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<!--
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UID=146900
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ConceptID=C0685894
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aplasia of the thymus</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146900</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.">C0685894</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Thymic aplasia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital absence of thymus (91918005); Aplasia of thymus (702623002); Agenesis of thymus (1003550007); Congenital thymic aplasia (91918005)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0005359">HP:0005359</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Aplasia of the thymus</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867388" ref="tree=MeSH" title="MedGen record for Abnormality of the immune system">Abnormality of the immune system</a></span><ul><li><span class="TLline"><a href="/medgen/892707" ref="tree=MeSH" title="MedGen record for Abnormality of the lymphatic system">Abnormality of the lymphatic system</a></span><ul><li><span class="TLline"><a href="/medgen/852464" ref="tree=MeSH" title="MedGen record for Abnormal thymus morphology">Abnormal thymus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892728" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the thymus">Aplasia/Hypoplasia of the thymus</a></span><ul><li><span class="matched_ds">Aplasia of the thymus</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_101814"><div><strong>T-lymphocyte deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101814</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.">C0152094</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">T-cell immunodeficiency with thymic aplasia (TIDTA) is an autosomal recessive disorder that is often detected at birth through newborn SCID screening with the finding of decreased T-cell receptor excision circles (TRECs). Affected individuals have selective hypo- or aplasia of the thymus, which results in T-cell immunodeficiency due to impaired T-cell development and increased susceptibility to viral infections. The phenotype is similar to T-/B+/NK+ SCID. Some patients may die in childhood; thymus transplantation may be curative (summary by Du et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101814">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354935"><div><strong>Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354935</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:">C1863236</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects lymphocyte development, viability, and function. The ADA deficiency phenotypic spectrum includes typical early-onset severe combined immunodeficiency (ADA-SCID), diagnosed in infancy (about 80% of individuals), and less severe "delayed" or "late-onset" combined immunodeficiency (ADA-CID), diagnosed in older children and adults (15%-20% of individuals). Some healthy individuals who are deficient in red blood cell ADA (termed "partial ADA deficiency") have been discovered by screening populations or relatives of individuals with ADA-SCID. Newborn screening (NBS) for SCID uses extracts from Guthrie card dried blood spots to measure T-cell receptor excision circle (TREC) DNA by polymerase chain reaction (PCR). Screening specific for ADA deficiency can also be performed by detection of elevated levels of adenosine (Ado) and deoxyadenosine (dAdo) by tandem mass spectrometry (TMS). Both techniques can identify ADA-SCID before affected infants become symptomatic. Untreated ADA-SCID presents as life-threatening opportunistic illnesses in the first weeks to months of life with poor linear growth and weight gain secondary to persistent diarrhea, extensive dermatitis, and recurrent pneumonia. Skeletal abnormalities affecting ribs and vertebra, pulmonary alveolar proteinosis, hemolytic anemia, neurologic abnormalities, and transaminitis may also suggest untreated ADA-SCID. Characteristic immune abnormalities are lymphocytopenia (low numbers of T, B, and NK cells) combined with the absence of both humoral and cellular immune function. If immune function is not restored with enzyme replacement therapy (ERT), gene therapy, or hematopoietic stem cell transplantation (HSCT), children with ADA-SCID rarely survive beyond age one to two years. NBS for SCID does not identify individuals with the ADA-CID phenotype whose TREC numbers are above the threshold values of most screening laboratories. However, ADA-CID is identified by TMS NBS since the ADA substrates Ado and dAdo are increased. As TMS NBS for Ado/dAdo is not yet widely performed, individuals with ADA-CID are more often clinically diagnosed between ages one and ten years ("delayed" onset), or less often in the second to fourth decades ("late"/"adult" onset). Because the immunologic abnormalities are less pronounced than those of ADA-SCID, infections in ADA-CID may not be life-threatening and include recurrent otitis media, sinusitis, upper respiratory infections, and human papilloma viral infections. Untreated individuals with ADA-CID can develop over time chronic pulmonary disease, autoimmunity, atopic disease with elevated immunoglobulin E, and malignancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354935">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355454"><div><strong>Severe combined immunodeficiency due to DCLRE1C deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355454</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.">C1865370</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355454">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648299"><div><strong>Vertebral anomalies and variable endocrine and T-cell dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648299</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.">C4748741</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vertebral anomalies and variable endocrine and T-cell dysfunction is a syndrome characterized by an overlapping spectrum of features. Skeletal malformations primarily involve the vertebrae, and endocrine abnormalities involving parathyroid hormone (PTH; 168450), growth hormone (GH1; 139250), and the thyroid gland have been reported. T-cell abnormalities have been observed, with some patients showing thymus gland aplasia or hypoplasia. Patients have mild craniofacial dysmorphism, and some show developmental delay or behavioral problems. Cardiac defects may be present (Liu et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648299">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1830104"><div><strong>Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830104</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.">C5680310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. Additional features may include developmental delay, impaired intellectual development, and growth failure/retardation (summary by Cuvertino et al., 2020 and Baldridge et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830104">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1860800"><div><strong>Immunodeficiency 122</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1860800</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5935632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-122 (IMD122) is an autosomal recessive inborn error of immunity characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin. Laboratory studies show severely decreased CD3+ T cells particularly affecting naive T cells, impaired early TCR recombination with a restricted TCR repertoire, normal or low-normal B cells, and decreased or increased NK cells. Affected individuals have poor overall growth, global developmental delay with poor motor skills, impaired intellectual development, and poor or absent speech acquisition. More variable findings may include diffuse skin rash, erythroderma, sensorineural hearing loss, lymphadenopathy, dysmorphic facial features, and tooth abnormalities. Death in early childhood may occur (Mehawej et al., 2023; Riestra et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1860800">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1830104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1860800" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 122</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe combined immunodeficiency due to DCLRE1C deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_101814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">T-lymphocyte deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648299" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral anomalies and variable endocrine and T-cell dysfunction</a></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/38228406">Primary and secondary defects of the thymus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dinges SS,
|
||
Amini K,
|
||
Notarangelo LD,
|
||
Delmonte OM</span><br />
|
||
<span class="medgenPMjournal">Immunol Rev</span>
|
||
2024 Mar;322(1):178-211.
|
||
Epub 2024 Jan 16
|
||
doi: 10.1111/imr.13306.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38228406" target="_blank">38228406</a><a href="/pmc/articles/PMC10950553" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/305674">Thymosin treatment of children with primary immunodeficiency disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wara DW,
|
||
Ammann AJ</span><br />
|
||
<span class="medgenPMjournal">Transplant Proc</span>
|
||
1978 Mar;10(1):203-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/305674" target="_blank">305674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4600502">The primary immunodeficiency diseases: classification, pathogenesis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gatti RA,
|
||
Seligmann M</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
1973 Oct;15(4):195-215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4600502" target="_blank">4600502</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(aplasia%20of%20the%20thymus)%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 (40)</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">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35580511">Thymic hypoplasia induced by copy number variations contributed to explaining sudden infant death based on forensic autopsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen C,
|
||
Zhang C,
|
||
Deng Y,
|
||
Du S,
|
||
Wang H,
|
||
Li D</span><br />
|
||
<span class="medgenPMjournal">Forensic Sci Int</span>
|
||
2022 Jul;336:111323.
|
||
Epub 2022 May 2
|
||
doi: 10.1016/j.forsciint.2022.111323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35580511" target="_blank">35580511</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30755392">A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ji J,
|
||
Shen L,
|
||
Bootwalla M,
|
||
Quindipan C,
|
||
Tatarinova T,
|
||
Maglinte DT,
|
||
Buckley J,
|
||
Raca G,
|
||
Saitta SC,
|
||
Biegel JA,
|
||
Gai X</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2019 Apr;5(2)
|
||
Epub 2019 Apr 1
|
||
doi: 10.1101/mcs.a003756.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30755392" target="_blank">30755392</a><a href="/pmc/articles/PMC6549575" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16690236">Fatal Candida tropicalis infection in an 8-month-old infant with an aplasia of the thymus as a rare cause of death in infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thierauf A,
|
||
Dettmeyer R,
|
||
Wollersen H,
|
||
Musshoff F,
|
||
Madea B</span><br />
|
||
<span class="medgenPMjournal">Forensic Sci Int</span>
|
||
2007 Jul 4;169(2-3):228-33.
|
||
Epub 2006 May 11
|
||
doi: 10.1016/j.forsciint.2006.03.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16690236" target="_blank">16690236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12223415">An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frank DU,
|
||
Fotheringham LK,
|
||
Brewer JA,
|
||
Muglia LJ,
|
||
Tristani-Firouzi M,
|
||
Capecchi MR,
|
||
Moon AM</span><br />
|
||
<span class="medgenPMjournal">Development</span>
|
||
2002 Oct;129(19):4591-603.
|
||
doi: 10.1242/dev.129.19.4591.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12223415" target="_blank">12223415</a><a href="/pmc/articles/PMC1876665" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7843195">Clinical and molecular study of DiGeorge sequence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levy-Mozziconacci A,
|
||
Wernert F,
|
||
Scambler P,
|
||
Rouault F,
|
||
Metras D,
|
||
Kreitman B,
|
||
Depetris D,
|
||
Mattei MG,
|
||
Philip N</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1994 Nov;153(11):813-20.
|
||
doi: 10.1007/BF01972889.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7843195" target="_blank">7843195</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20thymus%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/7486827">DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demczuk S,
|
||
Aurias A</span><br />
|
||
<span class="medgenPMjournal">Ann Genet</span>
|
||
1995;38(2):59-76.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7486827" target="_blank">7486827</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1030164">Fatal BCG vaccination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erdös Z,
|
||
Romhányi J,
|
||
Szemenyei C</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr Acad Sci Hung</span>
|
||
1976;17(4):287-92.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1030164" target="_blank">1030164</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20thymus%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/16690236">Fatal Candida tropicalis infection in an 8-month-old infant with an aplasia of the thymus as a rare cause of death in infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thierauf A,
|
||
Dettmeyer R,
|
||
Wollersen H,
|
||
Musshoff F,
|
||
Madea B</span><br />
|
||
<span class="medgenPMjournal">Forensic Sci Int</span>
|
||
2007 Jul 4;169(2-3):228-33.
|
||
Epub 2006 May 11
|
||
doi: 10.1016/j.forsciint.2006.03.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16690236" target="_blank">16690236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7843195">Clinical and molecular study of DiGeorge sequence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levy-Mozziconacci A,
|
||
Wernert F,
|
||
Scambler P,
|
||
Rouault F,
|
||
Metras D,
|
||
Kreitman B,
|
||
Depetris D,
|
||
Mattei MG,
|
||
Philip N</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1994 Nov;153(11):813-20.
|
||
doi: 10.1007/BF01972889.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7843195" target="_blank">7843195</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20thymus%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20052490">Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Inoue H,
|
||
Takada H,
|
||
Kusuda T,
|
||
Goto T,
|
||
Ochiai M,
|
||
Kinjo T,
|
||
Muneuchi J,
|
||
Takahata Y,
|
||
Takahashi N,
|
||
Morio T,
|
||
Kosaki K,
|
||
Hara T</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2010 Jul;169(7):839-44.
|
||
Epub 2010 Jan 6
|
||
doi: 10.1007/s00431-009-1126-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20052490" target="_blank">20052490</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7606185">Microdeletion of chromosomal region 22q11 in DiGeorge syndrome: report of a case.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hou JW,
|
||
Wang JK,
|
||
Chou CC,
|
||
Wang TR</span><br />
|
||
<span class="medgenPMjournal">J Formos Med Assoc</span>
|
||
1995 Apr;94(4):200-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7606185" target="_blank">7606185</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20thymus%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Aplasia%20of%20the%20thymus" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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