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<!--
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UID=146347
|
||
ConceptID=C0685891
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypoplasia of the thymus</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146347</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.">C0685891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Thymic hypoplasia; Thymus hypoplasia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital hypoplasia of thymus (93297002); Congenital small thymus (93297002)</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:0000778">HP:0000778</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>
|
||
<div class="portlet_content ln">Underdevelopment of the thymus. [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_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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0685891[DISCUI]&test_type=Clinical" ref="ncbi_uid=146347">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Hypoplasia 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">Hypoplasia of the thymus</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_112">
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<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>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_439"><div><strong>Ataxia-telangiectasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>439</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:">C0004135</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of ataxia-telangiectasia (A-T), a multisystem disorder, is a continuum ranging from classic A-T at the severe end and variant A-T at the milder end. Nonetheless, distinguishing between classic A-T and variant A-T on this spectrum helps understand differences in disease course, rate of progression, and life expectancy. Classic A-T is characterized by childhood onset of progressive neurologic manifestations (initially cerebellar ataxia, followed typically by extrapyramidal involvement and peripheral sensorimotor neuropathy), immunodeficiency (variably associated with abnormalities of humoral immunity, cellular immunity, or combined immune deficiency), pulmonary disease (resulting from recurrent infections, immune deficiency, aspiration, interstitial lung disease, and neurologic abnormalities), and increased risk of malignancy. Although it is generally accepted that intellectual disability is not common in A-T, disturbances in cerebellar as well as non-cerebellar brain areas and networks may result in cognitive deficits. Increased sensitivity to ionizing radiation (x-ray and gamma ray) can result in severe side effects from such treatments. Life expectancy is significantly reduced due to cancer, pulmonary disease, and infections. Variant A-T has a significantly milder disease course. While cerebellar ataxia can be absent, extrapyramidal movement disorders are common (typically dystonia and dystonic tremor) and most individuals have manifestations of axonal sensorimotor polyneuropathy. In contrast to classic A-T, immune function is generally normal, respiratory infections are not increased, and pulmonary disease is not a major feature. However, risk of developing malignancies is increased, particularly in premenopausal females who have an increased risk of developing breast cancer and hematologic malignancies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/439">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_4297"><div><strong>DiGeorge syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4297</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.">C0012236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4297">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_124417"><div><strong>Reticular dysgenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124417</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.">C0272167</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reticular dysgenesis, the most severe form of inborn severe combined immunodeficiency (SCID), is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth (summary by Pannicke et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124417">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140806"><div><strong>Neonatal pseudo-hydrocephalic progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140806</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.">C0406586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140806">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_220906"><div><strong>X-linked severe combined immunodeficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220906</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1279481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of X-linked severe combined immunodeficiency (X-SCID) ranges from typical X-SCID (early-onset disease in males that is fatal if not treated with hematopoietic stem cell transplantation [HSCT] or gene therapy) to atypical X-SCID (later-onset disease comprising phenotypes caused by variable immunodeficiency, immune dysregulation, and/or autoimmunity). Typical X-SCID. Prior to universal newborn screening (NBS) for SCID most males with typical X-SCID came to medical attention between ages three and six months because of recurrent infections, persistent infections, and infections with opportunistic organisms. With universal NBS for SCID, the common presentation for typical X-SCID is now an asymptomatic, healthy-appearing male infant. Atypical X-SCID, which usually is not detected by NBS, can manifest in the first years of life or later with one of the following: recurrent upper and lower respiratory tract infections with bronchiectasis; Omenn syndrome, a clinical phenotype caused by immune dysregulation; X-SCID combined immunodeficiency (often with recurrent infections, warts, and dermatitis); immune dysregulation and autoimmunity; or Epstein-Barr virus-related lymphoproliferative complications.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220906">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348040"><div><strong>Short-limb skeletal dysplasia with severe combined immunodeficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348040</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1860168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348040">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_398130"><div><strong>Histiocytic medullary reticulosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398130</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.">C2700553</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Omenn syndrome is an autosomal recessive disorder characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. B cells are mostly absent, T-cell counts are normal to elevated, and T cells are frequently activated and express a restricted T-cell receptor (TCR) repertoire (summary by Ege et al., 2005). Another distinct form of familial histiocytic reticulocytosis (267700) is caused by mutation in the perforin-1 gene (PRF1; 170280) on chromosome 10q22.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/398130">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_440578"><div><strong>Combined immunodeficiency due to ORAI1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440578</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.">C2748568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-9 (IMD9) is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel (summary by McCarl et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/440578">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442566"><div><strong>Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442566</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.">C2750804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective tissue disorder such as inguinal hernias and hollow visceral diverticula (e.g., intestine, bladder). Other manifestations can include pyloric stenosis, diaphragmatic hernia, rectal prolapse, gastrointestinal elongation/tortuosity, cardiovascular abnormality, pulmonary hypertension, hypotonia and frequent pulmonary infections. Bladder diverticula and hydronephrosis are common. Early demise has been associated with pulmonary emphysema.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442566">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414066"><div><strong>Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414066</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.">C2751630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">G6PC3 deficiency is characterized by severe congenital neutropenia which occurs in a phenotypic continuum that includes the following: Isolated severe congenital neutropenia (nonsyndromic). Classic G6PC3 deficiency (severe congenital neutropenia plus cardiovascular and/or urogenital abnormalities). Severe G6PC3 deficiency (classic G6PC3 deficiency plus involvement of non-myeloid hematopoietic cell lines, additional extra-hematologic features, and pulmonary hypertension; known as Dursun syndrome). Neutropenia usually presents with recurrent bacterial infections in the first few months of life. Intrauterine growth restriction (IUGR), failure to thrive (FTT), and poor postnatal growth are common. Other findings in classic and severe G6PC3 deficiency can include inflammatory bowel disease (IBD) resembling Crohn disease, and endocrine disorders (growth hormone deficiency, hypogonadotropic hypogonadism, and delayed puberty).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414066">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_763187"><div><strong>Peroxisome biogenesis disorder 2A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763187</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.">C3550273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763187">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934620"><div><strong>Lung disease, immunodeficiency, and chromosome breakage syndrome;</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934620</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.">C4310653</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934620">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1624349"><div><strong>Fraser syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1624349</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.">C4540036</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1624349">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1786417"><div><strong>Immunodeficiency 80 with or without congenital cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1786417</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.">C5543344</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80) is an autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported (summary by Baxley et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1786417">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1799070"><div><strong>Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1799070</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.">C5567647</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-42 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to mycobacterial and candidal infections beginning in infancy. Patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections (summary by Okada et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1799070">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1799564"><div><strong>NEK9-related lethal skeletal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1799564</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.">C5568141</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lethal congenital contracture syndrome-10 (LCCS10) is an autosomal recessive disorder characterized by fetal akinesia, multiple contractures, shortening of upper and lower limbs, and narrow chest and thorax. Death occurs in utero or soon after birth (Casey et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1799564">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1806192"><div><strong>Gastrointestinal defects and immunodeficiency syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1806192</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5680044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) is characterized by multiple intestinal atresia, in which atresia occurs at various levels throughout the small and large intestines. Surgical outcomes are poor, and the condition is usually fatal within the first month of life. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency (Samuels et al., 2013; Avitzur et al., 2014; Lemoine et al., 2014). Genetic Heterogeneity of GIDID See also GIDID2 (619708), caused by mutation in the PI4KA gene (600286) on chromosome 22q11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1806192">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia-telangiectasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1799070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414066" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency due to ORAI1 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_4297" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DiGeorge syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1624349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fraser syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1806192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal defects and immunodeficiency syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_398130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Histiocytic medullary reticulosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1786417" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 80 with or without congenital cardiomyopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lung disease, immunodeficiency, and chromosome breakage syndrome;</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1799564" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">NEK9-related lethal skeletal dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140806" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal pseudo-hydrocephalic progeroid syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 2A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124417" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reticular dysgenesis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-limb skeletal dysplasia with severe combined immunodeficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_220906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked severe combined immunodeficiency</a></div></span></div></div>
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</div>
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<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/17389127">A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ousley O,
|
||
Rockers K,
|
||
Dell ML,
|
||
Coleman K,
|
||
Cubells JF</span><br />
|
||
<span class="medgenPMjournal">Curr Psychiatry Rep</span>
|
||
2007 Apr;9(2):148-58.
|
||
doi: 10.1007/s11920-007-0085-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17389127" target="_blank">17389127</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypoplasia%20of%20the%20thymus%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
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</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/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/37938781">Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Voyer T,
|
||
Parent AV,
|
||
Liu X,
|
||
Cederholm A,
|
||
Gervais A,
|
||
Rosain J,
|
||
Nguyen T,
|
||
Perez Lorenzo M,
|
||
Rackaityte E,
|
||
Rinchai D,
|
||
Zhang P,
|
||
Bizien L,
|
||
Hancioglu G,
|
||
Ghillani-Dalbin P,
|
||
Charuel JL,
|
||
Philippot Q,
|
||
Gueye MS,
|
||
Maglorius Renkilaraj MRL,
|
||
Ogishi M,
|
||
Soudée C,
|
||
Migaud M,
|
||
Rozenberg F,
|
||
Momenilandi M,
|
||
Riller Q,
|
||
Imberti L,
|
||
Delmonte OM,
|
||
Müller G,
|
||
Keller B,
|
||
Orrego J,
|
||
Franco Gallego WA,
|
||
Rubin T,
|
||
Emiroglu M,
|
||
Parvaneh N,
|
||
Eriksson D,
|
||
Aranda-Guillen M,
|
||
Berrios DI,
|
||
Vong L,
|
||
Katelaris CH,
|
||
Mustillo P,
|
||
Raedler J,
|
||
Bohlen J,
|
||
Bengi Celik J,
|
||
Astudillo C,
|
||
Winter S;
|
||
NF-κB Consortium;
|
||
COVID Human Genetic Effort,
|
||
McLean C,
|
||
Guffroy A,
|
||
DeRisi JL,
|
||
Yu D,
|
||
Miller C,
|
||
Feng Y,
|
||
Guichard A,
|
||
Béziat V,
|
||
Bustamante J,
|
||
Pan-Hammarström Q,
|
||
Zhang Y,
|
||
Rosen LB,
|
||
Holland SM,
|
||
Bosticardo M,
|
||
Kenney H,
|
||
Castagnoli R,
|
||
Slade CA,
|
||
Boztuğ K,
|
||
Mahlaoui N,
|
||
Latour S,
|
||
Abraham RS,
|
||
Lougaris V,
|
||
Hauck F,
|
||
Sediva A,
|
||
Atschekzei F,
|
||
Sogkas G,
|
||
Poli MC,
|
||
Slatter MA,
|
||
Palterer B,
|
||
Keller MD,
|
||
Pinzon-Charry A,
|
||
Sullivan A,
|
||
Droney L,
|
||
Suan D,
|
||
Wong M,
|
||
Kane A,
|
||
Hu H,
|
||
Ma C,
|
||
Grombiříková H,
|
||
Ciznar P,
|
||
Dalal I,
|
||
Aladjidi N,
|
||
Hie M,
|
||
Lazaro E,
|
||
Franco J,
|
||
Keles S,
|
||
Malphettes M,
|
||
Pasquet M,
|
||
Maccari ME,
|
||
Meinhardt A,
|
||
Ikinciogullari A,
|
||
Shahrooei M,
|
||
Celmeli F,
|
||
Frosk P,
|
||
Goodnow CC,
|
||
Gray PE,
|
||
Belot A,
|
||
Kuehn HS,
|
||
Rosenzweig SD,
|
||
Miyara M,
|
||
Licciardi F,
|
||
Servettaz A,
|
||
Barlogis V,
|
||
Le Guenno G,
|
||
Herrmann VM,
|
||
Kuijpers T,
|
||
Ducoux G,
|
||
Sarrot-Reynauld F,
|
||
Schuetz C,
|
||
Cunningham-Rundles C,
|
||
Rieux-Laucat F,
|
||
Tangye SG,
|
||
Sobacchi C,
|
||
Doffinger R,
|
||
Warnatz K,
|
||
Grimbacher B,
|
||
Fieschi C,
|
||
Berteloot L,
|
||
Bryant VL,
|
||
Trouillet Assant S,
|
||
Su H,
|
||
Neven B,
|
||
Abel L,
|
||
Zhang Q,
|
||
Boisson B,
|
||
Cobat A,
|
||
Jouanguy E,
|
||
Kampe O,
|
||
Bastard P,
|
||
Roifman CM,
|
||
Landegren N,
|
||
Notarangelo LD,
|
||
Anderson MS,
|
||
Casanova JL,
|
||
Puel A</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2023 Nov;623(7988):803-813.
|
||
Epub 2023 Nov 8
|
||
doi: 10.1038/s41586-023-06717-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37938781" target="_blank">37938781</a><a href="/pmc/articles/PMC10665196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33453290">The molecular features of normal and atopic dermatitis skin in infants, children, adolescents, and adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Renert-Yuval Y,
|
||
Del Duca E,
|
||
Pavel AB,
|
||
Fang M,
|
||
Lefferdink R,
|
||
Wu J,
|
||
Diaz A,
|
||
Estrada YD,
|
||
Canter T,
|
||
Zhang N,
|
||
Wagner A,
|
||
Chamlin S,
|
||
Krueger JG,
|
||
Guttman-Yassky E,
|
||
Paller AS</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2021 Jul;148(1):148-163.
|
||
Epub 2021 Jan 13
|
||
doi: 10.1016/j.jaci.2021.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33453290" target="_blank">33453290</a><a href="/pmc/articles/PMC9285652" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28777164">MR Imaging of Mediastinal Masses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carter BW,
|
||
Betancourt SL,
|
||
Benveniste MF</span><br />
|
||
<span class="medgenPMjournal">Top Magn Reson Imaging</span>
|
||
2017 Aug;26(4):153-165.
|
||
doi: 10.1097/RMR.0000000000000134.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28777164" target="_blank">28777164</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28129068">ITMIG Classification of Mediastinal Compartments and Multidisciplinary Approach to Mediastinal Masses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carter BW,
|
||
Benveniste MF,
|
||
Madan R,
|
||
Godoy MC,
|
||
de Groot PM,
|
||
Truong MT,
|
||
Rosado-de-Christenson ML,
|
||
Marom EM</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2017 Mar-Apr;37(2):413-436.
|
||
Epub 2017 Jan 27
|
||
doi: 10.1148/rg.2017160095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28129068" target="_blank">28129068</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20the%20thymus%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 (226)</a></div><h3 class="subhead">Diagnosis</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/37176024">Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Szczawińska-Popłonyk A,
|
||
Schwartzmann E,
|
||
Chmara Z,
|
||
Głukowska A,
|
||
Krysa T,
|
||
Majchrzycki M,
|
||
Olejnicki M,
|
||
Ostrowska P,
|
||
Babik J</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 May 5;24(9)
|
||
doi: 10.3390/ijms24098317.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37176024" target="_blank">37176024</a><a href="/pmc/articles/PMC10179617" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35110278">DiGeorge syndrome: consider the diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Altshuler E,
|
||
Saidi A,
|
||
Budd J</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2022 Feb 2;15(2)
|
||
doi: 10.1136/bcr-2021-245164.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35110278" target="_blank">35110278</a><a href="/pmc/articles/PMC8811567" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33453009">"The flying thymus sign".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen D,
|
||
Nguyen T,
|
||
Castro Rodriguez J</span><br />
|
||
<span class="medgenPMjournal">Intern Emerg Med</span>
|
||
2021 Sep;16(6):1701-1702.
|
||
Epub 2021 Jan 16
|
||
doi: 10.1007/s11739-020-02626-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33453009" target="_blank">33453009</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28129068">ITMIG Classification of Mediastinal Compartments and Multidisciplinary Approach to Mediastinal Masses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carter BW,
|
||
Benveniste MF,
|
||
Madan R,
|
||
Godoy MC,
|
||
de Groot PM,
|
||
Truong MT,
|
||
Rosado-de-Christenson ML,
|
||
Marom EM</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2017 Mar-Apr;37(2):413-436.
|
||
Epub 2017 Jan 27
|
||
doi: 10.1148/rg.2017160095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28129068" target="_blank">28129068</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%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 (379)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38047378">CD4+ T-Cell Legumain Deficiency Attenuates Hypertensive Damage via Preservation of TRAF6.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">He Y,
|
||
Zou P,
|
||
Lu J,
|
||
Lu Y,
|
||
Yuan S,
|
||
Zheng X,
|
||
Liu J,
|
||
Zeng C,
|
||
Liu L,
|
||
Tang L,
|
||
Fang Z,
|
||
Hu X,
|
||
Liu Q,
|
||
Zhou S</span><br />
|
||
<span class="medgenPMjournal">Circ Res</span>
|
||
2024 Jan 5;134(1):9-29.
|
||
Epub 2023 Dec 4
|
||
doi: 10.1161/CIRCRESAHA.123.322835.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38047378" target="_blank">38047378</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20236866">Thymus transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Markert ML,
|
||
Devlin BH,
|
||
McCarthy EA</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2010 May;135(2):236-46.
|
||
Epub 2010 Mar 16
|
||
doi: 10.1016/j.clim.2010.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20236866" target="_blank">20236866</a><a href="/pmc/articles/PMC3646264" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/802876">Immune deficiency diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hitzig WH</span><br />
|
||
<span class="medgenPMjournal">J Clin Pathol Suppl (Assoc Clin Pathol)</span>
|
||
1975;6:83-91.
|
||
doi: 10.1136/jcp.s1-6.1.83.
|
||
<span class="bold">PMID: </span><a href="/pubmed/802876" target="_blank">802876</a><a href="/pmc/articles/PMC1436071" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4934166">The thymus gland: experimental and clinical studies of its role in the development and expression of immune functions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldstein AL,
|
||
White A</span><br />
|
||
<span class="medgenPMjournal">Adv Metab Disord</span>
|
||
1971;5:149-82.
|
||
doi: 10.1016/b978-0-12-027305-8.50025-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4934166" target="_blank">4934166</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4932547">The human gut and immune homeostasis. A brief survey of current concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roy CC,
|
||
Dubois RS</span><br />
|
||
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
|
||
1971 May;10(5):275-81.
|
||
doi: 10.1177/000992287101000511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4932547" target="_blank">4932547</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%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 (149)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38527434">Brain-Thymus Connections in Chagas Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">González FB,
|
||
Savino W,
|
||
Pérez AR</span><br />
|
||
<span class="medgenPMjournal">Neuroimmunomodulation</span>
|
||
2024;31(1):78-88.
|
||
Epub 2024 Apr 9
|
||
doi: 10.1159/000538220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38527434" target="_blank">38527434</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37849766">Unraveling molecular networks in thymic epithelial tumors: deciphering the unique signatures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang X,
|
||
Zhang P,
|
||
Cong A,
|
||
Feng Y,
|
||
Chi H,
|
||
Xia Z,
|
||
Tang H</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1264325.
|
||
Epub 2023 Oct 2
|
||
doi: 10.3389/fimmu.2023.1264325.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37849766" target="_blank">37849766</a><a href="/pmc/articles/PMC10577431" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36201890">IL-7: Comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winer H,
|
||
Rodrigues GOL,
|
||
Hixon JA,
|
||
Aiello FB,
|
||
Hsu TC,
|
||
Wachter BT,
|
||
Li W,
|
||
Durum SK</span><br />
|
||
<span class="medgenPMjournal">Cytokine</span>
|
||
2022 Dec;160:156049.
|
||
Epub 2022 Oct 3
|
||
doi: 10.1016/j.cyto.2022.156049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36201890" target="_blank">36201890</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27636224">Pediatric T-cell acute lymphoblastic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karrman K,
|
||
Johansson B</span><br />
|
||
<span class="medgenPMjournal">Genes Chromosomes Cancer</span>
|
||
2017 Feb;56(2):89-116.
|
||
Epub 2016 Oct 25
|
||
doi: 10.1002/gcc.22416.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27636224" target="_blank">27636224</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23742015">The consequences of not having eosinophils.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gleich GJ,
|
||
Klion AD,
|
||
Lee JJ,
|
||
Weller PF</span><br />
|
||
<span class="medgenPMjournal">Allergy</span>
|
||
2013 Jul;68(7):829-35.
|
||
Epub 2013 Jun 6
|
||
doi: 10.1111/all.12169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23742015" target="_blank">23742015</a><a href="/pmc/articles/PMC3915877" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%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 (161)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39180749">Spatial transcriptomics elucidates medulla niche supporting germinal center response in myasthenia gravis-associated thymoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yasumizu Y,
|
||
Kinoshita M,
|
||
Zhang MJ,
|
||
Motooka D,
|
||
Suzuki K,
|
||
Nojima S,
|
||
Koizumi N,
|
||
Okuzaki D,
|
||
Funaki S,
|
||
Shintani Y,
|
||
Ohkura N,
|
||
Morii E,
|
||
Okuno T,
|
||
Mochizuki H</span><br />
|
||
<span class="medgenPMjournal">Cell Rep</span>
|
||
2024 Sep 24;43(9):114677.
|
||
Epub 2024 Aug 23
|
||
doi: 10.1016/j.celrep.2024.114677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39180749" target="_blank">39180749</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36201890">IL-7: Comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winer H,
|
||
Rodrigues GOL,
|
||
Hixon JA,
|
||
Aiello FB,
|
||
Hsu TC,
|
||
Wachter BT,
|
||
Li W,
|
||
Durum SK</span><br />
|
||
<span class="medgenPMjournal">Cytokine</span>
|
||
2022 Dec;160:156049.
|
||
Epub 2022 Oct 3
|
||
doi: 10.1016/j.cyto.2022.156049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36201890" target="_blank">36201890</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33453290">The molecular features of normal and atopic dermatitis skin in infants, children, adolescents, and adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Renert-Yuval Y,
|
||
Del Duca E,
|
||
Pavel AB,
|
||
Fang M,
|
||
Lefferdink R,
|
||
Wu J,
|
||
Diaz A,
|
||
Estrada YD,
|
||
Canter T,
|
||
Zhang N,
|
||
Wagner A,
|
||
Chamlin S,
|
||
Krueger JG,
|
||
Guttman-Yassky E,
|
||
Paller AS</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2021 Jul;148(1):148-163.
|
||
Epub 2021 Jan 13
|
||
doi: 10.1016/j.jaci.2021.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33453290" target="_blank">33453290</a><a href="/pmc/articles/PMC9285652" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23742015">The consequences of not having eosinophils.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gleich GJ,
|
||
Klion AD,
|
||
Lee JJ,
|
||
Weller PF</span><br />
|
||
<span class="medgenPMjournal">Allergy</span>
|
||
2013 Jul;68(7):829-35.
|
||
Epub 2013 Jun 6
|
||
doi: 10.1111/all.12169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23742015" target="_blank">23742015</a><a href="/pmc/articles/PMC3915877" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4296464">The thymus and the pituitary-adrenal axis in anencephaly. A correlation between experimental foetal endocrinology and human pathological observations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bearn JG</span><br />
|
||
<span class="medgenPMjournal">Br J Exp Pathol</span>
|
||
1968 Apr;49(2):136-44.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4296464" target="_blank">4296464</a><a href="/pmc/articles/PMC2093880" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%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 (233)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39960552">Thymus transplantation for DiGeorge Syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahmed HS,
|
||
Dias AF,
|
||
Pulkurthi SR</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2025 Feb 17;41(1):82.
|
||
doi: 10.1007/s00383-025-05976-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39960552" target="_blank">39960552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35996934">Health Effects Associated With Humidifier Disinfectant Use: A Systematic Review for Exploration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Song JH,
|
||
Ahn J,
|
||
Park MY,
|
||
Park J,
|
||
Lee YM,
|
||
Myong JP,
|
||
Koo JW,
|
||
Lee J</span><br />
|
||
<span class="medgenPMjournal">J Korean Med Sci</span>
|
||
2022 Aug 22;37(33):e257.
|
||
doi: 10.3346/jkms.2022.37.e257.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35996934" target="_blank">35996934</a><a href="/pmc/articles/PMC9424740" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20the%20thymus%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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|
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|
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0685891%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C0685891%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0685891%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Hypoplasia%20of%20the%20thymus" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypoplasia%20of%20the%20thymus%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hypoplasia%20of%20the%20thymus%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a href="/pubmed?term=Hypoplasia%20of%20the%20thymus%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0685891[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0685891[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=146347" ref="log$=recordlinks">PMC Articles</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3010c2f30673f7b5309f2">Hypoplasia of the thymus</a>
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<div class="ralinkpop offscreen_noflow">Hypoplasia of the thymus<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d3010767c23b31e01ae2cd">Recurrent bronchitis</a>
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<div class="tertiary">MedGen</div>
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