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<meta name="keywords" content="C2750068, combined immunodeficiency with faciooculoskeletal anomalies, combined immunodeficiency with faciooculoskeletal anomalies syndrome, combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay, disease or syndrome, knstrn, pik3cd, rochis, roifman chitayat syndrome, roifman-chitayat syndrome, roifman-chitayat syndrome, digenic, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Roifman-Chitayat syndrome (ROCHIS) is an autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures, ataxia, and optic atrophy, dysmorphic facial features, distal skeletal anomalies, and combined immunodeficiency manifest as recurrent infections (summary by Sharfe et al., 2018)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=442377
|
||
ConceptID=C2750068
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Combined immunodeficiency with faciooculoskeletal anomalies<span class="h1sub">(ROCHIS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442377</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:">C2750068</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>COMBINED IMMUNODEFICIENCY, FACIAL DYSMORPHISM, OPTIC NERVE ATROPHY, SKELETAL ANOMALIES, AND DEVELOPMENTAL DELAY; Roifman-Chitayat syndrome; Roifman-Chitayat syndrome, digenic</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Roifman Chitayat syndrome (770625006); Combined immunodeficiency with faciooculoskeletal anomalies syndrome (770625006)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="KNSTRN - ID: 90417 - NCBI Gene" href="/gene/90417" class="medgenPMinfo">KNSTRN</a> (15q15.1); <a target="_blank" title="PIK3CD - ID: 5293 - NCBI Gene" href="/gene/5293" class="medgenPMinfo">PIK3CD</a> (1p36.22)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013226" target="_blank">MONDO:0013226</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613328" target="_blank">613328</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=221139">ORPHA221139</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Roifman-Chitayat syndrome (ROCHIS) is an autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures, ataxia, and optic atrophy, dysmorphic facial features, distal skeletal anomalies, and combined immunodeficiency manifest as recurrent infections (summary by Sharfe et al., 2018). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_68661"><div><strong>Ectopic kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68661</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.">C0238207</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A developmental defect in which a kidney is located in an abnormal anatomic position.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68661">Feature record</a> | <a href="/medgen?term=%22Ectopic%20kidney%22%5BClinical%20Features%5D%20OR%2068661%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323064"><div><strong>Short metacarpal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323064</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.">C1837084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323064">Feature record</a> | <a href="/medgen?term=%22Short%20metacarpal%22%5BClinical%20Features%5D%20OR%20323064%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8514"><div><strong>Dyskinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8514</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.">C0013384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8514">Feature record</a> | <a href="/medgen?term=%22Dyskinesia%22%5BClinical%20Features%5D%20OR%208514%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480553"><div><strong>Ventriculomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480553</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.">C3278923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in size of the ventricular system of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen?term=%22Ventriculomegaly%22%5BClinical%20Features%5D%20OR%20480553%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892704"><div><strong>Generalized myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892704</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.">C4021759</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892704">Feature record</a> | <a href="/medgen?term=%22Generalized%20myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%20892704%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2043"><div><strong>Arthritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2043</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.">C0003864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of a joint.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2043">Feature record</a> | <a href="/medgen?term=%22Arthritis%22%5BClinical%20Features%5D%20OR%202043%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9232"><div><strong>Umbilical hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9232</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.">C0019322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9232">Feature record</a> | <a href="/medgen?term=%22Umbilical%20hernia%22%5BClinical%20Features%5D%20OR%209232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18222"><div><strong>Osteopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18222</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.">C0029453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18222">Feature record</a> | <a href="/medgen?term=%22Osteopenia%22%5BClinical%20Features%5D%20OR%2018222%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341358"><div><strong>Short metatarsal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341358</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.">C1849020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341358">Feature record</a> | <a href="/medgen?term=%22Short%20metatarsal%22%5BClinical%20Features%5D%20OR%20341358%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_351282"><div><strong>Cone-shaped epiphysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351282</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.">C1865037</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351282">Feature record</a> | <a href="/medgen?term=%22Cone-shaped%20epiphysis%22%5BClinical%20Features%5D%20OR%20351282%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10813"><div><strong>Pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10813</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.">C0032285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of any part of the lung parenchyma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10813">Feature record</a> | <a href="/medgen?term=%22Pneumonia%22%5BClinical%20Features%5D%20OR%2010813%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116054"><div><strong>Lacrimal duct stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116054</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.">C0238300</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Narrowing of a tear duct (lacrimal duct).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116054">Feature record</a> | <a href="/medgen?term=%22Lacrimal%20duct%20stenosis%22%5BClinical%20Features%5D%20OR%20116054%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98409"><div><strong>Abnormal facial shape</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98409</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.">C0424503</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal morphology (form) of the face or its components.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98409">Feature record</a> | <a href="/medgen?term=%22Abnormal%20facial%20shape%22%5BClinical%20Features%5D%20OR%2098409%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99267"><div><strong>Short neck</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99267</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.">C0521525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of the neck.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99267">Feature record</a> | <a href="/medgen?term=%22Short%20neck%22%5BClinical%20Features%5D%20OR%2099267%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</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.">C1836542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341441"><div><strong>Wide nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341441</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.">C1849367</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased breadth of the nasal bridge (and with it, the nasal root).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341441">Feature record</a> | <a href="/medgen?term=%22Wide%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20341441%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_349384"><div><strong>Underdeveloped supraorbital ridges</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349384</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.">C1861869</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Flatness of the supraorbital portion of the frontal bones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349384">Feature record</a> | <a href="/medgen?term=%22Underdeveloped%20supraorbital%20ridges%22%5BClinical%20Features%5D%20OR%20349384%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_378341"><div><strong>Thin lower lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>378341</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.">C2053440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/378341">Feature record</a> | <a href="/medgen?term=%22Thin%20lower%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20378341%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18180"><div><strong>Optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18180</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.">C0029124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18180">Feature record</a> | <a href="/medgen?term=%22Optic%20atrophy%22%5BClinical%20Features%5D%20OR%2018180%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98409" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal facial shape</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lacrimal duct stenosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99267" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short neck</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_378341" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin lower lip vermilion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_349384" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Underdeveloped supraorbital ridges</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide nasal bridge</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short metacarpal</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectopic kidney</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pneumonia</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthritis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351282" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-shaped epiphysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341358" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short metatarsal</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Umbilical hernia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskinesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750068[DISCUI]&test_type=Clinical" ref="ncbi_uid=442377">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442377" target="_blank" href="/omim/613328">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442377" ref="ncbi_uid=442377">V</a></span></span><span class="TLline">Combined immunodeficiency with faciooculoskeletal anomalies</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/609410" ref="tree=MeSH" title="MedGen record for Immuno-osseous dysplasia">Immuno-osseous dysplasia</a></span><ul><li><span class="matched_ds">Combined immunodeficiency with faciooculoskeletal anomalies</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=18947&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Combined immunodeficiency with faciooculoskeletal anomalies</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/27234970">Complications of Treatment in Youth with HIV.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eckard AR,
|
||
Fowler SL,
|
||
Haston JC,
|
||
Dixon TC</span><br />
|
||
<span class="medgenPMjournal">Curr HIV/AIDS Rep</span>
|
||
2016 Aug;13(4):226-33.
|
||
doi: 10.1007/s11904-016-0320-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27234970" target="_blank">27234970</a><a href="/pmc/articles/PMC4977197" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24290284">A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee YN,
|
||
Frugoni F,
|
||
Dobbs K,
|
||
Walter JE,
|
||
Giliani S,
|
||
Gennery AR,
|
||
Al-Herz W,
|
||
Haddad E,
|
||
LeDeist F,
|
||
Bleesing JH,
|
||
Henderson LA,
|
||
Pai SY,
|
||
Nelson RP,
|
||
El-Ghoneimy DH,
|
||
El-Feky RA,
|
||
Reda SM,
|
||
Hossny E,
|
||
Soler-Palacin P,
|
||
Fuleihan RL,
|
||
Patel NC,
|
||
Massaad MJ,
|
||
Geha RS,
|
||
Puck JM,
|
||
Palma P,
|
||
Cancrini C,
|
||
Chen K,
|
||
Vihinen M,
|
||
Alt FW,
|
||
Notarangelo LD</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2014 Apr;133(4):1099-108.
|
||
Epub 2013 Nov 28
|
||
doi: 10.1016/j.jaci.2013.10.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24290284" target="_blank">24290284</a><a href="/pmc/articles/PMC4005599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(combined%20immunodeficiency%20with%20faciooculoskeletal%20anomalies)%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 (106)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/38194689">Clinical and functional spectrum of RAC2-related immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donkó Á,
|
||
Sharapova SO,
|
||
Kabat J,
|
||
Ganesan S,
|
||
Hauck FH,
|
||
Bergerson JRE,
|
||
Marois L,
|
||
Abbott J,
|
||
Moshous D,
|
||
Williams KW,
|
||
Campbell N,
|
||
Martin PL,
|
||
Lagresle-Peyrou C,
|
||
Trojan T,
|
||
Kuzmenko NB,
|
||
Deordieva EA,
|
||
Raykina EV,
|
||
Abers MS,
|
||
Abolhassani H,
|
||
Barlogis V,
|
||
Milla C,
|
||
Hall G,
|
||
Mousallem T,
|
||
Church J,
|
||
Kapoor N,
|
||
Cros G,
|
||
Chapdelaine H,
|
||
Franco-Jarava C,
|
||
Lopez-Lerma I,
|
||
Miano M,
|
||
Leiding JW,
|
||
Klein C,
|
||
Stasia MJ,
|
||
Fischer A,
|
||
Hsiao KC,
|
||
Martelius T,
|
||
Seppänen MRJ,
|
||
Barmettler S,
|
||
Walter J,
|
||
Masmas TN,
|
||
Mukhina AA,
|
||
Falcone EL,
|
||
Kracker S,
|
||
Shcherbina A,
|
||
Holland SM,
|
||
Leto TL,
|
||
Hsu AP</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2024 Apr 11;143(15):1476-1487.
|
||
doi: 10.1182/blood.2023022098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38194689" target="_blank">38194689</a><a href="/pmc/articles/PMC11033590" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36529768">Mapping age- and sex-specific HIV prevalence in adults in sub-Saharan Africa, 2000-2018.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haeuser E,
|
||
Serfes AL,
|
||
Cork MA,
|
||
Yang M,
|
||
Abbastabar H,
|
||
Abhilash ES,
|
||
Adabi M,
|
||
Adebayo OM,
|
||
Adekanmbi V,
|
||
Adeyinka DA,
|
||
Afzal S,
|
||
Ahinkorah BO,
|
||
Ahmadi K,
|
||
Ahmed MB,
|
||
Akalu Y,
|
||
Akinyemi RO,
|
||
Akunna CJ,
|
||
Alahdab F,
|
||
Alanezi FM,
|
||
Alanzi TM,
|
||
Alene KA,
|
||
Alhassan RK,
|
||
Alipour V,
|
||
Almasi-Hashiani A,
|
||
Alvis-Guzman N,
|
||
Ameyaw EK,
|
||
Amini S,
|
||
Amugsi DA,
|
||
Ancuceanu R,
|
||
Anvari D,
|
||
Appiah SCY,
|
||
Arabloo J,
|
||
Aremu O,
|
||
Asemahagn MA,
|
||
Jafarabadi MA,
|
||
Awedew AF,
|
||
Quintanilla BPA,
|
||
Ayanore MA,
|
||
Aynalem YA,
|
||
Azari S,
|
||
Azene ZN,
|
||
Darshan BB,
|
||
Babalola TK,
|
||
Baig AA,
|
||
Banach M,
|
||
Bärnighausen TW,
|
||
Bell AW,
|
||
Bhagavathula AS,
|
||
Bhardwaj N,
|
||
Bhardwaj P,
|
||
Bhattacharyya K,
|
||
Bijani A,
|
||
Bitew ZW,
|
||
Bohlouli S,
|
||
Bolarinwa OA,
|
||
Boloor A,
|
||
Bozicevic I,
|
||
Butt ZA,
|
||
Cárdenas R,
|
||
Carvalho F,
|
||
Charan J,
|
||
Chattu VK,
|
||
Chowdhury MAK,
|
||
Chu DT,
|
||
Cowden RG,
|
||
Dahlawi SMA,
|
||
Damiani G,
|
||
Darteh EKM,
|
||
Darwesh AM,
|
||
das Neves J,
|
||
Weaver ND,
|
||
De Leo D,
|
||
De Neve JW,
|
||
Deribe K,
|
||
Deuba K,
|
||
Dharmaratne S,
|
||
Dianatinasab M,
|
||
Diaz D,
|
||
Didarloo A,
|
||
Djalalinia S,
|
||
Dorostkar F,
|
||
Dubljanin E,
|
||
Duko B,
|
||
El Tantawi M,
|
||
El-Jaafary SI,
|
||
Eshrati B,
|
||
Eskandarieh S,
|
||
Eyawo O,
|
||
Ezeonwumelu IJ,
|
||
Ezzikouri S,
|
||
Farzadfar F,
|
||
Fattahi N,
|
||
Fauk NK,
|
||
Fernandes E,
|
||
Filip I,
|
||
Fischer F,
|
||
Foigt NA,
|
||
Foroutan M,
|
||
Fukumoto T,
|
||
Gad MM,
|
||
Gaidhane AM,
|
||
Gebregiorgis BG,
|
||
Gebremedhin KB,
|
||
Getacher L,
|
||
Ghadiri K,
|
||
Ghashghaee A,
|
||
Golechha M,
|
||
Gubari MIM,
|
||
Gugnani HC,
|
||
Guimarães RA,
|
||
Haider MR,
|
||
Haj-Mirzaian A,
|
||
Hamidi S,
|
||
Hashi A,
|
||
Hassanipour S,
|
||
Hassankhani H,
|
||
Hayat K,
|
||
Herteliu C,
|
||
Ho HC,
|
||
Holla R,
|
||
Hosseini M,
|
||
Hosseinzadeh M,
|
||
Hwang BF,
|
||
Ibitoye SE,
|
||
Ilesanmi OS,
|
||
Ilic IM,
|
||
Ilic MD,
|
||
Islam RM,
|
||
Iwu CCD,
|
||
Jakovljevic M,
|
||
Jha RP,
|
||
Ji JS,
|
||
Johnson KB,
|
||
Joseph N,
|
||
Joshua V,
|
||
Joukar F,
|
||
Jozwiak JJ,
|
||
Kalankesh LR,
|
||
Kalhor R,
|
||
Kamyari N,
|
||
Kanchan T,
|
||
Matin BK,
|
||
Karimi SE,
|
||
Kayode GA,
|
||
Karyani AK,
|
||
Keramati M,
|
||
Khan EA,
|
||
Khan G,
|
||
Khan MN,
|
||
Khatab K,
|
||
Khubchandani J,
|
||
Kim YJ,
|
||
Kisa A,
|
||
Kisa S,
|
||
Kopec JA,
|
||
Kosen S,
|
||
Laxminarayana SLK,
|
||
Koyanagi A,
|
||
Krishan K,
|
||
Defo BK,
|
||
Kugbey N,
|
||
Kulkarni V,
|
||
Kumar M,
|
||
Kumar N,
|
||
Kusuma D,
|
||
La Vecchia C,
|
||
Lal DK,
|
||
Landires I,
|
||
Larson HJ,
|
||
Lasrado S,
|
||
Lee PH,
|
||
Li S,
|
||
Liu X,
|
||
Maleki A,
|
||
Malik P,
|
||
Mansournia MA,
|
||
Martins-Melo FR,
|
||
Mendoza W,
|
||
Menezes RG,
|
||
Mengesha EW,
|
||
Meretoja TJ,
|
||
Mestrovic T,
|
||
Mirica A,
|
||
Moazen B,
|
||
Mohamad O,
|
||
Mohammad Y,
|
||
Mohammadian-Hafshejani A,
|
||
Mohammadpourhodki R,
|
||
Mohammed S,
|
||
Mohammed S,
|
||
Mokdad AH,
|
||
Moradi M,
|
||
Moraga P,
|
||
Mubarik S,
|
||
Mulu GBB,
|
||
Mwanri L,
|
||
Nagarajan AJ,
|
||
Naimzada MD,
|
||
Naveed M,
|
||
Nazari J,
|
||
Ndejjo R,
|
||
Negoi I,
|
||
Ngalesoni FN,
|
||
Nguefack-Tsague G,
|
||
Ngunjiri JW,
|
||
Nguyen CT,
|
||
Nguyen HLT,
|
||
Nnaji CA,
|
||
Noubiap JJ,
|
||
Nuñez-Samudio V,
|
||
Nwatah VE,
|
||
Oancea B,
|
||
Odukoya OO,
|
||
Olagunju AT,
|
||
Olakunde BO,
|
||
Olusanya BO,
|
||
Olusanya JO,
|
||
Bali AO,
|
||
Onwujekwe OE,
|
||
Orisakwe OE,
|
||
Otstavnov N,
|
||
Otstavnov SS,
|
||
Owolabi MO,
|
||
Mahesh PA,
|
||
Padubidri JR,
|
||
Pana A,
|
||
Pandey A,
|
||
Pandi-Perumal SR,
|
||
Kan FP,
|
||
Patton GC,
|
||
Pawar S,
|
||
Peprah EK,
|
||
Postma MJ,
|
||
Preotescu L,
|
||
Syed ZQ,
|
||
Rabiee N,
|
||
Radfar A,
|
||
Rafiei A,
|
||
Rahim F,
|
||
Rahimi-Movaghar V,
|
||
Rahmani AM,
|
||
Ramezanzadeh K,
|
||
Rana J,
|
||
Ranabhat CL,
|
||
Rao SJ,
|
||
Rawaf DL,
|
||
Rawaf S,
|
||
Rawassizadeh R,
|
||
Regassa LD,
|
||
Rezaei N,
|
||
Rezapour A,
|
||
Riaz MA,
|
||
Ribeiro AI,
|
||
Ross JM,
|
||
Rubagotti E,
|
||
Rumisha SF,
|
||
Rwegerera GM,
|
||
Moghaddam SS,
|
||
Sagar R,
|
||
Sahiledengle B,
|
||
Sahu M,
|
||
Salem MR,
|
||
Kafil HS,
|
||
Samy AM,
|
||
Sartorius B,
|
||
Sathian B,
|
||
Seidu AA,
|
||
Shaheen AA,
|
||
Shaikh MA,
|
||
Shamsizadeh M,
|
||
Shiferaw WS,
|
||
Shin JI,
|
||
Shrestha R,
|
||
Singh JA,
|
||
Skryabin VY,
|
||
Skryabina AA,
|
||
Soltani S,
|
||
Sufiyan MB,
|
||
Tabuchi T,
|
||
Tadesse EG,
|
||
Taveira N,
|
||
Tesfay FH,
|
||
Thapar R,
|
||
Tovani-Palone MR,
|
||
Tsegaye GW,
|
||
Umeokonkwo CD,
|
||
Unnikrishnan B,
|
||
Villafañe JH,
|
||
Violante FS,
|
||
Vo B,
|
||
Vu GT,
|
||
Wado YD,
|
||
Waheed Y,
|
||
Wamai RG,
|
||
Wang Y,
|
||
Ward P,
|
||
Wickramasinghe ND,
|
||
Wilson K,
|
||
Yaya S,
|
||
Yip P,
|
||
Yonemoto N,
|
||
Yu C,
|
||
Zastrozhin MS,
|
||
Zhang Y,
|
||
Zhang ZJ,
|
||
Hay SI,
|
||
Dwyer-Lindgren L;
|
||
Local Burden of Disease sub-Saharan Africa HIV Prevalence Collaborators</span><br />
|
||
<span class="medgenPMjournal">BMC Med</span>
|
||
2022 Dec 19;20(1):488.
|
||
doi: 10.1186/s12916-022-02639-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36529768" target="_blank">36529768</a><a href="/pmc/articles/PMC9760541" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34469512">Hematologic cancers in individuals infected by HIV.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carbone A,
|
||
Vaccher E,
|
||
Gloghini A</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2022 Feb 17;139(7):995-1012.
|
||
doi: 10.1182/blood.2020005469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34469512" target="_blank">34469512</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27188527">HIV infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deeks SG,
|
||
Overbaugh J,
|
||
Phillips A,
|
||
Buchbinder S</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2015 Oct 1;1:15035.
|
||
doi: 10.1038/nrdp.2015.35.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27188527" target="_blank">27188527</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20immunodeficiency%20with%20faciooculoskeletal%20anomalies%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 (654)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37995744">Central Nervous System Lymphoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah T,
|
||
Venur VA</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2023 Dec;43(6):825-832.
|
||
Epub 2023 Nov 23
|
||
doi: 10.1055/s-0043-1776783.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37995744" target="_blank">37995744</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35081554">Polyarteritis nodosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bilginer Y,
|
||
Ozen S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2022 Apr 1;34(2):229-233.
|
||
doi: 10.1097/MOP.0000000000001106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35081554" target="_blank">35081554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31690396">Approach to primary immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Devonshire AL,
|
||
Makhija M</span><br />
|
||
<span class="medgenPMjournal">Allergy Asthma Proc</span>
|
||
2019 Nov 1;40(6):465-469.
|
||
doi: 10.2500/aap.2019.40.4273.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31690396" target="_blank">31690396</a><a href="/pmc/articles/PMC11275965" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29690908">Adenosine deaminase deficiency: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flinn AM,
|
||
Gennery AR</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2018 Apr 24;13(1):65.
|
||
doi: 10.1186/s13023-018-0807-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29690908" target="_blank">29690908</a><a href="/pmc/articles/PMC5916829" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27884168">Ataxia telangiectasia: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rothblum-Oviatt C,
|
||
Wright J,
|
||
Lefton-Greif MA,
|
||
McGrath-Morrow SA,
|
||
Crawford TO,
|
||
Lederman HM</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2016 Nov 25;11(1):159.
|
||
doi: 10.1186/s13023-016-0543-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27884168" target="_blank">27884168</a><a href="/pmc/articles/PMC5123280" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20immunodeficiency%20with%20faciooculoskeletal%20anomalies%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 (523)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38194689">Clinical and functional spectrum of RAC2-related immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donkó Á,
|
||
Sharapova SO,
|
||
Kabat J,
|
||
Ganesan S,
|
||
Hauck FH,
|
||
Bergerson JRE,
|
||
Marois L,
|
||
Abbott J,
|
||
Moshous D,
|
||
Williams KW,
|
||
Campbell N,
|
||
Martin PL,
|
||
Lagresle-Peyrou C,
|
||
Trojan T,
|
||
Kuzmenko NB,
|
||
Deordieva EA,
|
||
Raykina EV,
|
||
Abers MS,
|
||
Abolhassani H,
|
||
Barlogis V,
|
||
Milla C,
|
||
Hall G,
|
||
Mousallem T,
|
||
Church J,
|
||
Kapoor N,
|
||
Cros G,
|
||
Chapdelaine H,
|
||
Franco-Jarava C,
|
||
Lopez-Lerma I,
|
||
Miano M,
|
||
Leiding JW,
|
||
Klein C,
|
||
Stasia MJ,
|
||
Fischer A,
|
||
Hsiao KC,
|
||
Martelius T,
|
||
Seppänen MRJ,
|
||
Barmettler S,
|
||
Walter J,
|
||
Masmas TN,
|
||
Mukhina AA,
|
||
Falcone EL,
|
||
Kracker S,
|
||
Shcherbina A,
|
||
Holland SM,
|
||
Leto TL,
|
||
Hsu AP</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2024 Apr 11;143(15):1476-1487.
|
||
doi: 10.1182/blood.2023022098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38194689" target="_blank">38194689</a><a href="/pmc/articles/PMC11033590" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27234970">Complications of Treatment in Youth with HIV.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eckard AR,
|
||
Fowler SL,
|
||
Haston JC,
|
||
Dixon TC</span><br />
|
||
<span class="medgenPMjournal">Curr HIV/AIDS Rep</span>
|
||
2016 Aug;13(4):226-33.
|
||
doi: 10.1007/s11904-016-0320-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27234970" target="_blank">27234970</a><a href="/pmc/articles/PMC4977197" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27188527">HIV infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deeks SG,
|
||
Overbaugh J,
|
||
Phillips A,
|
||
Buchbinder S</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2015 Oct 1;1:15035.
|
||
doi: 10.1038/nrdp.2015.35.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27188527" target="_blank">27188527</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20055767">Tuberculous meningitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garg RK</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2010 Aug;122(2):75-90.
|
||
Epub 2010 Jan 6
|
||
doi: 10.1111/j.1600-0404.2009.01316.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20055767" target="_blank">20055767</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3296821">Chediak-Higashi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barak Y,
|
||
Nir E</span><br />
|
||
<span class="medgenPMjournal">Am J Pediatr Hematol Oncol</span>
|
||
1987 Spring;9(1):42-55.
|
||
doi: 10.1097/00043426-198721000-00008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3296821" target="_blank">3296821</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20immunodeficiency%20with%20faciooculoskeletal%20anomalies%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 (636)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37995744">Central Nervous System Lymphoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah T,
|
||
Venur VA</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2023 Dec;43(6):825-832.
|
||
Epub 2023 Nov 23
|
||
doi: 10.1055/s-0043-1776783.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37995744" target="_blank">37995744</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/35081554">Polyarteritis nodosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bilginer Y,
|
||
Ozen S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2022 Apr 1;34(2):229-233.
|
||
doi: 10.1097/MOP.0000000000001106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35081554" target="_blank">35081554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27884168">Ataxia telangiectasia: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rothblum-Oviatt C,
|
||
Wright J,
|
||
Lefton-Greif MA,
|
||
McGrath-Morrow SA,
|
||
Crawford TO,
|
||
Lederman HM</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2016 Nov 25;11(1):159.
|
||
doi: 10.1186/s13023-016-0543-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27884168" target="_blank">27884168</a><a href="/pmc/articles/PMC5123280" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11914001">HIV-related thrombocytopenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scaradavou A</span><br />
|
||
<span class="medgenPMjournal">Blood Rev</span>
|
||
2002 Mar;16(1):73-6.
|
||
doi: 10.1054/blre.2001.0188.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11914001" target="_blank">11914001</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20immunodeficiency%20with%20faciooculoskeletal%20anomalies%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 (301)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38194689">Clinical and functional spectrum of RAC2-related immunodeficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donkó Á,
|
||
Sharapova SO,
|
||
Kabat J,
|
||
Ganesan S,
|
||
Hauck FH,
|
||
Bergerson JRE,
|
||
Marois L,
|
||
Abbott J,
|
||
Moshous D,
|
||
Williams KW,
|
||
Campbell N,
|
||
Martin PL,
|
||
Lagresle-Peyrou C,
|
||
Trojan T,
|
||
Kuzmenko NB,
|
||
Deordieva EA,
|
||
Raykina EV,
|
||
Abers MS,
|
||
Abolhassani H,
|
||
Barlogis V,
|
||
Milla C,
|
||
Hall G,
|
||
Mousallem T,
|
||
Church J,
|
||
Kapoor N,
|
||
Cros G,
|
||
Chapdelaine H,
|
||
Franco-Jarava C,
|
||
Lopez-Lerma I,
|
||
Miano M,
|
||
Leiding JW,
|
||
Klein C,
|
||
Stasia MJ,
|
||
Fischer A,
|
||
Hsiao KC,
|
||
Martelius T,
|
||
Seppänen MRJ,
|
||
Barmettler S,
|
||
Walter J,
|
||
Masmas TN,
|
||
Mukhina AA,
|
||
Falcone EL,
|
||
Kracker S,
|
||
Shcherbina A,
|
||
Holland SM,
|
||
Leto TL,
|
||
Hsu AP</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2024 Apr 11;143(15):1476-1487.
|
||
doi: 10.1182/blood.2023022098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38194689" target="_blank">38194689</a><a href="/pmc/articles/PMC11033590" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38129713">Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bilgic Eltan S,
|
||
Nain E,
|
||
Catak MC,
|
||
Ezen E,
|
||
Sefer AP,
|
||
Karimi N,
|
||
Kiykim A,
|
||
Kolukisa B,
|
||
Baser D,
|
||
Bulutoglu A,
|
||
Kasap N,
|
||
Yorgun Altunbas M,
|
||
Yalcin Gungoren E,
|
||
Kendir Demirkol Y,
|
||
Kutlug S,
|
||
Hancioglu G,
|
||
Dilek F,
|
||
Yildiran A,
|
||
Ozen A,
|
||
Karakoc-Aydiner E,
|
||
Erman B,
|
||
Baris S</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2023 Dec 22;44(1):26.
|
||
doi: 10.1007/s10875-023-01620-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38129713" target="_blank">38129713</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/23200671">Analyzing the cancer methylome through targeted bisulfite sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee EJ,
|
||
Luo J,
|
||
Wilson JM,
|
||
Shi H</span><br />
|
||
<span class="medgenPMjournal">Cancer Lett</span>
|
||
2013 Nov 1;340(2):171-8.
|
||
Epub 2012 Nov 28
|
||
doi: 10.1016/j.canlet.2012.10.040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23200671" target="_blank">23200671</a><a href="/pmc/articles/PMC3616138" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22236427">DOCK8 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Su HC,
|
||
Jing H,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
2011 Dec;1246:26-33.
|
||
doi: 10.1111/j.1749-6632.2011.06295.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22236427" target="_blank">22236427</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20immunodeficiency%20with%20faciooculoskeletal%20anomalies%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 (434)</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/33541012">Does antiretroviral therapy cause congenital malformations? A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alemu FM,
|
||
Yalew AW</span><br />
|
||
<span class="medgenPMjournal">Epidemiol Health</span>
|
||
2021;43:e2021008.
|
||
Epub 2021 Feb 3
|
||
doi: 10.4178/epih.e2021008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33541012" target="_blank">33541012</a><a href="/pmc/articles/PMC8060528" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31689712">Cryptococcosis in pregnancy and the postpartum period: Case series and systematic review with recommendations for management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pastick KA,
|
||
Nalintya E,
|
||
Tugume L,
|
||
Ssebambulidde K,
|
||
Stephens N,
|
||
Evans EE,
|
||
Ndyetukira JF,
|
||
Nuwagira E,
|
||
Skipper C,
|
||
Muzoora C,
|
||
Meya DB,
|
||
Rhein J,
|
||
Boulware DR,
|
||
Rajasingham R</span><br />
|
||
<span class="medgenPMjournal">Med Mycol</span>
|
||
2020 Apr 1;58(3):282-292.
|
||
doi: 10.1093/mmy/myz084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31689712" target="_blank">31689712</a><a href="/pmc/articles/PMC7179752" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28537936">Zidovudine use in pregnancy and congenital malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rough K,
|
||
Sun JW,
|
||
Seage GR 3rd,
|
||
Williams PL,
|
||
Huybrechts KF,
|
||
Bateman BT,
|
||
Hernandez-Diaz S</span><br />
|
||
<span class="medgenPMjournal">AIDS</span>
|
||
2017 Jul 31;31(12):1733-1743.
|
||
doi: 10.1097/QAD.0000000000001549.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28537936" target="_blank">28537936</a><a href="/pmc/articles/PMC5534355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27864000">Timing of initiation of antiretroviral therapy and adverse pregnancy outcomes: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uthman OA,
|
||
Nachega JB,
|
||
Anderson J,
|
||
Kanters S,
|
||
Mills EJ,
|
||
Renaud F,
|
||
Essajee S,
|
||
Doherty MC,
|
||
Mofenson LM</span><br />
|
||
<span class="medgenPMjournal">Lancet HIV</span>
|
||
2017 Jan;4(1):e21-e30.
|
||
Epub 2016 Nov 16
|
||
doi: 10.1016/S2352-3018(16)30195-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27864000" target="_blank">27864000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24853309">Safety of cotrimoxazole in pregnancy: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ford N,
|
||
Shubber Z,
|
||
Jao J,
|
||
Abrams EJ,
|
||
Frigati L,
|
||
Mofenson L</span><br />
|
||
<span class="medgenPMjournal">J Acquir Immune Defic Syndr</span>
|
||
2014 Aug 15;66(5):512-21.
|
||
doi: 10.1097/QAI.0000000000000211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24853309" target="_blank">24853309</a><a href="/pmc/articles/PMC4331013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20immunodeficiency%20with%20faciooculoskeletal%20anomalies%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 (17)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2750068%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2750068%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2750068%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=613328" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=221139" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Combined%20immunodeficiency%20with%20faciooculoskeletal%20anomalies" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(combined%20immunodeficiency%20with%20faciooculoskeletal%20anomalies)%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(%22Combined%20immunodeficiency%20with%20faciooculoskeletal%20anomalies%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=602839%20614718" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5293[geneid]" target="_blank">View PIK3CD variations in ClinVar</a></li><li><a href="/clinvar/?term=90417[geneid]" target="_blank">View KNSTRN variations in ClinVar</a></li><li><a href="/nuccore/301500640" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=613328" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/roifman_chitayat_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Combined%20immunodeficiency%20with%20faciooculoskeletal%20anomalies" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17139/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Combined%20immunodeficiency%20with%20faciooculoskeletal%20anomalies" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Combined%20immunodeficiency%20with%20faciooculoskeletal%20anomalies%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=442377" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=442377" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2750068[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2750068[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=442377" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=442377" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=442377" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=442377" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=442377" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
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|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc325f84f3725e59677308">Combined immunodeficiency with faciooculoskeletal anomalies</a>
|
||
<div class="ralinkpop offscreen_noflow">Combined immunodeficiency with faciooculoskeletal anomalies<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc325df4a390645e6a831a">C2750068[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc325db15b832ebc221991">C1835931[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(61)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C1835931[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cc325ca68b6b5afc9e7fd6">Combined immunodeficiency due to partial RAG1 deficiency</a>
|
||
<div class="ralinkpop offscreen_noflow">Combined immunodeficiency due to partial RAG1 deficiency<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc325ba68b6b5afc9e7b8f">C1835931[conceptid] <span class="number">(1)</span></a>
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