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1114 lines
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<!--
|
||
UID=332357
|
||
ConceptID=C1837066
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Recurrent viral infections</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332357</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.">C1837066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Viral infections, recurrent</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Recurrent infectious disease caused by virus (452021000124103); Recurrent viral infection (452021000124103); Recurrent viral disease (452021000124103)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0004429">HP:0004429</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837066[DISCUI]&test_type=Clinical" ref="ncbi_uid=332357">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Recurrent viral infections</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867388" ref="tree=MeSH" title="MedGen record for Abnormality of the immune system">Abnormality of the immune system</a></span><ul><li><span class="TLline"><a href="/medgen/869194" ref="tree=MeSH" title="MedGen record for Abnormality of immune system physiology">Abnormality of immune system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1685049" ref="tree=MeSH" title="MedGen record for Unusual infection">Unusual infection</a></span><ul><li><span class="TLline"><a href="/medgen/65998" ref="tree=MeSH" title="MedGen record for Recurrent infections">Recurrent infections</a></span><ul><li><span class="matched_ds">Recurrent viral infections</span><ul><li><span class="TLline"><a href="/medgen/871203" ref="tree=MeSH" title="MedGen record for Recurrent enteroviral infections">Recurrent enteroviral infections</a></span><ul><li><span class="TLline"><a href="/medgen/812990" ref="tree=MeSH" title="MedGen record for Enteroviral dermatomyositis syndrome">Enteroviral dermatomyositis syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868979" ref="tree=MeSH" title="MedGen record for Recurrent viral skin infections">Recurrent viral skin infections</a></span></li><li><span class="TLline"><a href="/medgen/1739717" ref="tree=MeSH" title="MedGen record for Recurrent viral upper respiratory tract infections">Recurrent viral upper respiratory tract infections</a></span></li><li><span class="TLline"><a href="/medgen/381583" ref="tree=MeSH" title="MedGen record for Susceptibility to chickenpox">Susceptibility to chickenpox</a></span></li><li><span class="TLline"><a href="/medgen/377700" ref="tree=MeSH" title="MedGen record for Susceptibility to coronavirus 229e">Susceptibility to coronavirus 229e</a></span></li><li><span class="TLline"><a href="/medgen/322202" ref="tree=MeSH" title="MedGen record for Varicella, severe recurrent">Varicella, severe recurrent</a></span></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 mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_101814"><div><strong>T-lymphocyte deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101814</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0152094</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">T-cell immunodeficiency with thymic aplasia (TIDTA) is an autosomal recessive disorder that is often detected at birth through newborn SCID screening with the finding of decreased T-cell receptor excision circles (TRECs). Affected individuals have selective hypo- or aplasia of the thymus, which results in T-cell immunodeficiency due to impaired T-cell development and increased susceptibility to viral infections. The phenotype is similar to T-/B+/NK+ SCID. Some patients may die in childhood; thymus transplantation may be curative (summary by Du et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101814">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75653"><div><strong>Purine-nucleoside phosphorylase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75653</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.">C0268125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75653">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_224702"><div><strong>Progeroid short stature with pigmented nevi</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>224702</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.">C1261128</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mulvihill-Smith syndrome is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and mental retardation. Immunodeficiency may also be a feature. Adult manifestations include the development of tumors, a sleep disorder with severe insomnia, and cognitive decline (summary by Yagihashi et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/224702">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_323058"><div><strong>Susceptibility to respiratory infections associated with CD8alpha chain mutation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323058</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.">C1837065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-116 (IMD116) is an autosomal recessive immunologic disorder characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood. Laboratory studies show absence of CD8+ T cells, whereas other lymphocyte numbers and immunoglobulin levels are normal (Dumontet et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323058">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333371"><div><strong>Myelolymphatic insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333371</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.">C1839650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333371">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_326624"><div><strong>Immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326624</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.">C1839982</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326624">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_377894"><div><strong>Immunodeficiency due to CD25 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377894</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.">C1853392</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Immunodeficiency-41 is an autosomal recessive complex disorder of immune dysregulation. Affected individuals present in infancy with recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. Immunologic studies show a defect in T-cell regulation (summary by Goudy et al., 2013).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/377894">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_340962"><div><strong>Vici syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340962</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.">C1855772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of EPG5-related disorder represents a continuum. At the most severe end of the spectrum is classic Vici syndrome (defined as a neurodevelopmental disorder with multisystem involvement characterized by the combination of agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive); at the milder end of the spectrum are attenuated neurodevelopmental phenotypes with variable multisystem involvement. Median survival in classic Vici syndrome appears to be 24 months, with only 10% of children surviving longer than age five years; the most common causes of death are respiratory infections as a result of primary immunodeficiency and/or cardiac insufficiency resulting from progressive cardiac failure. No data are available on life span in individuals at the milder end of the spectrum.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/340962">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>
|
||
<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>
|
||
<div class="divPopper rprt" id="rdis_396154"><div><strong>Coxsackievirus b3 susceptibility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396154</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.">C1861511</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396154">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_354935"><div><strong>Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354935</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1863236</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects lymphocyte development, viability, and function. The ADA deficiency phenotypic spectrum includes typical early-onset severe combined immunodeficiency (ADA-SCID), diagnosed in infancy (about 80% of individuals), and less severe "delayed" or "late-onset" combined immunodeficiency (ADA-CID), diagnosed in older children and adults (15%-20% of individuals). Some healthy individuals who are deficient in red blood cell ADA (termed "partial ADA deficiency") have been discovered by screening populations or relatives of individuals with ADA-SCID. Newborn screening (NBS) for SCID uses extracts from Guthrie card dried blood spots to measure T-cell receptor excision circle (TREC) DNA by polymerase chain reaction (PCR). Screening specific for ADA deficiency can also be performed by detection of elevated levels of adenosine (Ado) and deoxyadenosine (dAdo) by tandem mass spectrometry (TMS). Both techniques can identify ADA-SCID before affected infants become symptomatic. Untreated ADA-SCID presents as life-threatening opportunistic illnesses in the first weeks to months of life with poor linear growth and weight gain secondary to persistent diarrhea, extensive dermatitis, and recurrent pneumonia. Skeletal abnormalities affecting ribs and vertebra, pulmonary alveolar proteinosis, hemolytic anemia, neurologic abnormalities, and transaminitis may also suggest untreated ADA-SCID. Characteristic immune abnormalities are lymphocytopenia (low numbers of T, B, and NK cells) combined with the absence of both humoral and cellular immune function. If immune function is not restored with enzyme replacement therapy (ERT), gene therapy, or hematopoietic stem cell transplantation (HSCT), children with ADA-SCID rarely survive beyond age one to two years. NBS for SCID does not identify individuals with the ADA-CID phenotype whose TREC numbers are above the threshold values of most screening laboratories. However, ADA-CID is identified by TMS NBS since the ADA substrates Ado and dAdo are increased. As TMS NBS for Ado/dAdo is not yet widely performed, individuals with ADA-CID are more often clinically diagnosed between ages one and ten years ("delayed" onset), or less often in the second to fourth decades ("late"/"adult" onset). Because the immunologic abnormalities are less pronounced than those of ADA-SCID, infections in ADA-CID may not be life-threatening and include recurrent otitis media, sinusitis, upper respiratory infections, and human papilloma viral infections. Untreated individuals with ADA-CID can develop over time chronic pulmonary disease, autoimmunity, atopic disease with elevated immunoglobulin E, and malignancy.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/354935">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_351256"><div><strong>Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351256</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.">C1864947</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Immunodeficiency-54 is an autosomal recessive primary immunodeficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer (NK) cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. Laboratory studies of patient cells showed a DNA repair defect (summary by Gineau et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351256">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_409751"><div><strong>Immunodeficiency 35</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409751</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.">C1969086</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Immunodeficiency-35 (IMD35) is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to localized or disseminated mycobacterial infection after BCG vaccination. Some patients may have increased susceptibility to infection with other intracellular organisms and/or viral infections. Fungal infections are not observed. Laboratory studies show normal levels of immune cells but defective signaling in specific immunologic pathways (summary by Kreins et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/409751">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_398130"><div><strong>Histiocytic medullary reticulosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398130</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2700553</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Omenn syndrome is an autosomal recessive disorder characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. B cells are mostly absent, T-cell counts are normal to elevated, and T cells are frequently activated and express a restricted T-cell receptor (TCR) repertoire (summary by Ege et al., 2005). Another distinct form of familial histiocytic reticulocytosis (267700) is caused by mutation in the perforin-1 gene (PRF1; 170280) on chromosome 10q22.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/398130">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_414015"><div><strong>Candidiasis, familial, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414015</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.">C2751429</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 mucocutaneous candidiasis (CMC) includes a group of rare disorders with altered immune responses, selective against Candida, characterized by persistent and/or recurrent infections of the skin, nails, and mucous membranes, caused by organisms of the genus Candida, mainly Candida albicans (Zuccarello et al., 2002). Isolated familial chronic mucocutaneous candidiasis is distinct from candidiasis with endocrinopathy (240300). In myeloperoxidase deficiency (254600), susceptibility to candidiasis may be increased. Genetic Heterogeneity of Candidiasis Familial candidiasis-1 (CANDF1) maps to chromosome 2p. CANDF2 (212050) is caused by mutation in the CARD9 gene (607212) on chromosome 9q34.3. CANDF3 (607644), a form restricted to nails of the hands and feet, maps to chromosome 11. CANDF4 (613108) is caused by mutation in the CLEC7A gene (606264) on chromosome 12p13. CANDF6 (613956) is caused by mutation in the IL17F gene (606496) on chromosome 6p12. CANDF7 (614162) is caused by mutation in the STAT1 gene (600555) on chromosome 2q32. CANDF8 (615527) is caused by mutation in the TRAF3IP2 gene (607043) on chromosome 6q21. CANDF9 (616445) is caused by mutation in the IL17RC gene (610925) on chromosome 3p25. A form of familial candidiasis, previously thought to be isolated and designated CANDF5, has been found to be part of a primary immune deficiency (IMD51; 613953) that includes Staphylococcal skin infections and increased susceptibility to chronic bacterial respiratory infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414015">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_462438"><div><strong>Immunodeficiency 31B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462438</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.">C3151088</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Immunodeficiency-31B (IMD31B) results from autosomal recessive (AR) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA (147660)/IFNB (147640) (type I interferon) and IFNG (147570) (type III interferon). AR STAT1 deficiency affects both the IFNA/IFNB and the IFNG pathways, resulting in susceptibility to mycobacteria, Salmonella, and viruses, with a severe disease course and often fatal outcome (review by Al-Muhsen and Casanova, 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462438">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_477076"><div><strong>X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477076</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.">C3275445</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">XMEN is an X-linked recessive immunodeficiency characterized by CD4 (186940) lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation (Li et al., 2011). Affected individuals have chronic Epstein-Barr virus (EBV) infection and are susceptible to the development of EBV-associated B-cell lymphoproliferative disorders. Magnesium supplementation may be therapeutic (summary by Li et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477076">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481660"><div><strong>Monocytopenia with susceptibility to infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481660</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.">C3280030</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anemia. Bone marrow transplantation is the only cure. Some patients may have an increased risk of miscarriage. Both autosomal dominant transmission and sporadic cases occur. Less common manifestations of GATA2 deficiency include lymphedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome' (614038) (summary by Bigley et al. (2011), Hsu et al. (2011), and Spinner et al. (2014)).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481660">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_766857"><div><strong>Combined immunodeficiency due to STK4 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766857</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.">C3553943</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-110 (IMD110) is an autosomal recessive primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, and autoimmune manifestations. Patients are at risk for developing lymphoproliferative disorders or lymphoma, particularly associated with EBV. Some patients may show cardiac malformations, including atrial septal defect (Abdollahpour et al., 2012; Nehme et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766857">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815913"><div><strong>Combined immunodeficiency due to MALT1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815913</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.">C3809583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815913">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_862387"><div><strong>Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862387</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.">C4013950</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Immunodeficiency-31A (IMD31A) results from autosomal dominant (AD) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA (147660)/IFNB (147640) (type I interferon) and IFNG (147570) (type III interferon). AD STAT1 deficiency selectively affects the IFNG pathway, but not the IFNA/IFNB pathway, and confers a predisposition to mycobacterial infections. Pathogens reported in IMD31A patients include bacillus Calmette-Guerin (BCG) and Mycobacterium avium complex, as well as Mycobacterium tuberculosis. IMD31A has low penetrance and a mild clinical phenotype with good prognosis for recovery (review by Al-Muhsen and Casanova, 2008). Two patients with heterozygous STAT1 mutations have been reported with increased susceptibility to adult-onset herpes simplex encephalitis (HSE) without a history of other significant infections (Mork et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862387">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_863054"><div><strong>Severe combined immunodeficiency due to CTPS1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863054</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.">C4014617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">IMD24 is an autosomal recessive immunodeficiency characterized by the impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpesviruses, including Epstein-Barr virus (EBV) and varicella zoster virus (VZV); they also suffer from recurrent encapsulated bacterial infections, a spectrum typical of a combined deficiency of adaptive immunity (CID) (summary by Martin et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863054">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_863730"><div><strong>Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863730</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.">C4015293</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">IMD38 predisposes individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines (Bogunovic et al., 2012). Patients do not experience severe disease in response to viral infection. Affected individuals have intracranial calcification (Zhang et al., 2015).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/863730">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_905078"><div><strong>Pancytopenia due to IKZF1 mutations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905078</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.">C4225173</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-13 (CVID13) is an autosomal dominant primary immunodeficiency disorder characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells. The age at onset of clinical features can range from infancy to adulthood, and some patients may have a mild disorder or even remain clinically asymptomatic (summary by Kuehn et al., 2016). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905078">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1386863"><div><strong>Bleeding disorder, platelet-type, 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1386863</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.">C4479515</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">BDPLT21 is a hematologic disorder characterized by increased risk of bleeding resulting from a functional platelet defect. Platelets have decreased or even absent dense bodies and abnormally enlarged and fused alpha-granules, and they show defective secretion and aggregation responses to agonists. Platelets are usually enlarged, and some patients may have mild to moderate thrombocytopenia (summary by Saultier et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1386863">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1648410"><div><strong>Combined immunodeficiency due to DOCK8 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648410</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.">C4722305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hyper-IgE syndrome-2 with recurrent infections (HIES2) is an autosomal recessive immunologic disorder characterized by recurrent staphylococcal infections of the skin and respiratory tract, eczema, elevated serum immunoglobulin E, and hypereosinophilia. It is distinguished from autosomal dominant HIES1 (147060) by the lack of connective tissue and skeletal involvement (Renner et al., 2004). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see 147060. See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648410">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1648482"><div><strong>Proteasome-associated autoinflammatory syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648482</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.">C4747989</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proteasome-associated autoinflammatory syndrome-2 (PRAAS2) is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648482">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684865"><div><strong>Immunodeficiency 65, susceptibility to viral infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684865</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.">C5231441</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Immunodeficiency-65 (IMD65) is an autosomal recessive immunologic disorder characterized by onset of recurrent and severe viral infections from early infancy. Affected individuals have impaired ability to fight viral infections, resulting in clinically significant disease, including pneumonia, bronchiectasis, and septic shock. Laboratory studies may show lymphopenia or hypogammaglobulinemia, particularly during infection; more detailed studies show an impaired cellular type I interferon response. Treatment with intravenous immunoglobulin (IVIg) is beneficial. Important features of this disorder include the rapid development of septic shock, as well as poor outcomes after vaccination with live attenuated vaccines; such vaccines should never be administered to patients with known impaired interferon responses (summary by Hernandez et al., 2018 and Bravo Garcia-Morato et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684865">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1716098"><div><strong>Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1716098</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.">C5394091</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (NEDHRIT) is a severe autosomal recessive disorder characterized by neonatal respiratory distress, poor feeding, and impaired global development. Affected individuals are unable to walk or speak and have poor or absent eye contact. Some patients may develop seizures (summary by Wagner et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1716098">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1750270"><div><strong>Autoinflammation, immune dysregulation, and eosinophilia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750270</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.">C5436572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) is an autosomal dominant disorder characterized by onset of severe atopic dermatitis and chronic gastrointestinal inflammation, mainly involving the colon, in infancy or early childhood. Affected individuals tend to have asthma and food or environmental allergies, as well as poor overall growth with short stature. Severe liver involvement has also been reported (Takeichi et al., 2021). Laboratory studies show increased eosinophils with normal or increased IgE levels, as well as evidence of a hyperactive immune state, including increased erythrocyte sedimentation rate and C-reactive protein. Treatment with JAK inhibitors, such as ruxolitinib and tofacitinib, results in dramatic clinical improvement (summary by Gruber et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1750270">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794280"><div><strong>Immunodeficiency 87 and autoimmunity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794280</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.">C5562070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-87 and autoimmunity (IMD87) is an autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation (summary by Serwas et al., 2019 and Fournier et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794280">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841269"><div><strong>Immunodeficiency 112</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841269</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.">C5830633</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-112 (IMD112) is an autosomal recessive primary immunologic disorder with variable manifestations beginning in early childhood. Some patients have recurrent bacterial, viral, and fungal infections, including disseminated bacillus Calmette-Guerin (BCG)-related infections, whereas at least 1 patient only presented with BCG-related infections. Immunologic workup shows variable abnormalities affecting lymphoid immunity, including hypogammaglobulinemia, lymphopenia or paradoxical lymphocytosis, and defects in B, T, and NK cell differentiation and function mainly due to disruption of the noncanonical NFKB (see 164011) signaling pathway (Willmann et al., 2014; Schlechter et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841269">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1851769"><div><strong>Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1851769</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.">C5848786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hyper-IgE syndrome-6 with recurrent infections (HIES6) is an autosomal dominant immunologic disorder characterized by early-childhood onset of severe refractory atopic dermatitis, IgE-mediated food and drug allergies, asthma, and eosinophilic esophagitis. Laboratory studies show increased serum IgE levels and eosinophilia. Affected individuals are susceptible to life-threatening anaphylaxis. Additional features may include allergic rhinitis, recurrent secondary infections (bacterial, viral, fungal), and short stature. Rare patients show intracerebral vascular abnormalities, including the Circle of Willis, increased risk of ruptured aneurysm, and B-cell lymphoma. The disorder results from immune dysregulation with inappropriate activation of inflammatory signaling pathways associated with a Th2 phenotype. Treatment with an IL4 (147780)/IL13 (147683) inhibitor (dupilumab) or JAK inhibitor results in clinical improvement. Sharma et al. (2023) classified this disease as a 'primary atopic disorder' (PAD). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see HIES1 (147060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1851769">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1851770"><div><strong>Immunodeficiency 113 with autoimmunity and autoinflammation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1851770</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.">C5882711</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-113 with autoimmunity and autoinflammation (IMD113) is an autosomal recessive complex immunologic disorder with onset of symptoms in infancy. Affected individuals have recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants. More variable systemic features may include celiac disease or enteropathy, ileus, nephropathy, eczema, and dermatomyositis. Additional features include facial dysmorphism, scoliosis, and poor wound healing. One patient with neurodevelopmental abnormalities has been reported. The disorder results from dysregulation of the actin cytoskeleton that affects certain cell lineages (Nunes-Santos et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1851770">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847791"><div><strong>Immunodeficiency 115 with autoinflammation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847791</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.">C5882724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Immunodeficiency-115 with autoinflammation (IMD115) is an autosomal recessive disorder characterized by the onset of symptoms of immune dysregulation in early infancy. Affected individuals have immunodeficiency with recurrent bacterial, viral, and fungal infections, as well as autoinflammatory features, including arthritis and dermatitis. Some patients may have more systemic involvement, such as myopathy, gastrointestinal abnormalities, and anemia. Laboratory studies show variable B-cell and T-cell defects, sometimes with defective antibody responses and hypogammaglobulinemia (Boisson et al., 2015; Oda et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847791">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1862135"><div><strong>MHC class I deficiency 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1862135</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.">C5935617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MHC class I deficiency-2 (MHC1D2) is an autosomal recessive immunologic disorder characterized by the onset of chronic bacterial sinobronchial infections in the first or second decades of life. Nasal polyps are common, and chronic necrotizing granulomatous lesions affecting the nasal cavity, upper respiratory tract, or skin, which can be severe, may develop later. The disorder is progressive and patients may develop bronchiectasis and respiratory failure. Patient cells have decreased or absent expression of MHC type I (HLA class I) antigens on the cell surface (summary by de La Salle et al., 1994; Moins-Teisserenc et al., 1999). For a discussion of genetic heterogeneity of MHC class I deficiency, see MHC1D1 (604571).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1862135">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1860800"><div><strong>Immunodeficiency 122</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1860800</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5935632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-122 (IMD122) is an autosomal recessive inborn error of immunity characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin. Laboratory studies show severely decreased CD3+ T cells particularly affecting naive T cells, impaired early TCR recombination with a restricted TCR repertoire, normal or low-normal B cells, and decreased or increased NK cells. Affected individuals have poor overall growth, global developmental delay with poor motor skills, impaired intellectual development, and poor or absent speech acquisition. More variable findings may include diffuse skin rash, erythroderma, sensorineural hearing loss, lymphadenopathy, dysmorphic facial features, and tooth abnormalities. Death in early childhood may occur (Mehawej et al., 2023; Riestra et al., 2024).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1860800">Condition Record</a></div></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammation, immune dysregulation, and eosinophilia</a></div>
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<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>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1386863" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bleeding disorder, platelet-type, 21</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Candidiasis, familial, 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648410" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency due to DOCK8 deficiency</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (37)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815913" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency due to MALT1 deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766857" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency due to STK4 deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396154" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coxsackievirus b3 susceptibility</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_398130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Histiocytic medullary reticulosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1851769" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841269" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 112</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1851770" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 113 with autoimmunity and autoinflammation</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 115 with autoinflammation</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1860800" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 122</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462438" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 31B</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409751" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 35</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684865" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 65, susceptibility to viral infections</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794280" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 87 and autoimmunity</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_377894" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency due to CD25 deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1862135" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MHC class I deficiency 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481660" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Monocytopenia with susceptibility to infections</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myelolymphatic insufficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1716098" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancytopenia due to IKZF1 mutations</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_351256" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_224702" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progeroid short stature with pigmented nevi</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648482" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteasome-associated autoinflammatory syndrome 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Purine-nucleoside phosphorylase deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863054" 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 CTPS1 deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_323058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Susceptibility to respiratory infections associated with CD8alpha chain mutation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_101814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">T-lymphocyte deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vici syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477076" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27761936">Epigenetic Treatment of Persistent Viral Infections.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moos WH,
|
||
Pinkert CA,
|
||
Irwin MH,
|
||
Faller DV,
|
||
Kodukula K,
|
||
Glavas IP,
|
||
Steliou K</span><br />
|
||
<span class="medgenPMjournal">Drug Dev Res</span>
|
||
2017 Feb;78(1):24-36.
|
||
Epub 2016 Oct 20
|
||
doi: 10.1002/ddr.21366.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27761936" target="_blank">27761936</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24610337">Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lingman Framme J,
|
||
Borte S,
|
||
von Döbeln U,
|
||
Hammarström L,
|
||
Oskarsdóttir S</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2014 May;34(4):514-9.
|
||
Epub 2014 Mar 9
|
||
doi: 10.1007/s10875-014-0002-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24610337" target="_blank">24610337</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/380414">The syndrome of asthma, recurrent viral infections and T-cell immunodeficiency: investigations and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan A</span><br />
|
||
<span class="medgenPMjournal">Ann Allergy</span>
|
||
1979 Aug;43(2):69-72.
|
||
<span class="bold">PMID: </span><a href="/pubmed/380414" target="_blank">380414</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22recurrent%20viral%20infections%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 (3)</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/39190903">Effective and safe use of sirolimus in hyperinsulinemic hypoglycaemia refractory to medical and surgical therapy: a case series and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burnside MJ,
|
||
Benitez-Aguirre P,
|
||
Romans R,
|
||
Gehrmann F,
|
||
Velayutham V,
|
||
Alexander A,
|
||
Choong CS,
|
||
Abraham MB</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2024 Oct 28;37(10):900-911.
|
||
Epub 2024 Aug 23
|
||
doi: 10.1515/jpem-2024-0348.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39190903" target="_blank">39190903</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39056528">Approach to the patient with Childhood Interstitial and Diffuse Lung Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fiorino EK,
|
||
Fishman MP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2024 Sep;59(9):2267-2275.
|
||
Epub 2024 Jul 26
|
||
doi: 10.1002/ppul.27162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39056528" target="_blank">39056528</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38011856">Role of epithelial barrier function in inducing type 2 immunity following early-life viral infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tian K,
|
||
Dangarh P,
|
||
Zhang H,
|
||
Hines CL,
|
||
Bush A,
|
||
Pybus HJ,
|
||
Harker JA,
|
||
Lloyd CM,
|
||
Tanaka RJ,
|
||
Saglani S</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Allergy</span>
|
||
2024 Feb;54(2):109-119.
|
||
Epub 2023 Nov 27
|
||
doi: 10.1111/cea.14425.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38011856" target="_blank">38011856</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36771193">Microbiome and Asthma: Microbial Dysbiosis and the Origins, Phenotypes, Persistence, and Severity of Asthma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valverde-Molina J,
|
||
García-Marcos L</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2023 Jan 17;15(3)
|
||
doi: 10.3390/nu15030486.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36771193" target="_blank">36771193</a><a href="/pmc/articles/PMC9921812" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31379882">Does Natural Killer Cell Deficiency (NKD) Increase the Risk of Cancer? NKD May Increase the Risk of Some Virus Induced Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moon WY,
|
||
Powis SJ</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2019;10:1703.
|
||
Epub 2019 Jul 19
|
||
doi: 10.3389/fimmu.2019.01703.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31379882" target="_blank">31379882</a><a href="/pmc/articles/PMC6658984" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Recurrent%20viral%20infections%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 (15)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39312287">A single center experience on PI3K/AKT/MTOR signaling defects: Towards pathogenicity assessment for four novel defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bildik HN,
|
||
Esenboga S,
|
||
Halaclı SO,
|
||
Karaatmaca B,
|
||
Aytekin ES,
|
||
Nabiyeva N,
|
||
Akarsu A,
|
||
Ocak M,
|
||
Erman B,
|
||
Tan C,
|
||
Arikoglu T,
|
||
Yaz I,
|
||
Cicek B,
|
||
Tezcan I,
|
||
Cagdas D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Allergy Immunol</span>
|
||
2024 Sep;35(9):e14245.
|
||
doi: 10.1111/pai.14245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39312287" target="_blank">39312287</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39056528">Approach to the patient with Childhood Interstitial and Diffuse Lung Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fiorino EK,
|
||
Fishman MP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2024 Sep;59(9):2267-2275.
|
||
Epub 2024 Jul 26
|
||
doi: 10.1002/ppul.27162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39056528" target="_blank">39056528</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26476480">Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yee CS,
|
||
Massaad MJ,
|
||
Bainter W,
|
||
Ohsumi TK,
|
||
Föger N,
|
||
Chan AC,
|
||
Akarsu NA,
|
||
Aytekin C,
|
||
Ayvaz DÇ,
|
||
Tezcan I,
|
||
Sanal Ö,
|
||
Geha RS,
|
||
Chou J</span><br />
|
||
<span class="medgenPMjournal">J Allergy Clin Immunol</span>
|
||
2016 Mar;137(3):879-88.e2.
|
||
Epub 2015 Oct 21
|
||
doi: 10.1016/j.jaci.2015.08.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26476480" target="_blank">26476480</a><a href="/pmc/articles/PMC4783242" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16677233">Allergic rhinitis and its impact on otorhinolaryngology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hellings PW,
|
||
Fokkens WJ</span><br />
|
||
<span class="medgenPMjournal">Allergy</span>
|
||
2006 Jun;61(6):656-64.
|
||
doi: 10.1111/j.1398-9995.2006.01109.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16677233" target="_blank">16677233</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/380414">The syndrome of asthma, recurrent viral infections and T-cell immunodeficiency: investigations and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan A</span><br />
|
||
<span class="medgenPMjournal">Ann Allergy</span>
|
||
1979 Aug;43(2):69-72.
|
||
<span class="bold">PMID: </span><a href="/pubmed/380414" target="_blank">380414</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Recurrent%20viral%20infections%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 (21)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39190903">Effective and safe use of sirolimus in hyperinsulinemic hypoglycaemia refractory to medical and surgical therapy: a case series and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burnside MJ,
|
||
Benitez-Aguirre P,
|
||
Romans R,
|
||
Gehrmann F,
|
||
Velayutham V,
|
||
Alexander A,
|
||
Choong CS,
|
||
Abraham MB</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2024 Oct 28;37(10):900-911.
|
||
Epub 2024 Aug 23
|
||
doi: 10.1515/jpem-2024-0348.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39190903" target="_blank">39190903</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36159847">Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drago E,
|
||
Garbarino F,
|
||
Signa S,
|
||
Grossi A,
|
||
Schena F,
|
||
Penco F,
|
||
Santori E,
|
||
Candotti F,
|
||
Boztug K,
|
||
Volpi S,
|
||
Gattorno M,
|
||
Caorsi R</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:937108.
|
||
Epub 2022 Sep 9
|
||
doi: 10.3389/fimmu.2022.937108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36159847" target="_blank">36159847</a><a href="/pmc/articles/PMC9503826" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32733480">Viral Evasion of the Complement System and Its Importance for Vaccines and Therapeutics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mellors J,
|
||
Tipton T,
|
||
Longet S,
|
||
Carroll M</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2020;11:1450.
|
||
Epub 2020 Jul 9
|
||
doi: 10.3389/fimmu.2020.01450.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32733480" target="_blank">32733480</a><a href="/pmc/articles/PMC7363932" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27761936">Epigenetic Treatment of Persistent Viral Infections.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moos WH,
|
||
Pinkert CA,
|
||
Irwin MH,
|
||
Faller DV,
|
||
Kodukula K,
|
||
Glavas IP,
|
||
Steliou K</span><br />
|
||
<span class="medgenPMjournal">Drug Dev Res</span>
|
||
2017 Feb;78(1):24-36.
|
||
Epub 2016 Oct 20
|
||
doi: 10.1002/ddr.21366.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27761936" target="_blank">27761936</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24862744">Recurrent wheeze and cough in young children: is it asthma?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng MC,
|
||
How CH</span><br />
|
||
<span class="medgenPMjournal">Singapore Med J</span>
|
||
2014 May;55(5):236-41.
|
||
doi: 10.11622/smedj.2014064.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24862744" target="_blank">24862744</a><a href="/pmc/articles/PMC4291977" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Recurrent%20viral%20infections%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 (11)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39190903">Effective and safe use of sirolimus in hyperinsulinemic hypoglycaemia refractory to medical and surgical therapy: a case series and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burnside MJ,
|
||
Benitez-Aguirre P,
|
||
Romans R,
|
||
Gehrmann F,
|
||
Velayutham V,
|
||
Alexander A,
|
||
Choong CS,
|
||
Abraham MB</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2024 Oct 28;37(10):900-911.
|
||
Epub 2024 Aug 23
|
||
doi: 10.1515/jpem-2024-0348.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39190903" target="_blank">39190903</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37138249">Cyclic neutropenia and concomitant IgA nephropathy: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapogiannis C,
|
||
Zaggogianni T,
|
||
Stergiou N,
|
||
Kakleas K,
|
||
Kapogiannis A,
|
||
Gakiopoulou H,
|
||
Kanaka-Gantenbein C</span><br />
|
||
<span class="medgenPMjournal">BMC Nephrol</span>
|
||
2023 May 3;24(1):124.
|
||
doi: 10.1186/s12882-023-03179-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37138249" target="_blank">37138249</a><a href="/pmc/articles/PMC10157981" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31619476">Acute wheeze-specific gene module shows correlation with vitamin D and asthma medication.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katayama S,
|
||
Stenberg Hammar K,
|
||
Krjutškov K,
|
||
Einarsdottir E,
|
||
Hedlin G,
|
||
Kere J,
|
||
Söderhäll C</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2020 Jan;55(1)
|
||
Epub 2020 Jan 23
|
||
doi: 10.1183/13993003.01330-2019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31619476" target="_blank">31619476</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16901839">Dynamics of recurrent viral infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yao W,
|
||
Hertel L,
|
||
Wahl LM</span><br />
|
||
<span class="medgenPMjournal">Proc Biol Sci</span>
|
||
2006 Sep 7;273(1598):2193-9.
|
||
doi: 10.1098/rspb.2006.3563.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16901839" target="_blank">16901839</a><a href="/pmc/articles/PMC1635529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12357367">Features of large granular lymphocytes (LGL) expansion following allogeneic stem cell transplantation: a long-term analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohty M,
|
||
Faucher C,
|
||
Vey N,
|
||
Chabannon C,
|
||
Sainty D,
|
||
Arnoulet C,
|
||
Gaugler B,
|
||
Gastaut JA,
|
||
Maraninchi D,
|
||
Olive D,
|
||
Blaise D</span><br />
|
||
<span class="medgenPMjournal">Leukemia</span>
|
||
2002 Oct;16(10):2129-33.
|
||
doi: 10.1038/sj.leu.2402645.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12357367" target="_blank">12357367</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Recurrent%20viral%20infections%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38366142">Factors Associated With Prolonged Respiratory Virus Detection From Polymerase Chain Reaction of Nasal Specimens Collected Longitudinally in Healthy Children in a US Birth Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teoh Z,
|
||
Conrey S,
|
||
McNeal M,
|
||
Burrell A,
|
||
Burke RM,
|
||
Mattison CP,
|
||
McMorrow M,
|
||
Thornburg N,
|
||
Payne DC,
|
||
Morrow AL,
|
||
Staat MA</span><br />
|
||
<span class="medgenPMjournal">J Pediatric Infect Dis Soc</span>
|
||
2024 Mar 19;13(3):189-195.
|
||
doi: 10.1093/jpids/piae009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38366142" target="_blank">38366142</a><a href="/pmc/articles/PMC11520743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31619476">Acute wheeze-specific gene module shows correlation with vitamin D and asthma medication.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katayama S,
|
||
Stenberg Hammar K,
|
||
Krjutškov K,
|
||
Einarsdottir E,
|
||
Hedlin G,
|
||
Kere J,
|
||
Söderhäll C</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2020 Jan;55(1)
|
||
Epub 2020 Jan 23
|
||
doi: 10.1183/13993003.01330-2019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31619476" target="_blank">31619476</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31379882">Does Natural Killer Cell Deficiency (NKD) Increase the Risk of Cancer? NKD May Increase the Risk of Some Virus Induced Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moon WY,
|
||
Powis SJ</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2019;10:1703.
|
||
Epub 2019 Jul 19
|
||
doi: 10.3389/fimmu.2019.01703.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31379882" target="_blank">31379882</a><a href="/pmc/articles/PMC6658984" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24068616">The emerging role of autoimmunity in myalgic encephalomyelitis/chronic fatigue syndrome (ME/cfs).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morris G,
|
||
Berk M,
|
||
Galecki P,
|
||
Maes M</span><br />
|
||
<span class="medgenPMjournal">Mol Neurobiol</span>
|
||
2014 Apr;49(2):741-56.
|
||
Epub 2013 Sep 26
|
||
doi: 10.1007/s12035-013-8553-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24068616" target="_blank">24068616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12357367">Features of large granular lymphocytes (LGL) expansion following allogeneic stem cell transplantation: a long-term analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohty M,
|
||
Faucher C,
|
||
Vey N,
|
||
Chabannon C,
|
||
Sainty D,
|
||
Arnoulet C,
|
||
Gaugler B,
|
||
Gastaut JA,
|
||
Maraninchi D,
|
||
Olive D,
|
||
Blaise D</span><br />
|
||
<span class="medgenPMjournal">Leukemia</span>
|
||
2002 Oct;16(10):2129-33.
|
||
doi: 10.1038/sj.leu.2402645.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12357367" target="_blank">12357367</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Recurrent%20viral%20infections%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 (11)</a></div></div>
|
||
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|
||
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|
||
<div id="messagearea_bottom">
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|
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|
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<div class=" bottom">
|
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|
||
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1837066%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C1837066%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1837066%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Recurrent%20viral%20infections" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(%22recurrent%20viral%20infections%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(%22Recurrent%20viral%20infections%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/clinical?term=Recurrent%20viral%20infections" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Recurrent%20viral%20infections%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1837066[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1837066[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d2dd462f30673f7b44383e">Recurrent viral infections</a>
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<div class="ralinkpop offscreen_noflow">Recurrent viral infections<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d2dd4484f3725e59942b58">Aplasia of the thymus</a>
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<div class="tertiary">MedGen</div>
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