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<!--
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||
UID=40385
|
||
ConceptID=C0009319
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Colitis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40385</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.">C0009319</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>Colitides</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Colitis (64226004); Colon inflammation (64226004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002583">HP:0002583</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0005292" target="_blank">MONDO:0005292</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>
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||
<div class="portlet_content ln">Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface (epithelium) of the rectum and colon. The rectum and colon make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between the age of 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout a person's life, which causes recurring signs and symptoms.<br /><br />The most common symptoms of ulcerative colitis are cramping abdominal pain and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, bowel urgency, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation.<br /><br />Toxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves a widening (dilation) of the colon and an overwhelming inflammatory response. Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in those who have had ulcerative colitis for 8 years or more.<br /><br />Ulcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn's disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn's disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0009319[DISCUI]&test_type=Clinical" ref="ncbi_uid=40385">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=40385" ref="ncbi_uid=40385">V</a></span></span><span class="TLline">Colitis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/8970" ref="tree=MeSH" title="MedGen record for Disorder of gastrointestinal tract">Disorder of gastrointestinal tract</a></span><ul><li><span class="TLline"><a href="/medgen/7130" ref="tree=MeSH" title="MedGen record for Intestinal disorder">Intestinal disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1049" ref="tree=MeSH" title="MedGen record for Colonic disorder">Colonic disorder</a></span><ul><li><span class="matched_ds">Colitis</span><ul><li><span class="TLline"><a href="/medgen/451087" ref="tree=MeSH" title="MedGen record for Acute colitis">Acute colitis</a></span></li><li><span class="TLline"><a href="/medgen/208873" ref="tree=MeSH" title="MedGen record for Aggravated Colitis">Aggravated Colitis</a></span></li><li><span class="TLline"><a href="/medgen/39345" ref="tree=MeSH" title="MedGen record for Antibiotic enterocolitis">Antibiotic enterocolitis</a></span></li><li><span class="TLline"><a href="/medgen/417481" ref="tree=MeSH" title="MedGen record for Chronic Active Colitis">Chronic Active Colitis</a></span></li><li><span class="TLline"><a href="/medgen/451030" ref="tree=MeSH" title="MedGen record for Chronic colitis">Chronic colitis</a></span><ul><li><span class="TLline"><a href="/medgen/3532" ref="tree=MeSH" title="MedGen record for Ulcerative colitis">Ulcerative colitis</a></span><ul><li><span class="TLline"><a href="/medgen/886216" ref="tree=MeSH" title="MedGen record for Ulcerative Colitis Flare">Ulcerative Colitis Flare</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/87419" ref="tree=MeSH" title="MedGen record for Colitis caused by radiation">Colitis caused by radiation</a></span></li><li><span class="TLline"><a href="/medgen/57618" ref="tree=MeSH" title="MedGen record for Crohn disease of large bowel">Crohn disease of large bowel</a></span></li><li><span class="TLline"><a href="/medgen/4966" ref="tree=MeSH" title="MedGen record for Enterocolitis">Enterocolitis</a></span><ul><li><span class="TLline"><a href="/medgen/215130" ref="tree=MeSH" title="MedGen record for Infectious Enterocolitis">Infectious Enterocolitis</a></span></li><li><span class="TLline"><a href="/medgen/105440" ref="tree=MeSH" title="MedGen record for Necrotizing enterocolitis">Necrotizing enterocolitis</a></span></li><li><span class="TLline"><a href="/medgen/83363" ref="tree=MeSH" title="MedGen record for Neutropaenic enterocolitis">Neutropaenic enterocolitis</a></span><ul><li><span class="TLline"><a href="/medgen/82756" ref="tree=MeSH" title="MedGen record for Typhlitis">Typhlitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/906305" ref="tree=MeSH" title="MedGen record for Perinatal necrotizing enterocolitis">Perinatal necrotizing enterocolitis</a></span><ul><li><span class="TLline"><a href="/medgen/857748" ref="tree=MeSH" title="MedGen record for Necrotizing Enterocolitis Totalis">Necrotizing Enterocolitis Totalis</a></span></li><li><span class="TLline"><a href="/medgen/768711" ref="tree=MeSH" title="MedGen record for Suspected Necrotizing Enterocolitis">Suspected Necrotizing Enterocolitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8643" ref="tree=MeSH" title="MedGen record for Pseudomembranous Enterocolitis">Pseudomembranous Enterocolitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/232511" ref="tree=MeSH" title="MedGen record for Focal active colitis">Focal active colitis</a></span></li><li><span class="TLline"><a href="/medgen/75798" ref="tree=MeSH" title="MedGen record for Infectious colitis">Infectious colitis</a></span><ul><li><span class="TLline"><a href="/medgen/8512" ref="tree=MeSH" title="MedGen record for Amebic dysentery">Amebic dysentery</a></span></li><li><span class="TLline"><a href="/medgen/256154" ref="tree=MeSH" title="MedGen record for Clostridium Colitis">Clostridium Colitis</a></span><ul><li><span class="TLline"><a href="/medgen/65946" ref="tree=MeSH" title="MedGen record for Clostridium difficile colitis">Clostridium difficile colitis</a></span></li><li><span class="TLline"><a href="/medgen/882182" ref="tree=MeSH" title="MedGen record for Clostridium sordellii Colitis">Clostridium sordellii Colitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137956" ref="tree=MeSH" title="MedGen record for Cytomegalovirus colitis">Cytomegalovirus colitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57930" ref="tree=MeSH" title="MedGen record for Ischemic colitis">Ischemic colitis</a></span></li><li><span class="TLline"><a href="/medgen/98005" ref="tree=MeSH" title="MedGen record for Microscopic colitis">Microscopic colitis</a></span><ul><li><span class="TLline"><a href="/medgen/65945" ref="tree=MeSH" title="MedGen record for Collagenous colitis">Collagenous colitis</a></span></li><li><span class="TLline"><a href="/medgen/75633" ref="tree=MeSH" title="MedGen record for Eosinophilic colitis">Eosinophilic colitis</a></span></li><li><span class="TLline"><a href="/medgen/98006" ref="tree=MeSH" title="MedGen record for Lymphocytic colitis">Lymphocytic colitis</a></span><ul><li><span class="TLline"><a href="/medgen/272485" ref="tree=MeSH" title="MedGen record for Classic Lymphocytic Colitis">Classic Lymphocytic Colitis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1720692" ref="tree=MeSH" title="MedGen record for Pancolitis">Pancolitis</a></span></li><li><span class="TLline"><a href="/medgen/18651" ref="tree=MeSH" title="MedGen record for Proctocolitis">Proctocolitis</a></span><ul><li><span class="TLline"><a href="/medgen/18653" ref="tree=MeSH" title="MedGen record for Proctosigmoiditis">Proctosigmoiditis</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_336844"><div><strong>X-linked reticulate pigmentary disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336844</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.">C1845050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/336844">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_336848"><div><strong>X-linked lymphoproliferative disease due to XIAP deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336848</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:">C1845076</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">X-linked lymphoproliferative disease (XLP) in general is characterized by an inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis, dysgammaglobulinemia, and lymphoproliferative disease (malignant lymphoma). The condition primarily affects males. XLP has two recognizable subtypes, XLP1 (due to pathogenic variants in SH2D1A) and XLP2 (due to pathogenic variants in XIAP). HLH / fulminant infectious mononucleosis is the most common presentation regardless of subtype. HLH is characterized as an acute illness with prolonged and high fever, bi- or trilineage cytopenias, and hepatosplenomegaly, which is often severe or fatal. Death is generally secondary to liver failure or multisystem organ dysfunction. In those with XLP1, dys- or hypogammaglobulinemia can lead to varying degrees of humoral immune dysfunction associated with bronchiectasis and recurrent respiratory infections that, if untreated, may result in death. Lymphoproliferative disease (malignant lymphoma) and other lymphoproliferative diseases are specific to XLP1 and often develop in childhood, usually following EBV exposure. Rarer findings in those with XLP1 can include aplastic anemia, vasculitis, and lymphoid granulomatosis. Males with XLP2 are more likely to have HLH without EBV infection, recurrent episodes of HLH (which is not typically seen in those with XLP1), splenomegaly, and gastrointestinal disease, including enterocolitis and perirectal abscesses or fistulae. Rarely, individuals with XLP2 and inflammatory bowel disease have been reported to develop inflammatory liver disease, which can progress to fatal liver failure. Transient hypogammaglobulinemia has been rarely observed in those with XLP2. To date, neither lymphoproliferative disease nor common variable immunodeficiency has been reported in males with XLP2. Heterozygous females rarely have symptoms. There are, however, increasing numbers of reports of affected females with unfavorable (skewed) X-chromosome inactivation favoring the X chromosome with the pathogenic variant who develop HLH, inflammatory bowel disease, and erythema nodosum.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/336848">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_347455"><div><strong>Cutaneous photosensitivity-lethal colitis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347455</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.">C1857449</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/347455">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_346801"><div><strong>Pyogenic arthritis-pyoderma gangrenosum-acne syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346801</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.">C1858361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) is a rare autosomal dominant autoinflammatory disease that typically presents with recurrent sterile, erosive arthritis in childhood, occurring spontaneously or after minor trauma, occasionally resulting in significant joint destruction. By puberty, joint symptoms tend to subside and cutaneous symptoms predominate, including pathergy, frequently with abscesses at the sites of injections, severe cystic acne, and recurrent nonhealing sterile ulcers, often diagnosed as pyoderma gangrenosum (summary by Demidowich et al., 2012).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/346801">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_395288"><div><strong>Bare lymphocyte syndrome type 2, complementation group A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395288</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.">C1859534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). People with BLS II lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.\n\nBLS II is typically diagnosed in the first year of life. Most affected infants have persistent infections in the respiratory, gastrointestinal, and urinary tracts. Because of the infections, affected infants have difficulty absorbing nutrients (malabsorption), and they grow more slowly than their peers. Eventually, the persistent infections lead to organ failure. Without treatment, individuals with BLS II usually do not survive past early childhood.\n\nIn people with BLS II, infection-fighting white blood cells (lymphocytes) are missing specialized proteins on their surface called major histocompatibility complex (MHC) class II proteins, which is where the condition got its name. Because BLS II is the most common and best studied form of a group of related conditions, it is often referred to as simply bare lymphocyte syndrome (BLS).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/395288">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_442630"><div><strong>Inflammatory bowel disease 28</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442630</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.">C2751053</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An autosomal recessive condition caused by mutation(s) in the IL10RA gene, encoding interleukin-10 receptor subunit alpha. It is characterized by early-onset chronic relapsing intestinal inflammation.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/442630">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_416514"><div><strong>Familial hemophagocytic lymphohistiocytosis 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416514</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.">C2751293</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Familial hemophagocytic lymphohistiocytosis-5 with or without microvillus inclusion disease (FHL5) is an autosomal recessive hyperinflammatory disorder characterized clinically by fever, hepatosplenomegaly, pancytopenia, coagulation abnormalities, and other laboratory findings. Some patients have neurologic symptoms due to inflammatory CNS disease. There is uncontrolled and ineffective proliferation and activation of T lymphocytes, NK cells, and macrophages that infiltrate multiple organs, including liver, spleen, lymph nodes, and the CNS. The phenotype is variable: some patients may present in early infancy with severe diarrhea, prior to the onset of typical FHL features, whereas others present later in childhood and have a more protracted course without diarrhea. The early-onset diarrhea is due to enteropathy reminiscent of microvillus inclusion disease (see MVID, 251850). The enteropathy, which often necessitates parenteral feeding, may be the most life-threatening issue even after hematopoietic stem cell transplantation (HSCT). More variable features include sensorineural hearing loss and hypogammaglobulinemia. Treatment with immunosuppressive drugs and chemotherapy can ameliorate signs and symptoms of FHL in some patients, but the only curative therapy for FHL is HSCT. HSCT is not curative for enteropathy associated with the disorder, despite hematologic and immunologic reconstitution (summary by Meeths et al., 2010; Pagel et al., 2012; Stepensky et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL, HLH), see 267700.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/416514">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_419514"><div><strong>Hermansky-Pudlak syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419514</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.">C2931875</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency. Ocular findings include nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), and strabismus in many individuals. Hair color ranges from white to brown; skin color ranges from white to olive and is usually at least a shade lighter than that of other family members. The bleeding diathesis can result in variable degrees of bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and/or other surgeries. Pulmonary fibrosis, colitis, and/or neutropenia have been reported in individuals with pathogenic variants in some HPS-related genes. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early 30s and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/419514">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462759"><div><strong>Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462759</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.">C3151409</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462759">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_482919"><div><strong>Trichohepatoenteric syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482919</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.">C3281289</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease. Mild intellectual disability (ID) is seen in about 50% of affected individuals. Less common findings include congenital heart defects and platelet anomalies. To date 52 affected individuals have been reported.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/482919">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_766426"><div><strong>Combined immunodeficiency due to LRBA deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766426</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.">C3553512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/766426">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_767570"><div><strong>Dyskeratosis congenita, autosomal recessive 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767570</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.">C3554656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/767570">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_863204"><div><strong>Hyperlipoproteinemia, type 1D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863204</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.">C4014767</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hyperlipoproteinemia type ID is a rare autosomal recessive disorder characterized by impaired clearance of triglyceride (TG)-rich lipoproteins in plasma, leading to severe hypertriglyceridemia (chylomicronemia). Clinical features include eruptive xanthomas, lipemia retinalis, hepatosplenomegaly, episodes of abdominal pain, and pancreatitis. Onset usually occurs in adulthood (summary by Brahm and Hegele, 2013). For a discussion of genetic heterogeneity of familial chylomicronemia, see 238600.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/863204">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_863632"><div><strong>Immunodeficiency 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863632</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.">C4015195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/863632">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_898541"><div><strong>Autoinflammatory syndrome, familial, Behcet-like 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>898541</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.">C4225218</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Haploinsufficiency of A20 (HA20), a complex immune dysregulation disease, is characterized by recurrent systemic immune dysfunction (i.e., inflammation and/or immune deficiency). The most common manifestations and their frequency include: (1) recurrent painful oral/genital ulcers, typically during disease flares (>70% of persons); (2) recurrent fevers (~50%), typically lasting for three to seven days that can rarely progress to a cytokine storm and/or hemophagocytic lymphohistiocytosis; (3) skin involvement (~40%), including pustular rashes, folliculitis, vasculitic purpura, urticaria, lupus-like macular rashes, and eczematoid dermatitis; (4) gastrointestinal disease (~40%), ranging from dull abdominal pain (due to serositis, ulcers, or bowel inflammation) to severe inflammation with risk of bowel perforation; and (5) arthralgia/arthritis (~34%), typically relapsing and/or remitting nonerosive inflammatory polyarthritis with synovitis, and rarely resembling rheumatoid arthritis or psoriatic-like erosions. Other less common but significant findings include lymphoproliferation, most often lymphadenopathy; liver involvement, including severe hepatitis that if untreated can progress to cirrhosis and liver failure; neurologic disease including central nervous system vasculitis/vasculopathy (manifesting as severe headaches and cognitive changes) and in some individuals transient ischemic attacks. Other findings include aseptic meningitis, mononeuritis multiplex, chronic inflammatory demyelinating polyradiculoneuropathy, and/or peripheral neuropathy. HA20 demonstrates both variable expressivity (i.e., different systems may be involved simultaneously and/or over time in an affected individual) and intrafamilial variability (i.e., variability in clinical presentation among affected individuals within the same immediate or extended family).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/898541">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934735"><div><strong>Autoimmune disease, multisystem, infantile-onset, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934735</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.">C4310768</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934735">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648422"><div><strong>Severe combined immunodeficiency due to CARMIL2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648422</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.">C4748304</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-58 is an autosomal recessive primary immunologic disorder characterized by early-onset skin lesions, including eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses. Some patients may have gastrointestinal involvement, including inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Immunologic analysis shows defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired (summary by Wang et al., 2016 and Alazami et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648422">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1681890"><div><strong>Immunodeficiency 60</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1681890</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.">C5193072</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-60 and autoimmunity (IMD60) is an autosomal dominant primary immunologic disorder characterized by inflammatory bowel disease and recurrent sinopulmonary infections. The age at symptom onset is highly variable, ranging from infancy to mid-adulthood. Laboratory studies show dysregulation of both B and T cells, with variably decreased immunoglobulin production, decreased T-regulatory cells, and overall impaired lymphocyte maturation (summary by Afzali et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1681890">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1740270"><div><strong>Immunodeficiency 70</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1740270</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.">C5436501</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-70 (IMD70) is an autosomal dominant immunologic disorder characterized by severe cutaneous warts on the hands, feet, and face, suggesting increased susceptibility to human papillomavirus (HPV) infection. Affected individuals may also have recurrent bacterial infections, such as sinusitis, as well as feature of autoinflammation, such as colitis, celiac disease, and retinal vasculitis. Laboratory studies show decreased CD4+ T cells and decreased CD19+ B cells; hypogammaglobulinemia has also been observed (summary by Thaventhiran et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1740270">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1781281"><div><strong>Immunodeficiency 76</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781281</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.">C5543004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-76 (IMD76) is an autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood (summary by Lyszkiewicz et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1781281">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1787468"><div><strong>Immunodeficiency 14b, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1787468</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.">C5543301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive primary immunodeficiency-14B (IMD14B) is characterized by onset of recurrent infections in early childhood. Most patients have respiratory infections, but some may develop inflammatory bowel disease or osteomyelitis. Laboratory studies tend to show hypogammaglobulinemia and decreased levels of B cells. Although NK cell and T cell numbers are normal, there may be evidence of impaired immune-mediated cytotoxicity and defective T-cell function (summary by et al., 2018 and et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1787468">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1781752"><div><strong>Immunodeficiency 82 with systemic inflammation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781752</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.">C5543581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-82 with systemic inflammation (IMD82) is a complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP; 123260), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway. Treatment with SYK inhibitors rescued human cell abnormalities and resulted in clinical improvement in mice (Wang et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1781752">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1808082"><div><strong>Autoinflammatory syndrome, familial, X-linked, Behcet-like 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808082</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.">C5575495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked familial Behcet-like autoinflammatory syndrome-2 (AIFBL2) is an X-linked recessive disorder characterized by the onset of inflammatory symptoms in the first decade of life in male patients. Affected males often present with oral mucosal ulceration and skin inflammation. More variable features may include gastrointestinal ulceration, arthritis, recurrent fevers, and iron deficiency anemia. Laboratory studies are consistent with immune dysregulation manifest as increased inflammatory markers and variable immune cell abnormalities, such as decreased NK cells and low memory B cells. One patient presented with recurrent infections and immunodeficiency in addition to autoinflammation. The disorder results from a defect in ELF4, which normally acts as a negative regulator of inflammatory disease. Symptoms may respond to blockade of IL1 (see 147760) or TNFA (191160) (summary by Tyler et al., 2021 and Sun et al., 2022). For a discussion of genetic heterogeneity of AIFBL, see AIFBL1 (616744).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1808082">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1802936"><div><strong>Immunodeficiency 97 with autoinflammation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1802936</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.">C5676946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-97 with autoinflammation (IMD97) is an autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH; see FHL1, 267700). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported (summary by Takeda et al., 2019 and Thian et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1802936">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841161"><div><strong>Autoinflammatory disease, systemic, with vasculitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841161</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.">C5830525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Systemic autoinflammatory disease with vasculitis (SAIDV) is an autosomal dominant disorder that manifests soon after birth with features such as purpuric skin rash, fever, hepatosplenomegaly, and elevated C-reactive protein (CRP; 123260). Laboratory studies may show leukocytosis, thrombocytopenia, and autoantibodies. A subset of patients develop progressive liver involvement that may result in fibrosis. Other systemic features, such as periorbital edema, conjunctivitis, infections, abdominal pain, and arthralgia are usually observed. Mutations occur de novo. De Jesus et al. (2023) referred to this disorder as LAVLI (LYN kinase-associated vasculopathy and liver fibrosis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841161">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1856440"><div><strong>Autoinflammation with episodic fever and immune dysregulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1856440</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.">C5935613</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autoinflammation with episodic fever and immune dysregulation (AIFID) is an autosomal recessive disorder characterized by recurrent fever and autoinflammation affecting various organ systems. The onset of symptoms is in infancy or early childhood. Clinical features are highly variable and may include lymphadenopathy, inflammation of the joints, gastrointestinal inflammation, and parotitis. Laboratory studies show leukocytosis, often with neutrophilia, and inflammatory markers (C-reactive protein, 123260; erythrocyte sedimentation rate (ESR)), but immunoglobulins and other immune cells are essentially normal, and autoantibodies are not present. The features are consistent with immune dysregulation; some patients may have symptoms of mild immunodeficiency, such as chronic otitis media. Treatment with TNF (191160) inhibitors may result in significant clinical improvement (Oda et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1856440">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1857174"><div><strong>Immunodeficiency 121 with autoinflammation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1857174</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.">C5935616</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-121 with autoinflammation (IMD121) is a complex immunologic disorder characterized clinically by T-, B-, NK+/- severe combined immunodeficiency (SCID) associated with failure to thrive, erythrodermia, diarrhea, and alopecia. Symptom onset is in early infancy. Laboratory studies show lymphopenia with reduced or absent B cells, decreased T cells, skewed T-cell repertoire, and eosinophilia. Treatment with hematopoietic stem cell transplant (HSCT) is often complicated by severe inflammatory post-transplant complications (van der Made et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1857174">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune disease, multisystem, infantile-onset, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1856440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammation with episodic fever and immune dysregulation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841161" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammatory disease, systemic, with vasculitis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_898541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammatory syndrome, familial, Behcet-like 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1808082" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammatory syndrome, familial, X-linked, Behcet-like 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (27)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bare lymphocyte syndrome type 2, complementation group A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency due to LRBA deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous photosensitivity-lethal colitis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767570" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal recessive 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hemophagocytic lymphohistiocytosis 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462759" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863204" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperlipoproteinemia, type 1D</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1857174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 121 with autoinflammation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1787468" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 14b, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863632" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 37</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1681890" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 60</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1740270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 70</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1781281" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 76</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1781752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 82 with systemic inflammation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1802936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 97 with autoinflammation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442630" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inflammatory bowel disease 28</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyogenic arthritis-pyoderma gangrenosum-acne syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648422" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe combined immunodeficiency due to CARMIL2 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichohepatoenteric syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked lymphoproliferative disease due to XIAP deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked reticulate pigmentary disorder</a></div></span></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34358489">Extraintestinal Manifestations of Inflammatory Bowel Disease: Current Concepts, Treatment, and Implications for Disease Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogler G,
|
||
Singh A,
|
||
Kavanaugh A,
|
||
Rubin DT</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2021 Oct;161(4):1118-1132.
|
||
Epub 2021 Aug 3
|
||
doi: 10.1053/j.gastro.2021.07.042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34358489" target="_blank">34358489</a><a href="/pmc/articles/PMC8564770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31562236">British Society of Gastroenterology consensus guidelines on the management of inflammatory bowel disease in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lamb CA,
|
||
Kennedy NA,
|
||
Raine T,
|
||
Hendy PA,
|
||
Smith PJ,
|
||
Limdi JK,
|
||
Hayee B,
|
||
Lomer MCE,
|
||
Parkes GC,
|
||
Selinger C,
|
||
Barrett KJ,
|
||
Davies RJ,
|
||
Bennett C,
|
||
Gittens S,
|
||
Dunlop MG,
|
||
Faiz O,
|
||
Fraser A,
|
||
Garrick V,
|
||
Johnston PD,
|
||
Parkes M,
|
||
Sanderson J,
|
||
Terry H;
|
||
IBD guidelines eDelphi consensus group,
|
||
Gaya DR,
|
||
Iqbal TH,
|
||
Taylor SA,
|
||
Smith M,
|
||
Brookes M,
|
||
Hansen R,
|
||
Hawthorne AB</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2019 Dec;68(Suppl 3):s1-s106.
|
||
Epub 2019 Sep 27
|
||
doi: 10.1136/gutjnl-2019-318484.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31562236" target="_blank">31562236</a><a href="/pmc/articles/PMC6872448" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31406511">A review of the diagnosis, prevention, and treatment methods of inflammatory bowel disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seyedian SS,
|
||
Nokhostin F,
|
||
Malamir MD</span><br />
|
||
<span class="medgenPMjournal">J Med Life</span>
|
||
2019 Apr-Jun;12(2):113-122.
|
||
doi: 10.25122/jml-2018-0075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31406511" target="_blank">31406511</a><a href="/pmc/articles/PMC6685307" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22colitis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3740)</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/38677819">Clostridioides difficile Colitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pumiglia L,
|
||
Wilson L,
|
||
Rashidi L</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
2024 Jun;104(3):545-556.
|
||
Epub 2023 Dec 26
|
||
doi: 10.1016/j.suc.2023.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38677819" target="_blank">38677819</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35426646">Ulcerative Colitis: Rapid Evidence Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams SM,
|
||
Close ED,
|
||
Shreenath AP</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2022 Apr 1;105(4):406-411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35426646" target="_blank">35426646</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34876790">Colonoscopy-related colonic ischemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadalla S,
|
||
Lisotti A,
|
||
Fuccio L,
|
||
Fusaroli P</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2021 Nov 14;27(42):7299-7310.
|
||
doi: 10.3748/wjg.v27.i42.7299.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34876790" target="_blank">34876790</a><a href="/pmc/articles/PMC8611204" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33148393">Ulcerative Colitis-Diagnostic and Therapeutic Algorithms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kucharzik T,
|
||
Koletzko S,
|
||
Kannengiesser K,
|
||
Dignass A</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2020 Aug 17;117(33-34):564-574.
|
||
doi: 10.3238/arztebl.2020.0564.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33148393" target="_blank">33148393</a><a href="/pmc/articles/PMC8171548" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30044358">Management of Paediatric Ulcerative Colitis, Part 2: Acute Severe Colitis-An Evidence-based Consensus Guideline From the European Crohn's and Colitis Organization and the European Society of Paediatric Gastroenterology, Hepatology and Nutrition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner D,
|
||
Ruemmele FM,
|
||
Orlanski-Meyer E,
|
||
Griffiths AM,
|
||
de Carpi JM,
|
||
Bronsky J,
|
||
Veres G,
|
||
Aloi M,
|
||
Strisciuglio C,
|
||
Braegger CP,
|
||
Assa A,
|
||
Romano C,
|
||
Hussey S,
|
||
Stanton M,
|
||
Pakarinen M,
|
||
de Ridder L,
|
||
Katsanos KH,
|
||
Croft N,
|
||
Navas-López VM,
|
||
Wilson DC,
|
||
Lawrence S,
|
||
Russell RK</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2018 Aug;67(2):292-310.
|
||
doi: 10.1097/MPG.0000000000002036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30044358" target="_blank">30044358</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colitis%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 (25289)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38306113">What Is Ulcerative Colitis?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voelker R</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2024 Feb 27;331(8):716.
|
||
doi: 10.1001/jama.2023.23814.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38306113" target="_blank">38306113</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35426646">Ulcerative Colitis: Rapid Evidence Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams SM,
|
||
Close ED,
|
||
Shreenath AP</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2022 Apr 1;105(4):406-411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35426646" target="_blank">35426646</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34168401">Mucosal lesions of the upper gastrointestinal tract in patients with ulcerative colitis: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun Y,
|
||
Zhang Z,
|
||
Zheng CQ,
|
||
Sang LX</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2021 Jun 14;27(22):2963-2978.
|
||
doi: 10.3748/wjg.v27.i22.2963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34168401" target="_blank">34168401</a><a href="/pmc/articles/PMC8192286" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33762374">Ulcerative colitis: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Segal JP,
|
||
LeBlanc JF,
|
||
Hart AL</span><br />
|
||
<span class="medgenPMjournal">Clin Med (Lond)</span>
|
||
2021 Mar;21(2):135-139.
|
||
doi: 10.7861/clinmed.2021-0080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33762374" target="_blank">33762374</a><a href="/pmc/articles/PMC8002778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33148393">Ulcerative Colitis-Diagnostic and Therapeutic Algorithms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kucharzik T,
|
||
Koletzko S,
|
||
Kannengiesser K,
|
||
Dignass A</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2020 Aug 17;117(33-34):564-574.
|
||
doi: 10.3238/arztebl.2020.0564.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33148393" target="_blank">33148393</a><a href="/pmc/articles/PMC8171548" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colitis%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 (21521)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39182898">Comparative Efficacy of Biologics and Small Molecule in Ulcerative Colitis: A Systematic Review and Network Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shehab M,
|
||
Alrashed F,
|
||
Alsayegh A,
|
||
Aldallal U,
|
||
Ma C,
|
||
Narula N,
|
||
Jairath V,
|
||
Singh S,
|
||
Bessissow T</span><br />
|
||
<span class="medgenPMjournal">Clin Gastroenterol Hepatol</span>
|
||
2025 Feb;23(2):250-262.
|
||
Epub 2024 Sep 5
|
||
doi: 10.1016/j.cgh.2024.07.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39182898" target="_blank">39182898</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38834296">Acute severe ulcerative colitis trials: the past, the present and the future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Honap S,
|
||
Jairath V,
|
||
Sands BE,
|
||
Dulai PS,
|
||
Danese S,
|
||
Peyrin-Biroulet L</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2024 Sep 9;73(10):1763-1773.
|
||
doi: 10.1136/gutjnl-2024-332489.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38834296" target="_blank">38834296</a><a href="/pmc/articles/PMC11610420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35994200">Ozanimod: A Review in Ulcerative Colitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paik J</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2022 Aug;82(12):1303-1313.
|
||
Epub 2022 Aug 22
|
||
doi: 10.1007/s40265-022-01762-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35994200" target="_blank">35994200</a><a href="/pmc/articles/PMC9499884" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30934053">The Role of Early Biologic Therapy in Inflammatory Bowel Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berg DR,
|
||
Colombel JF,
|
||
Ungaro R</span><br />
|
||
<span class="medgenPMjournal">Inflamm Bowel Dis</span>
|
||
2019 Nov 14;25(12):1896-1905.
|
||
doi: 10.1093/ibd/izz059.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30934053" target="_blank">30934053</a><a href="/pmc/articles/PMC7185690" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29173524">Fecal Transplant in Inflammatory Bowel Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Browne AS,
|
||
Kelly CR</span><br />
|
||
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
|
||
2017 Dec;46(4):825-837.
|
||
Epub 2017 Oct 3
|
||
doi: 10.1016/j.gtc.2017.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29173524" target="_blank">29173524</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colitis%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 (23665)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36251359">Implications of the changing epidemiology of inflammatory bowel disease in a changing world.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agrawal M,
|
||
Jess T</span><br />
|
||
<span class="medgenPMjournal">United European Gastroenterol J</span>
|
||
2022 Dec;10(10):1113-1120.
|
||
Epub 2022 Oct 17
|
||
doi: 10.1002/ueg2.12317.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36251359" target="_blank">36251359</a><a href="/pmc/articles/PMC9752308" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35082139">Vitamin D and marine omega 3 fatty acid supplementation and incident autoimmune disease: VITAL randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn J,
|
||
Cook NR,
|
||
Alexander EK,
|
||
Friedman S,
|
||
Walter J,
|
||
Bubes V,
|
||
Kotler G,
|
||
Lee IM,
|
||
Manson JE,
|
||
Costenbader KH</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2022 Jan 26;376:e066452.
|
||
doi: 10.1136/bmj-2021-066452.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35082139" target="_blank">35082139</a><a href="/pmc/articles/PMC8791065" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33121686">Epidemiology and Pathogenesis of Ulcerative Colitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Du L,
|
||
Ha C</span><br />
|
||
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
|
||
2020 Dec;49(4):643-654.
|
||
Epub 2020 Sep 25
|
||
doi: 10.1016/j.gtc.2020.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33121686" target="_blank">33121686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25732745">Epidemiology and risk factors for IBD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ananthakrishnan AN</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Gastroenterol Hepatol</span>
|
||
2015 Apr;12(4):205-17.
|
||
Epub 2015 Mar 3
|
||
doi: 10.1038/nrgastro.2015.34.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25732745" target="_blank">25732745</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25071340">Epidemiology, demographic characteristics and prognostic predictors of ulcerative colitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Silva BC,
|
||
Lyra AC,
|
||
Rocha R,
|
||
Santana GO</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2014 Jul 28;20(28):9458-67.
|
||
doi: 10.3748/wjg.v20.i28.9458.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25071340" target="_blank">25071340</a><a href="/pmc/articles/PMC4110577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colitis%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 (13806)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38309631">Machine Learning-Based Prediction of Pediatric Ulcerative Colitis Treatment Response Using Diagnostic Histopathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu X,
|
||
Prasath S,
|
||
Siddiqui I,
|
||
Walters TD,
|
||
Denson LA;
|
||
PROTECT Consortium,
|
||
Dhaliwal J</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2024 May;166(5):921-924.e4.
|
||
Epub 2024 Feb 2
|
||
doi: 10.1053/j.gastro.2024.01.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38309631" target="_blank">38309631</a><a href="/pmc/articles/PMC11836768" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34145045">Calprotectin: from biomarker to biological function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jukic A,
|
||
Bakiri L,
|
||
Wagner EF,
|
||
Tilg H,
|
||
Adolph TE</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2021 Oct;70(10):1978-1988.
|
||
Epub 2021 Jun 18
|
||
doi: 10.1136/gutjnl-2021-324855.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34145045" target="_blank">34145045</a><a href="/pmc/articles/PMC8458070" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30366790">Histochemistry in the diagnosis of non-neoplastic gastrointestinal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fitzgibbons PL</span><br />
|
||
<span class="medgenPMjournal">Semin Diagn Pathol</span>
|
||
2018 Nov;35(6):370-380.
|
||
Epub 2018 Oct 16
|
||
doi: 10.1053/j.semdp.2018.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30366790" target="_blank">30366790</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26475633">Development and validation of a histological index for UC.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mosli MH,
|
||
Feagan BG,
|
||
Zou G,
|
||
Sandborn WJ,
|
||
D'Haens G,
|
||
Khanna R,
|
||
Shackelton LM,
|
||
Walker CW,
|
||
Nelson S,
|
||
Vandervoort MK,
|
||
Frisbie V,
|
||
Samaan MA,
|
||
Jairath V,
|
||
Driman DK,
|
||
Geboes K,
|
||
Valasek MA,
|
||
Pai RK,
|
||
Lauwers GY,
|
||
Riddell R,
|
||
Stitt LW,
|
||
Levesque BG</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2017 Jan;66(1):50-58.
|
||
Epub 2015 Oct 16
|
||
doi: 10.1136/gutjnl-2015-310393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26475633" target="_blank">26475633</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25071340">Epidemiology, demographic characteristics and prognostic predictors of ulcerative colitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Silva BC,
|
||
Lyra AC,
|
||
Rocha R,
|
||
Santana GO</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2014 Jul 28;20(28):9458-67.
|
||
doi: 10.3748/wjg.v20.i28.9458.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25071340" target="_blank">25071340</a><a href="/pmc/articles/PMC4110577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colitis%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 (16221)</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/37549104">Disease Clearance as a New Outcome in Ulcerative Colitis: a Systematic Review and Expert Consensus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Amico F,
|
||
Magro F,
|
||
Siegmund B,
|
||
Kobayashi T,
|
||
Kotze PG,
|
||
Solitano V,
|
||
Caron B,
|
||
Al Awadhi S,
|
||
Hart A,
|
||
Jairath V,
|
||
Dignass A,
|
||
Peyrin-Biroulet L,
|
||
Danese S</span><br />
|
||
<span class="medgenPMjournal">Inflamm Bowel Dis</span>
|
||
2024 Jun 3;30(6):1009-1017.
|
||
doi: 10.1093/ibd/izad159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37549104" target="_blank">37549104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34995526">Twenty-first Century Trends in the Global Epidemiology of Pediatric-Onset Inflammatory Bowel Disease: Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuenzig ME,
|
||
Fung SG,
|
||
Marderfeld L,
|
||
Mak JWY,
|
||
Kaplan GG,
|
||
Ng SC,
|
||
Wilson DC,
|
||
Cameron F,
|
||
Henderson P,
|
||
Kotze PG,
|
||
Bhatti J,
|
||
Fang V,
|
||
Gerber S,
|
||
Guay E,
|
||
Kotteduwa Jayawarden S,
|
||
Kadota L,
|
||
Maldonado D F,
|
||
Osei JA,
|
||
Sandarage R,
|
||
Stanton A,
|
||
Wan M;
|
||
InsightScope Pediatric IBD Epidemiology Group,
|
||
Benchimol EI</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2022 Apr;162(4):1147-1159.e4.
|
||
Epub 2022 Jan 5
|
||
doi: 10.1053/j.gastro.2021.12.282.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34995526" target="_blank">34995526</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34856198">Efficacy and safety of biologics and small molecule drugs for patients with moderate-to-severe ulcerative colitis: a systematic review and network meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lasa JS,
|
||
Olivera PA,
|
||
Danese S,
|
||
Peyrin-Biroulet L</span><br />
|
||
<span class="medgenPMjournal">Lancet Gastroenterol Hepatol</span>
|
||
2022 Feb;7(2):161-170.
|
||
Epub 2021 Nov 29
|
||
doi: 10.1016/S2468-1253(21)00377-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34856198" target="_blank">34856198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33359090">STRIDE-II: An Update on the Selecting Therapeutic Targets in Inflammatory Bowel Disease (STRIDE) Initiative of the International Organization for the Study of IBD (IOIBD): Determining Therapeutic Goals for Treat-to-Target strategies in IBD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner D,
|
||
Ricciuto A,
|
||
Lewis A,
|
||
D'Amico F,
|
||
Dhaliwal J,
|
||
Griffiths AM,
|
||
Bettenworth D,
|
||
Sandborn WJ,
|
||
Sands BE,
|
||
Reinisch W,
|
||
Schölmerich J,
|
||
Bemelman W,
|
||
Danese S,
|
||
Mary JY,
|
||
Rubin D,
|
||
Colombel JF,
|
||
Peyrin-Biroulet L,
|
||
Dotan I,
|
||
Abreu MT,
|
||
Dignass A;
|
||
International Organization for the Study of IBD</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2021 Apr;160(5):1570-1583.
|
||
Epub 2021 Feb 19
|
||
doi: 10.1053/j.gastro.2020.12.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33359090" target="_blank">33359090</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29050646">Worldwide incidence and prevalence of inflammatory bowel disease in the 21st century: a systematic review of population-based studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng SC,
|
||
Shi HY,
|
||
Hamidi N,
|
||
Underwood FE,
|
||
Tang W,
|
||
Benchimol EI,
|
||
Panaccione R,
|
||
Ghosh S,
|
||
Wu JCY,
|
||
Chan FKL,
|
||
Sung JJY,
|
||
Kaplan GG</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2017 Dec 23;390(10114):2769-2778.
|
||
Epub 2017 Oct 16
|
||
doi: 10.1016/S0140-6736(17)32448-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29050646" target="_blank">29050646</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colitis%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 (1458)</a></div></div>
|
||
</div>
|
||
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|
||
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|
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0009319%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C0009319%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (14)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0009319%5bDISCUI%5d" target="_blank">See all (14)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Colitis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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=(%22colitis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Colitis%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a href="/pubmed?term=Colitis%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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