lymphoma) compared with the general population.<br /><br />Some people have signs and symptoms that resemble those of ALPS, including lymphoproliferation, lymphadenopathy, splenomegaly, and low blood counts, but the specific pattern of these signs and symptoms or the genetic cause may be different. Researchers disagree whether individuals with these non-classic forms should be considered to have ALPS or a separate condition. <a target="_blank" href="https://medlineplus.gov/genetics/condition/autoimmune-lymphoproliferative-syndrome">https://medlineplus.gov/genetics/condition/autoimmune-lymphoproliferative-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_12054"><div><strong>Vasculitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12054</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.">C0042384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Inflammation of blood vessel.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12054">Feature record</a> | <a href="/medgen?term=%22Vasculitis%22%5BClinical%20Features%5D%20OR%2012054%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</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.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%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_105458"><div><strong>Coombs-positive hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105458</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.">C0520736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of hemolytic anemia in which the Coombs test is positive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105458">Feature record</a> | <a href="/medgen?term=%22Coombs-positive%20hemolytic%20anemia%22%5BClinical%20Features%5D%20OR%20105458%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_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_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</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.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56226"><div><strong>Rheumatoid factor positive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56226</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.">C0151379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence in the serum of an autoantibody directed against the Fc portion of IgG.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Rheumatoid%20factor%20positive%22%5BClinical%20Features%5D%20OR%2056226%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101792"><div><strong>Antinuclear antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101792</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.">C0151480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of autoantibodies in the serum that react against nuclei or nuclear components.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Antinuclear%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%20101792%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_116117"><div><strong>Anti-smooth muscle antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116117</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.">C0241185</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence in serum of antibodies against smooth muscle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Anti-smooth%20muscle%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%20116117%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116621"><div><strong>Autoimmune thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116621</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.">C0242584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116621">Feature record</a> | <a href="/medgen?term=%22Autoimmune%20thrombocytopenia%22%5BClinical%20Features%5D%20OR%20116621%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_137947"><div><strong>Neutropenia in presence of anti-neutropil antibodies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137947</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.">C0340971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137947">Feature record</a> | <a href="/medgen?term=%22Neutropenia%20in%20presence%20of%20anti-neutropil%20antibodies%22%5BClinical%20Features%5D%20OR%20137947%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333454"><div><strong>Increased circulating IgM level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333454</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.">C1839972</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased level of immunoglobulin M in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333454">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20IgM%20level%22%5BClinical%20Features%5D%20OR%20333454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334744"><div><strong>Reduced delayed hypersensitivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334744</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.">C1843386</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased ability to react to a delayed hypersensitivity skin test.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334744">Feature record</a> | <a href="/medgen?term=%22Reduced%20delayed%20hypersensitivity%22%5BClinical%20Features%5D%20OR%20334744%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_349066"><div><strong>Decreased lymphocyte apoptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349066</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.">C1858969</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the rate of apoptosis in lymphocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349066">Feature record</a> | <a href="/medgen?term=%22Decreased%20lymphocyte%20apoptosis%22%5BClinical%20Features%5D%20OR%20349066%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_395144"><div><strong>Chronic noninfectious lymphadenopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395144</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.">C1858970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A chronic form of lymphadenopathy that is not related to infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395144">Feature record</a> | <a href="/medgen?term=%22Chronic%20noninfectious%20lymphadenopathy%22%5BClinical%20Features%5D%20OR%20395144%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_395145"><div><strong>Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395145</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.">C1858973</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395145">Feature record</a> | <a href="/medgen?term=%22Elevated%20proportion%20of%20CD4-negative%2C%20CD8-negative%2C%20alpha-beta%20regulatory%20T%20cells%22%5BClinical%20Features%5D%20OR%20395145%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347032"><div><strong>Increased circulating IgG concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347032</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.">C1858977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased level of immunoglobulin G in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347032">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20IgG%20concentration%22%5BClinical%20Features%5D%20OR%20347032%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_349070"><div><strong>Platelet antibody positive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349070</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.">C1858980</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence in the serum of autoantibodies directed against thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Platelet%20antibody%20positive%22%5BClinical%20Features%5D%20OR%20349070%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_395147"><div><strong>Antineutrophil antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395147</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.">C1858981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of autoantibodies in the serum that react against neutrophils.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Antineutrophil%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%20395147%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_863170"><div><strong>Follicular hyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863170</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.">C4014733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863170">Feature record</a> | <a href="/medgen?term=%22Follicular%20hyperplasia%22%5BClinical%20Features%5D%20OR%20863170%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866404"><div><strong>Antiphospholipid antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866404</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.">C4019436</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of circulating autoantibodies to phospholipids.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866404">Feature record</a> | <a href="/medgen?term=%22Antiphospholipid%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%20866404%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1642955"><div><strong>Increased proportion of HLA DR+ T cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642955</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.">C4703376</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642955">Feature record</a> | <a href="/medgen?term=%22Increased%20proportion%20of%20HLA%20DR%2B%20T%20cells%22%5BClinical%20Features%5D%20OR%201642955%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_22587"><div><strong>Urticaria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>22587</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.">C0042109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/22587">Feature record</a> | <a href="/medgen?term=%22Urticaria%22%5BClinical%20Features%5D%20OR%2022587%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_105458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coombs-positive hemolytic anemia</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></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_12054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">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_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</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_116117" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anti-smooth muscle antibody positivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395147" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Antineutrophil antibody positivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101792" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Antinuclear antibody positivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866404" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Antiphospholipid antibody positivity</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_116621" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune thrombocytopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395144" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic noninfectious lymphadenopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_349066" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased lymphocyte apoptosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells</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_863170" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Follicular hyperplasia</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_347032" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating IgG concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating IgM level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1642955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased proportion of HLA DR+ T cells</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_137947" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neutropenia in presence of anti-neutropil antibodies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_349070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platelet antibody positive</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334744" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced delayed hypersensitivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56226" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rheumatoid factor positive</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</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_22587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urticaria</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN301239[DISCUI]&test_type=Clinical" ref="ncbi_uid=985772">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1108/" ref="ncbi_uid=985772">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=985772" ref="ncbi_uid=985772">V</a></span></span><span class="TLline"><a href="/medgen/985772" ref="tree=GTR&ncbi_uid=985772&link_uid=985772" title="View MedGen record for 'Autoimmune lymphoproliferative syndrome'">Autoimmune lymphoproliferative syndrome</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1328840[DISCUI]&test_type=Clinical" ref="ncbi_uid=231300">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=231300" target="_blank" href="/omim/601859">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1108/" ref="ncbi_uid=231300">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=231300" ref="ncbi_uid=231300">V</a></span></span><span class="TLline">Autoimmune lymphoproliferative syndrome type 1</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866121[DISCUI]&test_type=Clinical" ref="ncbi_uid=356454">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356454" target="_blank" href="/omim/601859">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/356454" ref="tree=GTR&ncbi_uid=356454&link_uid=356454" title="View MedGen record for 'Autoimmune lymphoproliferative syndrome type 1, autosomal recessive'">Autoimmune lymphoproliferative syndrome type 1, autosomal recessive</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866119[DISCUI]&test_type=Clinical" ref="ncbi_uid=356453">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356453" target="_blank" href="/omim/134637">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356453" ref="ncbi_uid=356453">V</a></span></span><span class="TLline"><a href="/medgen/356453" ref="tree=GTR&ncbi_uid=356453&link_uid=356453" title="View MedGen record for 'Autoimmune lymphoproliferative syndrome, type 1a'">Autoimmune lymphoproliferative syndrome, type 1a</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866120[DISCUI]&test_type=Clinical" ref="ncbi_uid=356158">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356158" target="_blank" href="/omim/134638">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356158" ref="ncbi_uid=356158">V</a></span></span><span class="TLline"><a href="/medgen/356158" ref="tree=GTR&ncbi_uid=356158&link_uid=356158" title="View MedGen record for 'AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB'">AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2674723[DISCUI]&test_type=Clinical" ref="ncbi_uid=382434">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382434" target="_blank" href="/omim/614470">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382434" ref="ncbi_uid=382434">V</a></span></span><span class="TLline"><a href="/medgen/382434" ref="tree=GTR&ncbi_uid=382434&link_uid=382434" title="View MedGen record for 'Autoimmune lymphoproliferative syndrome type 4'">Autoimmune lymphoproliferative syndrome type 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858968[DISCUI]&test_type=Clinical" ref="ncbi_uid=349065">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349065" target="_blank" href="/omim/601762">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1108/" ref="ncbi_uid=349065">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349065" ref="ncbi_uid=349065">V</a></span></span><span class="TLline"><a href="/medgen/349065" ref="tree=GTR&ncbi_uid=349065&link_uid=349065" title="View MedGen record for 'Autoimmune lymphoproliferative syndrome type 2A'">Autoimmune lymphoproliferative syndrome type 2A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846545[DISCUI]&test_type=Clinical" ref="ncbi_uid=339548">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339548" target="_blank" href="/omim/601763">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339548" ref="ncbi_uid=339548">V</a></span></span><span class="TLline"><a href="/medgen/339548" ref="tree=GTR&ncbi_uid=339548&link_uid=339548" title="View MedGen record for 'Autoimmune lymphoproliferative syndrome type 2B'">Autoimmune lymphoproliferative syndrome type 2B</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/232638" ref="tree=MeSH" title="MedGen record for Immune System and Related Disorders">Immune System and Related Disorders</a></span><ul><li><span class="TLline"><a href="/medgen/5759" ref="tree=MeSH" title="MedGen record for Immune system disorder">Immune system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/2135" ref="tree=MeSH" title="MedGen record for Autoimmune disease">Autoimmune disease</a></span><ul><li><span class="matched_ds">Autoimmune lymphoproliferative syndrome type 1</span><ul><li><span class="TLline"><a href="/medgen/356454" ref="tree=MeSH" title="MedGen record for Autoimmune lymphoproliferative syndrome type 1, autosomal recessive">Autoimmune lymphoproliferative syndrome type 1, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/356453" ref="tree=MeSH" title="MedGen record for Autoimmune lymphoproliferative syndrome, type 1a">Autoimmune lymphoproliferative syndrome, type 1a</a></span></li><li><span class="TLline"><a href="/medgen/356158" ref="tree=MeSH" title="MedGen record for AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB">AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB</a></span></li><li><span class="TLline"><a href="/medgen/274327" ref="tree=MeSH" title="MedGen record for Type 3 autoimmune lymphoproliferative syndrome">Type 3 autoimmune lymphoproliferative syndrome</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=3468&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Autoimmune lymphoproliferative syndrome type 1</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/10090885">Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jackson CE,
|
||
Fischer RE,
|
||
Hsu AP,
|
||
Anderson SM,
|
||
Choi Y,
|
||
Wang J,
|
||
Dale JK,
|
||
Fleisher TA,
|
||
Middelton LA,
|
||
Sneller MC,
|
||
Lenardo MJ,
|
||
Straus SE,
|
||
Puck JM</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1999 Apr;64(4):1002-14.
|
||
doi: 10.1086/302333.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10090885" target="_blank">10090885</a><a href="/pmc/articles/PMC1377824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(autoimmune%20lymphoproliferative%20syndrome%20type%201)%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 (1)</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/34136918">Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andrews A,
|
||
Maharaj A,
|
||
Cottrell E,
|
||
Chatterjee S,
|
||
Shah P,
|
||
Denvir L,
|
||
Dumic K,
|
||
Bossowski A,
|
||
Mushtaq T,
|
||
Vukovic R,
|
||
Didi M,
|
||
Shaw N,
|
||
Metherell LA,
|
||
Savage MO,
|
||
Storr HL</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2021 Oct 21;106(11):e4716-e4733.
|
||
doi: 10.1210/clinem/dgab437.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34136918" target="_blank">34136918</a><a href="/pmc/articles/PMC8530715" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30837156">Rare diseases that mimic Systemic Lupus Erythematosus (Lupus mimickers).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chasset F,
|
||
Richez C,
|
||
Martin T,
|
||
Belot A,
|
||
Korganow AS,
|
||
Arnaud L</span><br />
|
||
<span class="medgenPMjournal">Joint Bone Spine</span>
|
||
2019 Mar;86(2):165-171.
|
||
Epub 2018 Oct 26
|
||
doi: 10.1016/j.jbspin.2018.10.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30837156" target="_blank">30837156</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27614846">Cellular and molecular mechanisms of immune dysregulation and autoimmunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azizi G,
|
||
Pouyani MR,
|
||
Abolhassani H,
|
||
Sharifi L,
|
||
Dizaji MZ,
|
||
Mohammadi J,
|
||
Mirshafiey A,
|
||
Aghamohammadi A</span><br />
|
||
<span class="medgenPMjournal">Cell Immunol</span>
|
||
2016 Dec;310:14-26.
|
||
Epub 2016 Aug 27
|
||
doi: 10.1016/j.cellimm.2016.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27614846" target="_blank">27614846</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24418294">Prevalence of mixed cryoglobulinaemia syndrome and circulating cryoglobulins in a population-based survey: the Origgio study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Monti G,
|
||
Saccardo F,
|
||
Castelnovo L,
|
||
Novati P,
|
||
Sollima S,
|
||
Riva A,
|
||
Sarzi-Puttini P,
|
||
Quartuccio L,
|
||
De Vita S,
|
||
Galli M</span><br />
|
||
<span class="medgenPMjournal">Autoimmun Rev</span>
|
||
2014 Jun;13(6):609-14.
|
||
Epub 2014 Jan 10
|
||
doi: 10.1016/j.autrev.2013.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24418294" target="_blank">24418294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16373224">The epidemiology of non-Hodgkin lymphoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grulich AE,
|
||
Vajdic CM</span><br />
|
||
<span class="medgenPMjournal">Pathology</span>
|
||
2005 Dec;37(6):409-19.
|
||
doi: 10.1080/00313020500370192.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16373224" target="_blank">16373224</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoimmune%20lymphoproliferative%20syndrome%20type%201%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 (21)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31980238">After 95 years, it's time to eRASe JMML.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meynier S,
|
||
Rieux-Laucat F</span><br />
|
||
<span class="medgenPMjournal">Blood Rev</span>
|
||
2020 Sep;43:100652.
|
||
Epub 2020 Jan 16
|
||
doi: 10.1016/j.blre.2020.100652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31980238" target="_blank">31980238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21452084">Recent advances in the concept and diagnosis of autoimmune pancreatitis and IgG4-related disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okazaki K,
|
||
Uchida K,
|
||
Koyabu M,
|
||
Miyoshi H,
|
||
Takaoka M</span><br />
|
||
<span class="medgenPMjournal">J Gastroenterol</span>
|
||
2011 Mar;46(3):277-88.
|
||
Epub 2011 Mar 11
|
||
doi: 10.1007/s00535-011-0386-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21452084" target="_blank">21452084</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20814208">Autoimmune pancreatitis--recent advances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Novotný I,
|
||
Díte P,
|
||
Lata J,
|
||
Nechutová H,
|
||
Kianicka B</span><br />
|
||
<span class="medgenPMjournal">Dig Dis</span>
|
||
2010;28(2):334-8.
|
||
Epub 2010 Sep 1
|
||
doi: 10.1159/000319410.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20814208" target="_blank">20814208</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18796155">Mixed cryoglobulinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferri C</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2008 Sep 16;3:25.
|
||
doi: 10.1186/1750-1172-3-25.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18796155" target="_blank">18796155</a><a href="/pmc/articles/PMC2569912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12161590">Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wildin RS,
|
||
Smyk-Pearson S,
|
||
Filipovich AH</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2002 Aug;39(8):537-45.
|
||
doi: 10.1136/jmg.39.8.537.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12161590" target="_blank">12161590</a><a href="/pmc/articles/PMC1735203" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoimmune%20lymphoproliferative%20syndrome%20type%201%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (33)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36059007">Drug rash with eosinophilia and systemic symptoms syndrome masquerading as a lymphoproliferative disorder in a young adult on immunosuppressive therapy for rheumatoid arthritis: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hyser E</span><br />
|
||
<span class="medgenPMjournal">J Med Case Rep</span>
|
||
2022 Sep 5;16(1):336.
|
||
doi: 10.1186/s13256-022-03526-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36059007" target="_blank">36059007</a><a href="/pmc/articles/PMC9442981" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34187243">Sirolimus is effective in autoimmune lymphoproliferative syndrome-type III: A pedigree case report with homozygous variation PRKCD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gu H,
|
||
Chen Z,
|
||
Ma J,
|
||
Wang J,
|
||
Zhang R,
|
||
Wu R,
|
||
Wang T</span><br />
|
||
<span class="medgenPMjournal">Int J Immunopathol Pharmacol</span>
|
||
2021 Jan-Dec;35:20587384211025934.
|
||
doi: 10.1177/20587384211025934.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34187243" target="_blank">34187243</a><a href="/pmc/articles/PMC8252363" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24418294">Prevalence of mixed cryoglobulinaemia syndrome and circulating cryoglobulins in a population-based survey: the Origgio study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Monti G,
|
||
Saccardo F,
|
||
Castelnovo L,
|
||
Novati P,
|
||
Sollima S,
|
||
Riva A,
|
||
Sarzi-Puttini P,
|
||
Quartuccio L,
|
||
De Vita S,
|
||
Galli M</span><br />
|
||
<span class="medgenPMjournal">Autoimmun Rev</span>
|
||
2014 Jun;13(6):609-14.
|
||
Epub 2014 Jan 10
|
||
doi: 10.1016/j.autrev.2013.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24418294" target="_blank">24418294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18796155">Mixed cryoglobulinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferri C</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2008 Sep 16;3:25.
|
||
doi: 10.1186/1750-1172-3-25.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18796155" target="_blank">18796155</a><a href="/pmc/articles/PMC2569912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11918552">Reversion of autoimmune lymphoproliferative syndrome with an antimalarial drug: preliminary results of a clinical cohort study and molecular observations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Werff Ten Bosch J,
|
||
Schotte P,
|
||
Ferster A,
|
||
Azzi N,
|
||
Boehler T,
|
||
Laurey G,
|
||
Arola M,
|
||
Demanet C,
|
||
Beyaert R,
|
||
Thielemans K,
|
||
Otten J</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2002 Apr;117(1):176-88.
|
||
doi: 10.1046/j.1365-2141.2002.03357.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11918552" target="_blank">11918552</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoimmune%20lymphoproliferative%20syndrome%20type%201%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34136918">Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andrews A,
|
||
Maharaj A,
|
||
Cottrell E,
|
||
Chatterjee S,
|
||
Shah P,
|
||
Denvir L,
|
||
Dumic K,
|
||
Bossowski A,
|
||
Mushtaq T,
|
||
Vukovic R,
|
||
Didi M,
|
||
Shaw N,
|
||
Metherell LA,
|
||
Savage MO,
|
||
Storr HL</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2021 Oct 21;106(11):e4716-e4733.
|
||
doi: 10.1210/clinem/dgab437.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34136918" target="_blank">34136918</a><a href="/pmc/articles/PMC8530715" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30837156">Rare diseases that mimic Systemic Lupus Erythematosus (Lupus mimickers).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chasset F,
|
||
Richez C,
|
||
Martin T,
|
||
Belot A,
|
||
Korganow AS,
|
||
Arnaud L</span><br />
|
||
<span class="medgenPMjournal">Joint Bone Spine</span>
|
||
2019 Mar;86(2):165-171.
|
||
Epub 2018 Oct 26
|
||
doi: 10.1016/j.jbspin.2018.10.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30837156" target="_blank">30837156</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20814208">Autoimmune pancreatitis--recent advances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Novotný I,
|
||
Díte P,
|
||
Lata J,
|
||
Nechutová H,
|
||
Kianicka B</span><br />
|
||
<span class="medgenPMjournal">Dig Dis</span>
|
||
2010;28(2):334-8.
|
||
Epub 2010 Sep 1
|
||
doi: 10.1159/000319410.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20814208" target="_blank">20814208</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18796155">Mixed cryoglobulinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferri C</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2008 Sep 16;3:25.
|
||
doi: 10.1186/1750-1172-3-25.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18796155" target="_blank">18796155</a><a href="/pmc/articles/PMC2569912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17764063">Sjögren's Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Papiris SA,
|
||
Tsonis IA,
|
||
Moutsopoulos HM</span><br />
|
||
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
|
||
2007 Aug;28(4):459-71.
|
||
doi: 10.1055/s-2007-985667.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17764063" target="_blank">17764063</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoimmune%20lymphoproliferative%20syndrome%20type%201%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 (16)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38627844">Monoallelic KRAS (G13C) mutation triggers dysregulated expansion in induced pluripotent stem cell-derived hematopoietic progenitor cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin HT,
|
||
Takagi M,
|
||
Kubara K,
|
||
Yamazaki K,
|
||
Michikawa F,
|
||
Okumura T,
|
||
Naruto T,
|
||
Morio T,
|
||
Miyazaki K,
|
||
Taniguchi H,
|
||
Otsu M</span><br />
|
||
<span class="medgenPMjournal">Stem Cell Res Ther</span>
|
||
2024 Apr 16;15(1):106.
|
||
doi: 10.1186/s13287-024-03723-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38627844" target="_blank">38627844</a><a href="/pmc/articles/PMC11021011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15958855">Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maric I,
|
||
Pittaluga S,
|
||
Dale JK,
|
||
Niemela JE,
|
||
Delsol G,
|
||
Diment J,
|
||
Rosai J,
|
||
Raffeld M,
|
||
Puck JM,
|
||
Straus SE,
|
||
Jaffe ES</span><br />
|
||
<span class="medgenPMjournal">Am J Surg Pathol</span>
|
||
2005 Jul;29(7):903-11.
|
||
doi: 10.1097/01.pas.0000157997.61177.08.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15958855" target="_blank">15958855</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12697265">Role of inherited defects decreasing Fas function in autoimmunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dianzani U,
|
||
Chiocchetti A,
|
||
Ramenghi U</span><br />
|
||
<span class="medgenPMjournal">Life Sci</span>
|
||
2003 May 9;72(25):2803-24.
|
||
doi: 10.1016/s0024-3205(03)00196-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12697265" target="_blank">12697265</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12161590">Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wildin RS,
|
||
Smyk-Pearson S,
|
||
Filipovich AH</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2002 Aug;39(8):537-45.
|
||
doi: 10.1136/jmg.39.8.537.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12161590" target="_blank">12161590</a><a href="/pmc/articles/PMC1735203" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11397650">Mutations in apoptosis genes: a pathogenetic factor for human disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Müllauer L,
|
||
Gruber P,
|
||
Sebinger D,
|
||
Buch J,
|
||
Wohlfart S,
|
||
Chott A</span><br />
|
||
<span class="medgenPMjournal">Mutat Res</span>
|
||
2001 Jul;488(3):211-31.
|
||
doi: 10.1016/s1383-5742(01)00057-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11397650" target="_blank">11397650</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoimmune%20lymphoproliferative%20syndrome%20type%201%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 (13)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/31057537">A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riaz IB,
|
||
Faridi W,
|
||
Patnaik MM,
|
||
Abraham RS</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2019;10:777.
|
||
Epub 2019 Apr 16
|
||
doi: 10.3389/fimmu.2019.00777.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31057537" target="_blank">31057537</a><a href="/pmc/articles/PMC6477084" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autoimmune%20lymphoproliferative%20syndrome%20type%201%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</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=C1328840%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (23)</a></li>
|
||
<li><a href="/gtr/tests?term=C1328840%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1328840%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1328840%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (35)</a></li>
|
||
<li><a href="/gtr/tests?term=C1328840%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1328840%5bDISCUI%5d" target="_blank">See all (44)</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>
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||
<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=601859" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Autoimmune%20lymphoproliferative%20syndrome%20type%201" 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>
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||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(autoimmune%20lymphoproliferative%20syndrome%20type%201)%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></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=134637%20134638" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=355[geneid]" target="_blank">View FAS variations in ClinVar</a></li><li><a href="/clinvar/?term=356[geneid]" target="_blank">View FASLG variations in ClinVar</a></li><li><a href="/nuccore/163965392,329299085" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=601859" 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="https://www.malacards.org/card/autoimmune_lymphoproliferative_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Autoimmune%20lymphoproliferative%20syndrome%20type%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/autoimmune-lymphoproliferative-syndrome" target="_blank">MedlinePlusGenetics (GHR)</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/20301287" 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=Autoimmune%20lymphoproliferative%20syndrome%20type%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Autoimmune%20lymphoproliferative%20syndrome%20type%201%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=231300" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=231300" ref="log$=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=C1328840[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1328840[DISCUI]&test_type=Clinical" ref="log$=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=231300" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=231300" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=231300" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=231300" ref="log$=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=231300" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=231300" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=231300" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=231300" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=231300" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
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|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
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|
||
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||
</div>
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||
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