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<meta name="keywords" content="C5562070, def6, disease or syndrome, imd87, immunodeficiency 87 and autoimmunity, immunodeficiency due to def6 deficiency, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Immunodeficiency-87 and autoimmunity (IMD87) is an autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation (summary by Serwas et al., 2019 and Fournier et al., 2021)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1794280
|
||
ConceptID=C5562070
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Immunodeficiency 87 and autoimmunity<span class="h1sub">(IMD87)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794280</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5562070</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>IMD87; IMMUNODEFICIENCY 87 AND AUTOIMMUNITY</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="DEF6 - ID: 50619 - NCBI Gene" href="/gene/50619" class="medgenPMinfo">DEF6</a> (6p21.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030457" target="_blank">MONDO:0030457</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619573" target="_blank">619573</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Immunodeficiency-87 and autoimmunity (IMD87) is an autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation (summary by Serwas et al., 2019 and Fournier et al., 2021). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_9283"><div><strong>Classic Hodgkin lymphoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9283</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.">C0019829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9283">Feature record</a> | <a href="/medgen?term=%22Classic%20Hodgkin%20lymphoma%22%5BClinical%20Features%5D%20OR%209283%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2880"><div><strong>Primary dilated cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2880</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.">C0007193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2880">Feature record</a> | <a href="/medgen?term=%22Primary%20dilated%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202880%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6753"><div><strong>Atrial septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6753</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.">C0018817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6753">Feature record</a> | <a href="/medgen?term=%22Atrial%20septal%20defect%22%5BClinical%20Features%5D%20OR%206753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</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.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56230"><div><strong>Third degree atrioventricular block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56230</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.">C0151517</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56230">Feature record</a> | <a href="/medgen?term=%22Third%20degree%20atrioventricular%20block%22%5BClinical%20Features%5D%20OR%2056230%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_807328"><div><strong>Biventricular hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>807328</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.">C0281788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thickening of the heart walls in both ventricles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/807328">Feature record</a> | <a href="/medgen?term=%22Biventricular%20hypertrophy%22%5BClinical%20Features%5D%20OR%20807328%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_235591"><div><strong>Atrioventricular canal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235591</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.">C1389016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A defect of the atrioventricular septum of the heart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235591">Feature record</a> | <a href="/medgen?term=%22Atrioventricular%20canal%20defect%22%5BClinical%20Features%5D%20OR%20235591%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_425404"><div><strong>Pulmonary arterial hypertension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>425404</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.">C2973725</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/425404">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20arterial%20hypertension%22%5BClinical%20Features%5D%20OR%20425404%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</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.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65920"><div><strong>Small for gestational age</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65920</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.">C0235991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65920">Feature record</a> | <a href="/medgen?term=%22Small%20for%20gestational%20age%22%5BClinical%20Features%5D%20OR%2065920%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</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.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_416"><div><strong>Ascites</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416</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.">C0003962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416">Feature record</a> | <a href="/medgen?term=%22Ascites%22%5BClinical%20Features%5D%20OR%20416%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_925"><div><strong>Cholestasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>925</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.">C0008370</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of bile flow due to obstruction in bile ducts.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/925">Feature record</a> | <a href="/medgen?term=%22Cholestasis%22%5BClinical%20Features%5D%20OR%20925%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42157"><div><strong>Atrophic gastritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42157</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.">C0017154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42157">Feature record</a> | <a href="/medgen?term=%22Atrophic%20gastritis%22%5BClinical%20Features%5D%20OR%2042157%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>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<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_43987"><div><strong>Jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43987</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.">C0022346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43987">Feature record</a> | <a href="/medgen?term=%22Jaundice%22%5BClinical%20Features%5D%20OR%2043987%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88444"><div><strong>Liver failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88444</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.">C0085605</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/88444">Feature record</a> | <a href="/medgen?term=%22Liver%20failure%22%5BClinical%20Features%5D%20OR%2088444%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75635"><div><strong>Secretory diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75635</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.">C0267557</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75635">Feature record</a> | <a href="/medgen?term=%22Secretory%20diarrhea%22%5BClinical%20Features%5D%20OR%2075635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105440"><div><strong>Necrotizing enterocolitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105440</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.">C0520459</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105440">Feature record</a> | <a href="/medgen?term=%22Necrotizing%20enterocolitis%22%5BClinical%20Features%5D%20OR%20105440%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154306"><div><strong>Villous atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154306</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.">C0554101</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The enteric villi are atrophic or absent.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154306">Feature record</a> | <a href="/medgen?term=%22Villous%20atrophy%22%5BClinical%20Features%5D%20OR%20154306%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_640420"><div><strong>Perianal dermatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>640420</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.">C0554478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a rash (change of color and texture) of the perianal skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/640420">Feature record</a> | <a href="/medgen?term=%22Perianal%20dermatitis%22%5BClinical%20Features%5D%20OR%20640420%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_398225"><div><strong>Hepatic steatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398225</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.">C2711227</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Steatosis is a term used to denote lipid accumulation within hepatocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/398225">Feature record</a> | <a href="/medgen?term=%22Hepatic%20steatosis%22%5BClinical%20Features%5D%20OR%20398225%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1814229"><div><strong>Increased fecal calprotectin level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1814229</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.">C5676656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of calprotectin in the feces.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1814229">Feature record</a> | <a href="/medgen?term=%22Increased%20fecal%20calprotectin%20level%22%5BClinical%20Features%5D%20OR%201814229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1916"><div><strong>Hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1916</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.">C0002878</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of anemia caused by premature destruction of red blood cells (hemolysis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1916">Feature record</a> | <a href="/medgen?term=%22Hemolytic%20anemia%22%5BClinical%20Features%5D%20OR%201916%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10805"><div><strong>Pleural effusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10805</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.">C0032227</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an excessive amount of fluid in the pleural cavity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10805">Feature record</a> | <a href="/medgen?term=%22Pleural%20effusion%22%5BClinical%20Features%5D%20OR%2010805%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_7418"><div><strong>Lymphopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7418</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0024312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced number of lymphocytes in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7418">Feature record</a> | <a href="/medgen?term=%22Lymphopenia%22%5BClinical%20Features%5D%20OR%207418%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48626"><div><strong>Sepsis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48626</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036690</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Systemic inflammatory response to infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48626">Feature record</a> | <a href="/medgen?term=%22Sepsis%22%5BClinical%20Features%5D%20OR%2048626%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66724"><div><strong>Cervical lymphadenopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66724</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.">C0235592</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlarged lymph nodes in the neck.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66724">Feature record</a> | <a href="/medgen?term=%22Cervical%20lymphadenopathy%22%5BClinical%20Features%5D%20OR%2066724%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163125"><div><strong>Decreased CD4:CD8 ratio</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163125</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.">C0853905</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163125">Feature record</a> | <a href="/medgen?term=%22Decreased%20CD4%3ACD8%20ratio%22%5BClinical%20Features%5D%20OR%20163125%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332357"><div><strong>Recurrent viral infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332357</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.">C1837066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332357">Feature record</a> | <a href="/medgen?term=%22Recurrent%20viral%20infections%22%5BClinical%20Features%5D%20OR%20332357%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334943"><div><strong>Recurrent bacterial infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334943</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.">C1844383</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334943">Feature record</a> | <a href="/medgen?term=%22Recurrent%20bacterial%20infections%22%5BClinical%20Features%5D%20OR%20334943%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336166"><div><strong>Recurrent fungal infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336166</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.">C1844384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336166">Feature record</a> | <a href="/medgen?term=%22Recurrent%20fungal%20infections%22%5BClinical%20Features%5D%20OR%20336166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_767466"><div><strong>Persistent EBV viremia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767466</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.">C3554552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent presence of Epstein-Barr virus in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767466">Feature record</a> | <a href="/medgen?term=%22Persistent%20EBV%20viremia%22%5BClinical%20Features%5D%20OR%20767466%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1613254"><div><strong>Abnormal lymphocyte proliferation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1613254</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.">C4531169</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1613254">Feature record</a> | <a href="/medgen?term=%22Abnormal%20lymphocyte%20proliferation%22%5BClinical%20Features%5D%20OR%201613254%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1634535"><div><strong>Severe cytomegalovirus infection</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634535</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.">C4703481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unusually severe infection by cytomegalovirus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634535">Feature record</a> | <a href="/medgen?term=%22Severe%20cytomegalovirus%20infection%22%5BClinical%20Features%5D%20OR%201634535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1698933"><div><strong>Decreased proportion of CD4-positive T cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1698933</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.">C5139203</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1698933">Feature record</a> | <a href="/medgen?term=%22Decreased%20proportion%20of%20CD4-positive%20T%20cells%22%5BClinical%20Features%5D%20OR%201698933%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1696202"><div><strong>Perinuclear antineutrophil antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1696202</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.">C5139209</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 proteins predominantly expressed in perinuclear region of neutrophils.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Perinuclear%20antineutrophil%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%201696202%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1696853"><div><strong>Anticardiolipin IgG antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1696853</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.">C5209232</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of circulating IgG autoantibodies to cardiolipin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Anticardiolipin%20IgG%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%201696853%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5712"><div><strong>Hypokalemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5712</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.">C0020621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased potassium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5712">Feature record</a> | <a href="/medgen?term=%22Hypokalemia%22%5BClinical%20Features%5D%20OR%205712%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101794"><div><strong>Anasarca</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101794</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.">C0151603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101794">Feature record</a> | <a href="/medgen?term=%22Anasarca%22%5BClinical%20Features%5D%20OR%20101794%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57497"><div><strong>Elevated circulating aspartate aminotransferase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57497</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.">C0151904</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57497">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20aspartate%20aminotransferase%20concentration%22%5BClinical%20Features%5D%20OR%2057497%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57740"><div><strong>Elevated circulating alanine aminotransferase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57740</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.">C0151905</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally high concentration in the circulation of alanine aminotransferase (ALT).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57740">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20alanine%20aminotransferase%20concentration%22%5BClinical%20Features%5D%20OR%2057740%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65117"><div><strong>Metabolic acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65117</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.">C0220981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65117">Feature record</a> | <a href="/medgen?term=%22Metabolic%20acidosis%22%5BClinical%20Features%5D%20OR%2065117%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_167238"><div><strong>Hypertriglyceridemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167238</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.">C0813230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase in the level of triglycerides in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167238">Feature record</a> | <a href="/medgen?term=%22Hypertriglyceridemia%22%5BClinical%20Features%5D%20OR%20167238%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811468"><div><strong>Recurrent fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811468</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.">C3714772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Periodic (episodic or recurrent) bouts of fever.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811468">Feature record</a> | <a href="/medgen?term=%22Recurrent%20fever%22%5BClinical%20Features%5D%20OR%20811468%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892906"><div><strong>Elevated circulating C-reactive protein concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892906</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.">C4023452</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal elevation of the C-reactive protein level in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892906">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20C-reactive%20protein%20concentration%22%5BClinical%20Features%5D%20OR%20892906%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1370086"><div><strong>Elevated gamma-glutamyltransferase level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1370086</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.">C4476869</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1370086">Feature record</a> | <a href="/medgen?term=%22Elevated%20gamma-glutamyltransferase%20level%22%5BClinical%20Features%5D%20OR%201370086%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_756015"><div><strong>Cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756015</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.">C2981150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen?term=%22Cleft%20palate%22%5BClinical%20Features%5D%20OR%20756015%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8826"><div><strong>Premature rupture of membranes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8826</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.">C0015944</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8826">Feature record</a> | <a href="/medgen?term=%22Premature%20rupture%20of%20membranes%22%5BClinical%20Features%5D%20OR%208826%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_86974"><div><strong>Oligohydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86974</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.">C0079924</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished amniotic fluid volume in pregnancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/86974">Feature record</a> | <a href="/medgen?term=%22Oligohydramnios%22%5BClinical%20Features%5D%20OR%2086974%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82844"><div><strong>Inversion of nipple</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82844</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.">C0269269</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of nipples that instead of pointing outward are retracted inwards.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82844">Feature record</a> | <a href="/medgen?term=%22Inversion%20of%20nipple%22%5BClinical%20Features%5D%20OR%2082844%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</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.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%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_1916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_756015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft palate</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anasarca</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating alanine aminotransferase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating aspartate aminotransferase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating C-reactive protein concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1370086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated gamma-glutamyltransferase level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_167238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertriglyceridemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypokalemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65117" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metabolic acidosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811468" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent fever</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_86974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oligohydramnios</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8826" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature rupture of membranes</a></span></li></ul></li><li><span class="TLline">Abnormality of the breast</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inversion of nipple</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_6753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial septal defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_235591" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrioventricular canal defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_807328" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biventricular hypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2880" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary dilated cardiomyopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_425404" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary arterial hypertension</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56230" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Third degree atrioventricular block</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_416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ascites</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrophic gastritis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_398225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic steatosis</a></span></li><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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1814229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased fecal calprotectin level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jaundice</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88444" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Liver failure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Necrotizing enterocolitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_640420" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perianal dermatitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secretory diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154306" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Villous atrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</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_1613254" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal lymphocyte proliferation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1696853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anticardiolipin IgG 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_66724" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cervical lymphadenopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased CD4:CD8 ratio</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1698933" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased proportion of CD4-positive T cells</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7418" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1696202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perinuclear antineutrophil antibody positivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_767466" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Persistent EBV viremia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent bacterial infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent fungal infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent viral infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48626" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sepsis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1634535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe cytomegalovirus infection</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pleural effusion</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small for gestational age</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9283" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Classic Hodgkin lymphoma</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38579284">Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vallée TC,
|
||
Glasmacher JS,
|
||
Buchner H,
|
||
Arkwright PD,
|
||
Behrends U,
|
||
Bondarenko A,
|
||
Browning MJ,
|
||
Buchbinder D,
|
||
Cattoni A,
|
||
Chernyshova L,
|
||
Ciznar P,
|
||
Cole T,
|
||
Czogała W,
|
||
Dueckers G,
|
||
Edgar JDM,
|
||
Erbey F,
|
||
Fasth A,
|
||
Ferrua F,
|
||
Formankova R,
|
||
Gambineri E,
|
||
Gennery AR,
|
||
Goldman FD,
|
||
Gonzalez-Granado LI,
|
||
Heilmann C,
|
||
Heiskanen-Kosma T,
|
||
Juntti H,
|
||
Kainulainen L,
|
||
Kanegane H,
|
||
Karaca NE,
|
||
Kilic SS,
|
||
Klein C,
|
||
Kołtan S,
|
||
Kondratenko I,
|
||
Meyts I,
|
||
Nasrullayeva GM,
|
||
Notarangelo LD,
|
||
Pasic S,
|
||
Pellier I,
|
||
Pignata C,
|
||
Misbah S,
|
||
Schulz A,
|
||
Segundo GR,
|
||
Shcherbina A,
|
||
Slatter M,
|
||
Sokolic R,
|
||
Soler-Palacin P,
|
||
Stepensky P,
|
||
van Montfrans JM,
|
||
Ryhänen S,
|
||
Wolska-Kuśnierz B,
|
||
Ziegler JB,
|
||
Zhao X,
|
||
Aiuti A,
|
||
Ochs HD,
|
||
Albert MH</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2024 Jun 13;143(24):2504-2516.
|
||
doi: 10.1182/blood.2023021411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38579284" target="_blank">38579284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37935260">JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fischer M,
|
||
Olbrich P,
|
||
Hadjadj J,
|
||
Aumann V,
|
||
Bakhtiar S,
|
||
Barlogis V,
|
||
von Bismarck P,
|
||
Bloomfield M,
|
||
Booth C,
|
||
Buddingh EP,
|
||
Cagdas D,
|
||
Castelle M,
|
||
Chan AY,
|
||
Chandrakasan S,
|
||
Chetty K,
|
||
Cougoul P,
|
||
Crickx E,
|
||
Dara J,
|
||
Deyà-Martínez A,
|
||
Farmand S,
|
||
Formankova R,
|
||
Gennery AR,
|
||
Gonzalez-Granado LI,
|
||
Hagin D,
|
||
Hanitsch LG,
|
||
Hanzlikovà J,
|
||
Hauck F,
|
||
Ivorra-Cortés J,
|
||
Kisand K,
|
||
Kiykim A,
|
||
Körholz J,
|
||
Leahy TR,
|
||
van Montfrans J,
|
||
Nademi Z,
|
||
Nelken B,
|
||
Parikh S,
|
||
Plado S,
|
||
Ramakers J,
|
||
Redlich A,
|
||
Rieux-Laucat F,
|
||
Rivière JG,
|
||
Rodina Y,
|
||
Júnior PR,
|
||
Salou S,
|
||
Schuetz C,
|
||
Shcherbina A,
|
||
Slatter MA,
|
||
Touzot F,
|
||
Unal E,
|
||
Lankester AC,
|
||
Burns S,
|
||
Seppänen MRJ,
|
||
Neth O,
|
||
Albert MH,
|
||
Ehl S,
|
||
Neven B,
|
||
Speckmann C</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2024 Jan;153(1):275-286.e18.
|
||
Epub 2023 Nov 5
|
||
doi: 10.1016/j.jaci.2023.10.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37935260" target="_blank">37935260</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31970725">Advances in the diagnosis and management of pulmonary aspergillosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gao Y,
|
||
Soubani A</span><br />
|
||
<span class="medgenPMjournal">Adv Respir Med</span>
|
||
2019;87(6):231-243.
|
||
doi: 10.5603/ARM.2019.0061.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31970725" target="_blank">31970725</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2087%20and%20autoimmunity)%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 (6)</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/38579284">Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vallée TC,
|
||
Glasmacher JS,
|
||
Buchner H,
|
||
Arkwright PD,
|
||
Behrends U,
|
||
Bondarenko A,
|
||
Browning MJ,
|
||
Buchbinder D,
|
||
Cattoni A,
|
||
Chernyshova L,
|
||
Ciznar P,
|
||
Cole T,
|
||
Czogała W,
|
||
Dueckers G,
|
||
Edgar JDM,
|
||
Erbey F,
|
||
Fasth A,
|
||
Ferrua F,
|
||
Formankova R,
|
||
Gambineri E,
|
||
Gennery AR,
|
||
Goldman FD,
|
||
Gonzalez-Granado LI,
|
||
Heilmann C,
|
||
Heiskanen-Kosma T,
|
||
Juntti H,
|
||
Kainulainen L,
|
||
Kanegane H,
|
||
Karaca NE,
|
||
Kilic SS,
|
||
Klein C,
|
||
Kołtan S,
|
||
Kondratenko I,
|
||
Meyts I,
|
||
Nasrullayeva GM,
|
||
Notarangelo LD,
|
||
Pasic S,
|
||
Pellier I,
|
||
Pignata C,
|
||
Misbah S,
|
||
Schulz A,
|
||
Segundo GR,
|
||
Shcherbina A,
|
||
Slatter M,
|
||
Sokolic R,
|
||
Soler-Palacin P,
|
||
Stepensky P,
|
||
van Montfrans JM,
|
||
Ryhänen S,
|
||
Wolska-Kuśnierz B,
|
||
Ziegler JB,
|
||
Zhao X,
|
||
Aiuti A,
|
||
Ochs HD,
|
||
Albert MH</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2024 Jun 13;143(24):2504-2516.
|
||
doi: 10.1182/blood.2023021411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38579284" target="_blank">38579284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37935260">JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fischer M,
|
||
Olbrich P,
|
||
Hadjadj J,
|
||
Aumann V,
|
||
Bakhtiar S,
|
||
Barlogis V,
|
||
von Bismarck P,
|
||
Bloomfield M,
|
||
Booth C,
|
||
Buddingh EP,
|
||
Cagdas D,
|
||
Castelle M,
|
||
Chan AY,
|
||
Chandrakasan S,
|
||
Chetty K,
|
||
Cougoul P,
|
||
Crickx E,
|
||
Dara J,
|
||
Deyà-Martínez A,
|
||
Farmand S,
|
||
Formankova R,
|
||
Gennery AR,
|
||
Gonzalez-Granado LI,
|
||
Hagin D,
|
||
Hanitsch LG,
|
||
Hanzlikovà J,
|
||
Hauck F,
|
||
Ivorra-Cortés J,
|
||
Kisand K,
|
||
Kiykim A,
|
||
Körholz J,
|
||
Leahy TR,
|
||
van Montfrans J,
|
||
Nademi Z,
|
||
Nelken B,
|
||
Parikh S,
|
||
Plado S,
|
||
Ramakers J,
|
||
Redlich A,
|
||
Rieux-Laucat F,
|
||
Rivière JG,
|
||
Rodina Y,
|
||
Júnior PR,
|
||
Salou S,
|
||
Schuetz C,
|
||
Shcherbina A,
|
||
Slatter MA,
|
||
Touzot F,
|
||
Unal E,
|
||
Lankester AC,
|
||
Burns S,
|
||
Seppänen MRJ,
|
||
Neth O,
|
||
Albert MH,
|
||
Ehl S,
|
||
Neven B,
|
||
Speckmann C</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2024 Jan;153(1):275-286.e18.
|
||
Epub 2023 Nov 5
|
||
doi: 10.1016/j.jaci.2023.10.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37935260" target="_blank">37935260</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32972996">Autoantibodies against type I IFNs in patients with life-threatening COVID-19.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bastard P,
|
||
Rosen LB,
|
||
Zhang Q,
|
||
Michailidis E,
|
||
Hoffmann HH,
|
||
Zhang Y,
|
||
Dorgham K,
|
||
Philippot Q,
|
||
Rosain J,
|
||
Béziat V,
|
||
Manry J,
|
||
Shaw E,
|
||
Haljasmägi L,
|
||
Peterson P,
|
||
Lorenzo L,
|
||
Bizien L,
|
||
Trouillet-Assant S,
|
||
Dobbs K,
|
||
de Jesus AA,
|
||
Belot A,
|
||
Kallaste A,
|
||
Catherinot E,
|
||
Tandjaoui-Lambiotte Y,
|
||
Le Pen J,
|
||
Kerner G,
|
||
Bigio B,
|
||
Seeleuthner Y,
|
||
Yang R,
|
||
Bolze A,
|
||
Spaan AN,
|
||
Delmonte OM,
|
||
Abers MS,
|
||
Aiuti A,
|
||
Casari G,
|
||
Lampasona V,
|
||
Piemonti L,
|
||
Ciceri F,
|
||
Bilguvar K,
|
||
Lifton RP,
|
||
Vasse M,
|
||
Smadja DM,
|
||
Migaud M,
|
||
Hadjadj J,
|
||
Terrier B,
|
||
Duffy D,
|
||
Quintana-Murci L,
|
||
van de Beek D,
|
||
Roussel L,
|
||
Vinh DC,
|
||
Tangye SG,
|
||
Haerynck F,
|
||
Dalmau D,
|
||
Martinez-Picado J,
|
||
Brodin P,
|
||
Nussenzweig MC,
|
||
Boisson-Dupuis S,
|
||
Rodríguez-Gallego C,
|
||
Vogt G,
|
||
Mogensen TH,
|
||
Oler AJ,
|
||
Gu J,
|
||
Burbelo PD,
|
||
Cohen JI,
|
||
Biondi A,
|
||
Bettini LR,
|
||
D'Angio M,
|
||
Bonfanti P,
|
||
Rossignol P,
|
||
Mayaux J,
|
||
Rieux-Laucat F,
|
||
Husebye ES,
|
||
Fusco F,
|
||
Ursini MV,
|
||
Imberti L,
|
||
Sottini A,
|
||
Paghera S,
|
||
Quiros-Roldan E,
|
||
Rossi C,
|
||
Castagnoli R,
|
||
Montagna D,
|
||
Licari A,
|
||
Marseglia GL,
|
||
Duval X,
|
||
Ghosn J;
|
||
HGID Lab;
|
||
NIAID-USUHS Immune Response to COVID Group;
|
||
COVID Clinicians;
|
||
COVID-STORM Clinicians;
|
||
Imagine COVID Group;
|
||
French COVID Cohort Study Group;
|
||
Milieu Intérieur Consortium;
|
||
CoV-Contact Cohort;
|
||
Amsterdam UMC Covid-19 Biobank;
|
||
COVID Human Genetic Effort,
|
||
Tsang JS,
|
||
Goldbach-Mansky R,
|
||
Kisand K,
|
||
Lionakis MS,
|
||
Puel A,
|
||
Zhang SY,
|
||
Holland SM,
|
||
Gorochov G,
|
||
Jouanguy E,
|
||
Rice CM,
|
||
Cobat A,
|
||
Notarangelo LD,
|
||
Abel L,
|
||
Su HC,
|
||
Casanova JL</span><br />
|
||
<span class="medgenPMjournal">Science</span>
|
||
2020 Oct 23;370(6515)
|
||
Epub 2020 Sep 24
|
||
doi: 10.1126/science.abd4585.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32972996" target="_blank">32972996</a><a href="/pmc/articles/PMC7857397" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31581173">Rheumatological manifestations in inborn errors of immunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Köstel Bal S,
|
||
Pazmandi J,
|
||
Boztug K,
|
||
Özen S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2020 Jan;87(2):293-299.
|
||
Epub 2019 Oct 3
|
||
doi: 10.1038/s41390-019-0600-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31581173" target="_blank">31581173</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24390342">Genetics of rheumatoid arthritis contributes to biology and drug discovery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okada Y,
|
||
Wu D,
|
||
Trynka G,
|
||
Raj T,
|
||
Terao C,
|
||
Ikari K,
|
||
Kochi Y,
|
||
Ohmura K,
|
||
Suzuki A,
|
||
Yoshida S,
|
||
Graham RR,
|
||
Manoharan A,
|
||
Ortmann W,
|
||
Bhangale T,
|
||
Denny JC,
|
||
Carroll RJ,
|
||
Eyler AE,
|
||
Greenberg JD,
|
||
Kremer JM,
|
||
Pappas DA,
|
||
Jiang L,
|
||
Yin J,
|
||
Ye L,
|
||
Su DF,
|
||
Yang J,
|
||
Xie G,
|
||
Keystone E,
|
||
Westra HJ,
|
||
Esko T,
|
||
Metspalu A,
|
||
Zhou X,
|
||
Gupta N,
|
||
Mirel D,
|
||
Stahl EA,
|
||
Diogo D,
|
||
Cui J,
|
||
Liao K,
|
||
Guo MH,
|
||
Myouzen K,
|
||
Kawaguchi T,
|
||
Coenen MJ,
|
||
van Riel PL,
|
||
van de Laar MA,
|
||
Guchelaar HJ,
|
||
Huizinga TW,
|
||
Dieudé P,
|
||
Mariette X,
|
||
Bridges SL Jr,
|
||
Zhernakova A,
|
||
Toes RE,
|
||
Tak PP,
|
||
Miceli-Richard C,
|
||
Bang SY,
|
||
Lee HS,
|
||
Martin J,
|
||
Gonzalez-Gay MA,
|
||
Rodriguez-Rodriguez L,
|
||
Rantapää-Dahlqvist S,
|
||
Arlestig L,
|
||
Choi HK,
|
||
Kamatani Y,
|
||
Galan P,
|
||
Lathrop M;
|
||
RACI consortium;
|
||
GARNET consortium,
|
||
Eyre S,
|
||
Bowes J,
|
||
Barton A,
|
||
de Vries N,
|
||
Moreland LW,
|
||
Criswell LA,
|
||
Karlson EW,
|
||
Taniguchi A,
|
||
Yamada R,
|
||
Kubo M,
|
||
Liu JS,
|
||
Bae SC,
|
||
Worthington J,
|
||
Padyukov L,
|
||
Klareskog L,
|
||
Gregersen PK,
|
||
Raychaudhuri S,
|
||
Stranger BE,
|
||
De Jager PL,
|
||
Franke L,
|
||
Visscher PM,
|
||
Brown MA,
|
||
Yamanaka H,
|
||
Mimori T,
|
||
Takahashi A,
|
||
Xu H,
|
||
Behrens TW,
|
||
Siminovitch KA,
|
||
Momohara S,
|
||
Matsuda F,
|
||
Yamamoto K,
|
||
Plenge RM</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2014 Feb 20;506(7488):376-81.
|
||
Epub 2013 Dec 25
|
||
doi: 10.1038/nature12873.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24390342" target="_blank">24390342</a><a href="/pmc/articles/PMC3944098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2087%20and%20autoimmunity%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 (72)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38579284">Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vallée TC,
|
||
Glasmacher JS,
|
||
Buchner H,
|
||
Arkwright PD,
|
||
Behrends U,
|
||
Bondarenko A,
|
||
Browning MJ,
|
||
Buchbinder D,
|
||
Cattoni A,
|
||
Chernyshova L,
|
||
Ciznar P,
|
||
Cole T,
|
||
Czogała W,
|
||
Dueckers G,
|
||
Edgar JDM,
|
||
Erbey F,
|
||
Fasth A,
|
||
Ferrua F,
|
||
Formankova R,
|
||
Gambineri E,
|
||
Gennery AR,
|
||
Goldman FD,
|
||
Gonzalez-Granado LI,
|
||
Heilmann C,
|
||
Heiskanen-Kosma T,
|
||
Juntti H,
|
||
Kainulainen L,
|
||
Kanegane H,
|
||
Karaca NE,
|
||
Kilic SS,
|
||
Klein C,
|
||
Kołtan S,
|
||
Kondratenko I,
|
||
Meyts I,
|
||
Nasrullayeva GM,
|
||
Notarangelo LD,
|
||
Pasic S,
|
||
Pellier I,
|
||
Pignata C,
|
||
Misbah S,
|
||
Schulz A,
|
||
Segundo GR,
|
||
Shcherbina A,
|
||
Slatter M,
|
||
Sokolic R,
|
||
Soler-Palacin P,
|
||
Stepensky P,
|
||
van Montfrans JM,
|
||
Ryhänen S,
|
||
Wolska-Kuśnierz B,
|
||
Ziegler JB,
|
||
Zhao X,
|
||
Aiuti A,
|
||
Ochs HD,
|
||
Albert MH</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2024 Jun 13;143(24):2504-2516.
|
||
doi: 10.1182/blood.2023021411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38579284" target="_blank">38579284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38280023">Systematic review of mortality and survival rates for APDS.</a></div>
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Dehrab A,
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<span class="bold">PMID: </span><a href="/pubmed/27332039" target="_blank">27332039</a><a href="/pmc/articles/PMC5179316" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2087%20and%20autoimmunity%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 (38)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38579284">Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.</a></div>
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2024 Jun 13;143(24):2504-2516.
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doi: 10.1182/blood.2023021411.
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<span class="bold">PMID: </span><a href="/pubmed/38579284" target="_blank">38579284</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rao VK,
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Kulm E,
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Schuetz C,
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<span class="bold">PMID: </span><a href="/pubmed/37797893" target="_blank">37797893</a><a href="/pmc/articles/PMC10841669" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8896768">Leukocytes and organ-nonspecific autoantibodies in schizophrenics and their siblings: markers of vulnerability or disease?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zorrilla EP,
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Cannon TD,
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Gur RE,
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Kessler J</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/8896768" target="_blank">8896768</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2087%20and%20autoimmunity%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 (51)</a></div></div>
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|
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|
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<div class="portlet mgSection" id="ID_104">
|
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<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>
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38280023">Systematic review of mortality and survival rates for APDS.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hanson J,
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Bonnen PE</span><br />
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<span class="medgenPMjournal">Clin Exp Med</span>
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2024 Jan 27;24(1):17.
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doi: 10.1007/s10238-023-01259-y.
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<span class="bold">PMID: </span><a href="/pubmed/38280023" target="_blank">38280023</a><a href="/pmc/articles/PMC10821986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36087508">MicroRNA expression profiles of peripheral blood and mononuclear cells in myasthenia gravis: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saghazadeh A,
|
||
Rezaei N</span><br />
|
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<span class="medgenPMjournal">Int Immunopharmacol</span>
|
||
2022 Nov;112:109205.
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||
Epub 2022 Sep 7
|
||
doi: 10.1016/j.intimp.2022.109205.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36087508" target="_blank">36087508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33777053">Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang W,
|
||
Chen X,
|
||
Gao G,
|
||
Xing S,
|
||
Zhou L,
|
||
Tang X,
|
||
Zhao X,
|
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An Y</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:654406.
|
||
Epub 2021 Mar 11
|
||
doi: 10.3389/fimmu.2021.654406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33777053" target="_blank">33777053</a><a href="/pmc/articles/PMC7991083" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33594840">Neuronal and glial CSF biomarkers in multiple sclerosis: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Momtazmanesh S,
|
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Shobeiri P,
|
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Saghazadeh A,
|
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Teunissen CE,
|
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Burman J,
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Szalardy L,
|
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Klivenyi P,
|
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Bartos A,
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Fernandes A,
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2021 Aug 26;32(6):573-595.
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Epub 2021 Feb 17
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doi: 10.1515/revneuro-2020-0145.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33594840" target="_blank">33594840</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32428713">Clinical, Immunological, and Genetic Features in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jamee M,
|
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Zaki-Dizaji M,
|
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Lo B,
|
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Abolhassani H,
|
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Aghamahdi F,
|
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Mosavian M,
|
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Nademi Z,
|
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Mohammadi H,
|
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Jadidi-Niaragh F,
|
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Rojas M,
|
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Anaya JM,
|
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Azizi G</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
|
||
2020 Sep;8(8):2747-2760.e7.
|
||
Epub 2020 May 16
|
||
doi: 10.1016/j.jaip.2020.04.070.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32428713" target="_blank">32428713</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2087%20and%20autoimmunity%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 (5)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5562070%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
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<li><a href="/gtr/tests?term=C5562070%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5562070%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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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=619573" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Immunodeficiency%2087%20and%20autoimmunity" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<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=610094" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=50619[geneid]" target="_blank">View DEF6 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=619573" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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