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<meta name="keywords" content="C4015130, disease or syndrome, egfr, egfr neonatal inflammatory skin and bowel disease, inflammatory skin and bowel disease, neonatal, 2, inflammatory skin and bowel disease, neonatal, type 2, neonatal inflammatory skin and bowel disease caused by mutation in egfr, nisbd2, nncis, 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="Neonatal nephrocutaneous inflammatory syndrome (NNCIS) is an autosomal recessive disorder characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction. Some patients have chronic diarrhea, and necrotizing enterocolitis with intestinal perforation has been observed. Other features include facial dysmorphisms and cardiac anomalies. Most patients require ventilatory and circulatory support at birth, exhibit failure to thrive, experience recurrent infections with sepsis as a common complication, and die within 6 months (Mazurova et al., 2020; Labbouz et al., 2023). Reviews Takeichi and Akiyama (2021) reviewed published reports of patients with mutation in the EGFR gene, whose features included intrauterine growth restriction; thin, translucent, and fragile skin (14 of 15 cases); skin desquamation (10 of 17 cases); ichthyosis (9 of 17 cases); recurrent skin infections and sepsis (9 of 12 cases); nephromegaly (10 of 16 cases); and congenital heart defects (7 of 17 cases). Other observed features included erythroderma, tubulopathy, necrotizing enterocolitis/intestinal perforation, cryptorchidism, hyperimmunoglobulin E, and dentinogenesis imperfecta. Almost all children died within 2.5 years after birth. The authors suggested that EGFR-associated systemic inflammatory diseases should be considered a part of the clinical spectrum of 'autoinflammatory keratinization diseases' (AiKDs)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=863567
|
||
ConceptID=C4015130
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Inflammatory skin and bowel disease, neonatal, 2<span class="h1sub">(NNCIS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863567</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:">C4015130</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>NNCIS</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="EGFR - ID: 1956 - NCBI Gene" href="/gene/1956" class="medgenPMinfo">EGFR</a> (7p11.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014481" target="_blank">MONDO:0014481</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616069" target="_blank">616069</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">Neonatal nephrocutaneous inflammatory syndrome (NNCIS) is an autosomal recessive disorder characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction. Some patients have chronic diarrhea, and necrotizing enterocolitis with intestinal perforation has been observed. Other features include facial dysmorphisms and cardiac anomalies. Most patients require ventilatory and circulatory support at birth, exhibit failure to thrive, experience recurrent infections with sepsis as a common complication, and die within 6 months (Mazurova et al., 2020; Labbouz et al., 2023). Reviews Takeichi and Akiyama (2021) reviewed published reports of patients with mutation in the EGFR gene, whose features included intrauterine growth restriction; thin, translucent, and fragile skin (14 of 15 cases); skin desquamation (10 of 17 cases); ichthyosis (9 of 17 cases); recurrent skin infections and sepsis (9 of 12 cases); nephromegaly (10 of 16 cases); and congenital heart defects (7 of 17 cases). Other observed features included erythroderma, tubulopathy, necrotizing enterocolitis/intestinal perforation, cryptorchidism, hyperimmunoglobulin E, and dentinogenesis imperfecta. Almost all children died within 2.5 years after birth. The authors suggested that EGFR-associated systemic inflammatory diseases should be considered a part of the clinical spectrum of 'autoinflammatory keratinization diseases' (AiKDs). [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_1617"><div><strong>Coarctation of aorta</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1617</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.">C0003492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1617">Feature record</a> | <a href="/medgen?term=%22Coarctation%20of%20aorta%22%5BClinical%20Features%5D%20OR%201617%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_12124"><div><strong>Vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12124</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.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12124">Feature record</a> | <a href="/medgen?term=%22Vomiting%22%5BClinical%20Features%5D%20OR%2012124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75635"><div><strong>Secretory diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75635</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0267557</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75635">Feature record</a> | <a href="/medgen?term=%22Secretory%20diarrhea%22%5BClinical%20Features%5D%20OR%2075635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195802"><div><strong>Recurrent pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195802</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.">C0694550</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195802">Feature record</a> | <a href="/medgen?term=%22Recurrent%20pneumonia%22%5BClinical%20Features%5D%20OR%20195802%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_863573"><div><strong>Recurrent bronchiolitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863573</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.">C4015136</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863573">Feature record</a> | <a href="/medgen?term=%22Recurrent%20bronchiolitis%22%5BClinical%20Features%5D%20OR%20863573%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116018"><div><strong>Increased circulating IgE concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116018</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.">C0236175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased overall level of immunoglobulin E in blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116018">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20IgE%20concentration%22%5BClinical%20Features%5D%20OR%20116018%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488804"><div><strong>Pustule</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488804</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.">C0241157</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488804">Feature record</a> | <a href="/medgen?term=%22Pustule%22%5BClinical%20Features%5D%20OR%20488804%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8273"><div><strong>Dehydration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8273</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.">C0011175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8273">Feature record</a> | <a href="/medgen?term=%22Dehydration%22%5BClinical%20Features%5D%20OR%208273%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65136"><div><strong>Epidermal acanthosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65136</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.">C0221270</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65136">Feature record</a> | <a href="/medgen?term=%22Epidermal%20acanthosis%22%5BClinical%20Features%5D%20OR%2065136%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_507324"><div><strong>Papule</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>507324</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.">C0332563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/507324">Feature record</a> | <a href="/medgen?term=%22Papule%22%5BClinical%20Features%5D%20OR%20507324%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342955"><div><strong>Long eyelashes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342955</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.">C1853738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342955">Feature record</a> | <a href="/medgen?term=%22Long%20eyelashes%22%5BClinical%20Features%5D%20OR%20342955%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6936"><div><strong>Polyhydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6936</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.">C0020224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excess amniotic fluid in the uterus during pregnancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6936">Feature record</a> | <a href="/medgen?term=%22Polyhydramnios%22%5BClinical%20Features%5D%20OR%206936%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 metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dehydration</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1617" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coarctation of aorta</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secretory diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vomiting</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_116018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating IgE concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pustule</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65136" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermal acanthosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long eyelashes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_507324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Papule</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_863573" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent bronchiolitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent pneumonia</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32020767">Anti-TNF treatment during pregnancy and birth outcomes: A population-based study from Denmark, Finland, and Sweden.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bröms G,
|
||
Kieler H,
|
||
Ekbom A,
|
||
Gissler M,
|
||
Hellgren K,
|
||
Lahesmaa-Korpinen AM,
|
||
Pedersen L,
|
||
Schmitt-Egenolf M,
|
||
Sørensen HT,
|
||
Granath F</span><br />
|
||
<span class="medgenPMjournal">Pharmacoepidemiol Drug Saf</span>
|
||
2020 Mar;29(3):316-327.
|
||
Epub 2020 Feb 4
|
||
doi: 10.1002/pds.4930.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32020767" target="_blank">32020767</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27801751">Extraintestinal Manifestations of Pediatric Inflammatory Bowel Disease: Prevalence, Presentation, and Anti-TNF Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greuter T,
|
||
Bertoldo F,
|
||
Rechner R,
|
||
Straumann A,
|
||
Biedermann L,
|
||
Zeitz J,
|
||
Misselwitz B,
|
||
Scharl M,
|
||
Rogler G,
|
||
Safroneeva E,
|
||
Ali RAR,
|
||
Braegger C,
|
||
Heyland K,
|
||
Mueller P,
|
||
Nydegger A,
|
||
Petit LM,
|
||
Schibli S,
|
||
Furlano RI,
|
||
Spalinger J,
|
||
Schäppi M,
|
||
Zamora S,
|
||
Froehlich F,
|
||
Herzog D,
|
||
Schoepfer AM,
|
||
Vavricka SR;
|
||
Swiss IBD Cohort Study Group</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2017 Aug;65(2):200-206.
|
||
doi: 10.1097/MPG.0000000000001455.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27801751" target="_blank">27801751</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(inflammatory%20skin%20and%20bowel%20disease%2C%20neonatal%2C%202)%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 (2)</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/37807602">A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Esfandiari N,
|
||
Vandyke S,
|
||
Porter HJ,
|
||
Shea K,
|
||
Morley K,
|
||
Greene L</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2024 Mar-Apr;41(2):298-301.
|
||
Epub 2023 Oct 8
|
||
doi: 10.1111/pde.15432.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37807602" target="_blank">37807602</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38019142">Frequency of Epidermal Growth Factor Receptor Gene Variant in Roma Population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mačeková S,
|
||
Mathia M,
|
||
Dojčáková D</span><br />
|
||
<span class="medgenPMjournal">Genet Test Mol Biomarkers</span>
|
||
2023 Nov;27(11):357-359.
|
||
doi: 10.1089/gtmb.2023.0377.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38019142" target="_blank">38019142</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27801751">Extraintestinal Manifestations of Pediatric Inflammatory Bowel Disease: Prevalence, Presentation, and Anti-TNF Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greuter T,
|
||
Bertoldo F,
|
||
Rechner R,
|
||
Straumann A,
|
||
Biedermann L,
|
||
Zeitz J,
|
||
Misselwitz B,
|
||
Scharl M,
|
||
Rogler G,
|
||
Safroneeva E,
|
||
Ali RAR,
|
||
Braegger C,
|
||
Heyland K,
|
||
Mueller P,
|
||
Nydegger A,
|
||
Petit LM,
|
||
Schibli S,
|
||
Furlano RI,
|
||
Spalinger J,
|
||
Schäppi M,
|
||
Zamora S,
|
||
Froehlich F,
|
||
Herzog D,
|
||
Schoepfer AM,
|
||
Vavricka SR;
|
||
Swiss IBD Cohort Study Group</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2017 Aug;65(2):200-206.
|
||
doi: 10.1097/MPG.0000000000001455.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27801751" target="_blank">27801751</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24131389">Malignancies in patients with inflammatory bowel disease: a nationwide register study in Finland.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jussila A,
|
||
Virta LJ,
|
||
Pukkala E,
|
||
Färkkilä MA</span><br />
|
||
<span class="medgenPMjournal">Scand J Gastroenterol</span>
|
||
2013 Dec;48(12):1405-13.
|
||
Epub 2013 Oct 16
|
||
doi: 10.3109/00365521.2013.846402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24131389" target="_blank">24131389</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23711932">Monogenic autoinflammatory diseases: concept and clinical manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Almeida de Jesus A,
|
||
Goldbach-Mansky R</span><br />
|
||
<span class="medgenPMjournal">Clin Immunol</span>
|
||
2013 Jun;147(3):155-74.
|
||
Epub 2013 Apr 9
|
||
doi: 10.1016/j.clim.2013.03.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23711932" target="_blank">23711932</a><a href="/pmc/articles/PMC3769788" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inflammatory%20skin%20and%20bowel%20disease%2C%20neonatal%2C%202%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 (14)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38231408">"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olyha SJ,
|
||
O'Connor SK,
|
||
Kribis M,
|
||
Bucklin ML,
|
||
Uthaya Kumar DB,
|
||
Tyler PM,
|
||
Alam F,
|
||
Jones KM,
|
||
Sheikha H,
|
||
Konnikova L,
|
||
Lakhani SA,
|
||
Montgomery RR,
|
||
Catanzaro J,
|
||
Du H,
|
||
DiGiacomo DV,
|
||
Rothermel H,
|
||
Moran CJ,
|
||
Fiedler K,
|
||
Warner N,
|
||
Hoppenreijs EPAH,
|
||
van der Made CI,
|
||
Hoischen A,
|
||
Olbrich P,
|
||
Neth O,
|
||
Rodríguez-Martínez A,
|
||
Lucena Soto JM,
|
||
van Rossum AMC,
|
||
Dalm VASH,
|
||
Muise AM,
|
||
Lucas CL</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2024 Jan 17;44(2):44.
|
||
doi: 10.1007/s10875-023-01610-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38231408" target="_blank">38231408</a><a href="/pmc/articles/PMC10929603" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37807602">A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Esfandiari N,
|
||
Vandyke S,
|
||
Porter HJ,
|
||
Shea K,
|
||
Morley K,
|
||
Greene L</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2024 Mar-Apr;41(2):298-301.
|
||
Epub 2023 Oct 8
|
||
doi: 10.1111/pde.15432.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37807602" target="_blank">37807602</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32015234">Hidradenitis Suppurativa in Sweden: A Registry-Based Cross-Sectional Study of 13,538 Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Killasli H,
|
||
Sartorius K,
|
||
Emtestam L,
|
||
Svensson Å</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
2020;236(4):281-288.
|
||
Epub 2020 Feb 3
|
||
doi: 10.1159/000505545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32015234" target="_blank">32015234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27801751">Extraintestinal Manifestations of Pediatric Inflammatory Bowel Disease: Prevalence, Presentation, and Anti-TNF Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greuter T,
|
||
Bertoldo F,
|
||
Rechner R,
|
||
Straumann A,
|
||
Biedermann L,
|
||
Zeitz J,
|
||
Misselwitz B,
|
||
Scharl M,
|
||
Rogler G,
|
||
Safroneeva E,
|
||
Ali RAR,
|
||
Braegger C,
|
||
Heyland K,
|
||
Mueller P,
|
||
Nydegger A,
|
||
Petit LM,
|
||
Schibli S,
|
||
Furlano RI,
|
||
Spalinger J,
|
||
Schäppi M,
|
||
Zamora S,
|
||
Froehlich F,
|
||
Herzog D,
|
||
Schoepfer AM,
|
||
Vavricka SR;
|
||
Swiss IBD Cohort Study Group</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2017 Aug;65(2):200-206.
|
||
doi: 10.1097/MPG.0000000000001455.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27801751" target="_blank">27801751</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24131389">Malignancies in patients with inflammatory bowel disease: a nationwide register study in Finland.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jussila A,
|
||
Virta LJ,
|
||
Pukkala E,
|
||
Färkkilä MA</span><br />
|
||
<span class="medgenPMjournal">Scand J Gastroenterol</span>
|
||
2013 Dec;48(12):1405-13.
|
||
Epub 2013 Oct 16
|
||
doi: 10.3109/00365521.2013.846402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24131389" target="_blank">24131389</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inflammatory%20skin%20and%20bowel%20disease%2C%20neonatal%2C%202%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 (12)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32020767">Anti-TNF treatment during pregnancy and birth outcomes: A population-based study from Denmark, Finland, and Sweden.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bröms G,
|
||
Kieler H,
|
||
Ekbom A,
|
||
Gissler M,
|
||
Hellgren K,
|
||
Lahesmaa-Korpinen AM,
|
||
Pedersen L,
|
||
Schmitt-Egenolf M,
|
||
Sørensen HT,
|
||
Granath F</span><br />
|
||
<span class="medgenPMjournal">Pharmacoepidemiol Drug Saf</span>
|
||
2020 Mar;29(3):316-327.
|
||
Epub 2020 Feb 4
|
||
doi: 10.1002/pds.4930.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32020767" target="_blank">32020767</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27801751">Extraintestinal Manifestations of Pediatric Inflammatory Bowel Disease: Prevalence, Presentation, and Anti-TNF Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greuter T,
|
||
Bertoldo F,
|
||
Rechner R,
|
||
Straumann A,
|
||
Biedermann L,
|
||
Zeitz J,
|
||
Misselwitz B,
|
||
Scharl M,
|
||
Rogler G,
|
||
Safroneeva E,
|
||
Ali RAR,
|
||
Braegger C,
|
||
Heyland K,
|
||
Mueller P,
|
||
Nydegger A,
|
||
Petit LM,
|
||
Schibli S,
|
||
Furlano RI,
|
||
Spalinger J,
|
||
Schäppi M,
|
||
Zamora S,
|
||
Froehlich F,
|
||
Herzog D,
|
||
Schoepfer AM,
|
||
Vavricka SR;
|
||
Swiss IBD Cohort Study Group</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2017 Aug;65(2):200-206.
|
||
doi: 10.1097/MPG.0000000000001455.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27801751" target="_blank">27801751</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27557840">Claims for disease-modifying therapy by Alberta non-insured health benefits clients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barnabe C,
|
||
Healy B,
|
||
Portolesi A,
|
||
Kaplan GG,
|
||
Hemmelgarn B,
|
||
Weaselhead C</span><br />
|
||
<span class="medgenPMjournal">BMC Health Serv Res</span>
|
||
2016 Aug 24;16(1):430.
|
||
doi: 10.1186/s12913-016-1685-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27557840" target="_blank">27557840</a><a href="/pmc/articles/PMC4997730" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24985400">Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magnani A,
|
||
Brosselin P,
|
||
Beauté J,
|
||
de Vergnes N,
|
||
Mouy R,
|
||
Debré M,
|
||
Suarez F,
|
||
Hermine O,
|
||
Lortholary O,
|
||
Blanche S,
|
||
Fischer A,
|
||
Mahlaoui N</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2014 Sep;134(3):655-662.e8.
|
||
Epub 2014 Jun 27
|
||
doi: 10.1016/j.jaci.2014.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24985400" target="_blank">24985400</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inflammatory%20skin%20and%20bowel%20disease%2C%20neonatal%2C%202%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30212871">Phenotypic Characterization of Very Early-Onset Inflammatory Bowel Disease with Interleukin-10 Signaling Deficiency: Based on a Large Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zheng C,
|
||
Huang Y,
|
||
Hu W,
|
||
Shi J,
|
||
Ye Z,
|
||
Qian X,
|
||
Huang Z,
|
||
Xue A,
|
||
Wang Y,
|
||
Lu J,
|
||
Tang Z,
|
||
Wu J,
|
||
Wang L,
|
||
Peng K,
|
||
Zhou Y,
|
||
Miao S,
|
||
Sun H</span><br />
|
||
<span class="medgenPMjournal">Inflamm Bowel Dis</span>
|
||
2019 Mar 14;25(4):756-766.
|
||
doi: 10.1093/ibd/izy289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30212871" target="_blank">30212871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27801751">Extraintestinal Manifestations of Pediatric Inflammatory Bowel Disease: Prevalence, Presentation, and Anti-TNF Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greuter T,
|
||
Bertoldo F,
|
||
Rechner R,
|
||
Straumann A,
|
||
Biedermann L,
|
||
Zeitz J,
|
||
Misselwitz B,
|
||
Scharl M,
|
||
Rogler G,
|
||
Safroneeva E,
|
||
Ali RAR,
|
||
Braegger C,
|
||
Heyland K,
|
||
Mueller P,
|
||
Nydegger A,
|
||
Petit LM,
|
||
Schibli S,
|
||
Furlano RI,
|
||
Spalinger J,
|
||
Schäppi M,
|
||
Zamora S,
|
||
Froehlich F,
|
||
Herzog D,
|
||
Schoepfer AM,
|
||
Vavricka SR;
|
||
Swiss IBD Cohort Study Group</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2017 Aug;65(2):200-206.
|
||
doi: 10.1097/MPG.0000000000001455.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27801751" target="_blank">27801751</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27557840">Claims for disease-modifying therapy by Alberta non-insured health benefits clients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barnabe C,
|
||
Healy B,
|
||
Portolesi A,
|
||
Kaplan GG,
|
||
Hemmelgarn B,
|
||
Weaselhead C</span><br />
|
||
<span class="medgenPMjournal">BMC Health Serv Res</span>
|
||
2016 Aug 24;16(1):430.
|
||
doi: 10.1186/s12913-016-1685-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27557840" target="_blank">27557840</a><a href="/pmc/articles/PMC4997730" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24985400">Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magnani A,
|
||
Brosselin P,
|
||
Beauté J,
|
||
de Vergnes N,
|
||
Mouy R,
|
||
Debré M,
|
||
Suarez F,
|
||
Hermine O,
|
||
Lortholary O,
|
||
Blanche S,
|
||
Fischer A,
|
||
Mahlaoui N</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2014 Sep;134(3):655-662.e8.
|
||
Epub 2014 Jun 27
|
||
doi: 10.1016/j.jaci.2014.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24985400" target="_blank">24985400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24131389">Malignancies in patients with inflammatory bowel disease: a nationwide register study in Finland.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jussila A,
|
||
Virta LJ,
|
||
Pukkala E,
|
||
Färkkilä MA</span><br />
|
||
<span class="medgenPMjournal">Scand J Gastroenterol</span>
|
||
2013 Dec;48(12):1405-13.
|
||
Epub 2013 Oct 16
|
||
doi: 10.3109/00365521.2013.846402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24131389" target="_blank">24131389</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inflammatory%20skin%20and%20bowel%20disease%2C%20neonatal%2C%202%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37429811">Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koshu K,
|
||
Muramatsu K,
|
||
Maru T,
|
||
Kurokawa Y,
|
||
Mizobe Y,
|
||
Yamagishi H,
|
||
Matsubara D,
|
||
Yokoyama K,
|
||
Jimbo E,
|
||
Kumagai H,
|
||
Sanada Y,
|
||
Sakuma Y,
|
||
Fukushima N,
|
||
Narita A,
|
||
Yamagata T,
|
||
Osaka H</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2023 Oct;45(9):517-522.
|
||
Epub 2023 Jul 8
|
||
doi: 10.1016/j.braindev.2023.06.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37429811" target="_blank">37429811</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32447396">Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kosukcu C,
|
||
Taskiran EZ,
|
||
Batu ED,
|
||
Sag E,
|
||
Bilginer Y,
|
||
Alikasifoglu M,
|
||
Ozen S</span><br />
|
||
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
||
2021 Feb 1;60(2):607-616.
|
||
doi: 10.1093/rheumatology/keaa165.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32447396" target="_blank">32447396</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30294846">Demographic and clinical features of hidradenitis suppurativa in Korea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang JH,
|
||
Moon J,
|
||
Kye YC,
|
||
Kim KJ,
|
||
Kim MN,
|
||
Ro YS,
|
||
Park MY,
|
||
Ahn HH,
|
||
Lee MW,
|
||
Lee WJ,
|
||
Lee JH,
|
||
Lee JB,
|
||
Jang MS,
|
||
Choi YS,
|
||
Choi YW,
|
||
Suh DH;
|
||
Korean Society for Acne Research</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2018 Dec;45(12):1389-1395.
|
||
Epub 2018 Oct 8
|
||
doi: 10.1111/1346-8138.14656.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30294846" target="_blank">30294846</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24885094">Recurrent wheezing is associated with intestinal protozoan infections in Warao Amerindian children in Venezuela: a cross-sectional survey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Overeem MM,
|
||
Verhagen LM,
|
||
Hermans PW,
|
||
del Nogal B,
|
||
Sánchez AM,
|
||
Acevedo NM,
|
||
Murga RR,
|
||
Roelfsema J,
|
||
Pinelli E,
|
||
de Waard JH</span><br />
|
||
<span class="medgenPMjournal">BMC Infect Dis</span>
|
||
2014 May 29;14:293.
|
||
doi: 10.1186/1471-2334-14-293.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24885094" target="_blank">24885094</a><a href="/pmc/articles/PMC4045948" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24131389">Malignancies in patients with inflammatory bowel disease: a nationwide register study in Finland.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jussila A,
|
||
Virta LJ,
|
||
Pukkala E,
|
||
Färkkilä MA</span><br />
|
||
<span class="medgenPMjournal">Scand J Gastroenterol</span>
|
||
2013 Dec;48(12):1405-13.
|
||
Epub 2013 Oct 16
|
||
doi: 10.3109/00365521.2013.846402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24131389" target="_blank">24131389</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inflammatory%20skin%20and%20bowel%20disease%2C%20neonatal%2C%202%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 (6)</a></div></div>
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4015130%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C4015130%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C4015130%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4015130%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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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=(inflammatory%20skin%20and%20bowel%20disease%2C%20neonatal%2C%202)%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(%22Inflammatory%20skin%20and%20bowel%20disease%2C%20neonatal%2C%202%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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