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<meta name="keywords" content="C0149516, chronic infection of sinus, chronic rhinosinusitis, chronic sinus disease, chronic sinusitis, disease or syndrome, sinusitis, chronic, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A chronic form of sinusitis." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Chronic sinusitis (Concept Id: C0149516)
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<!--
UID=101751
ConceptID=C0149516
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Chronic sinusitis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101751</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0149516</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Chronic rhinosinusitis; Sinusitis, chronic</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Chronic infection of sinus (40055000); Chronic rhinosinusitis (897657000); Chronic sinusitis (40055000)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0011109">HP:0011109</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0006031" target="_blank">MONDO:0006031</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">A chronic form of sinusitis. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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="TLline">Chronic sinusitis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/19750" ref="tree=MeSH" title="MedGen record for Disease, Respiratory Tract">Disease, Respiratory Tract</a></span><ul><li><span class="TLline"><a href="/medgen/10385" ref="tree=MeSH" title="MedGen record for Nasal disorder">Nasal disorder</a></span><ul><li><span class="TLline"><a href="/medgen/14608" ref="tree=MeSH" title="MedGen record for Disorder of nasal sinus">Disorder of nasal sinus</a></span><ul><li><span class="TLline"><a href="/medgen/20772" ref="tree=MeSH" title="MedGen record for Sinusitis">Sinusitis</a></span><ul><li><span class="matched_ds">Chronic sinusitis</span><ul><li><span class="TLline"><a href="/medgen/3454" ref="tree=MeSH" title="MedGen record for Chronic ethmoidal sinusitis">Chronic ethmoidal sinusitis</a></span></li><li><span class="TLline"><a href="/medgen/3455" ref="tree=MeSH" title="MedGen record for Chronic frontal sinusitis">Chronic frontal sinusitis</a></span></li><li><span class="TLline"><a href="/medgen/966" ref="tree=MeSH" title="MedGen record for Chronic maxillary sinusitis">Chronic maxillary sinusitis</a></span></li><li><span class="TLline"><a href="/medgen/3087" ref="tree=MeSH" title="MedGen record for Chronic sphenoidal sinusitis">Chronic sphenoidal sinusitis</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<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_41393"><div><strong>Cystic fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41393</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)&#10;Click for more information.">C0010674</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41393">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_39125"><div><strong>Polyglandular autoimmune syndrome, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39125</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)&#10;Click for more information.">C0085859</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autoimmune polyglandular syndrome type I (APS1) is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis (Neufeld et al., 1981). However, variable APS1 phenotypes have been observed, even among sibs. In addition, some patients may exhibit apparent isolated hypoparathyroidism, an early manifestation of APS1 with peak incidence at around age 5 years; over long-term follow-up, the development of additional features of APS1 may be observed (Cranston et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39125">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_339855"><div><strong>DNA ligase IV deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339855</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)&#10;Click for more information.">C1847827</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">LIG4 syndrome is an autosomal recessive severe combined immunodeficiency with features of radiosensitivity, chromosomal instability, pancytopenia, and developmental and growth delay. Leukemia and dysmorphic facial features have been reported in some patients (summary by van der Burg et al., 2006).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/339855">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_383722"><div><strong>Keutel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383722</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)&#10;Click for more information.">C1855607</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Keutel syndrome (KTLS) is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/383722">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_346868"><div><strong>MHC class I deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346868</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)&#10;Click for more information.">C1858266</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.\n\nMany people with BLS I also have open sores (ulcers) on their skin, usually on the face, arms, and legs. These ulcers typically develop in adolescence or young adulthood. Some people with BLS I have no symptoms of the condition.\n\nPeople with BLS I have a shortage of specialized immune proteins called major histocompatibility complex (MHC) class I proteins on cells, including infection-fighting white blood cells (lymphocytes), which is where the condition got its name.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346868">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_436379"><div><strong>Primary ciliary dyskinesia 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436379</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)&#10;Click for more information.">C2675228</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/436379">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_382707"><div><strong>Primary ciliary dyskinesia 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382707</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)&#10;Click for more information.">C2675867</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-10 (CILD10) is characterized by recurrent respiratory tract infections, sinusitis, otitis media, and bronchiectasis. Situs inversus may be present. Infertility in affected males results from immotile sperm (Omran et al., 2008, Sun et al., 2020).&#13; For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/382707">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_390990"><div><strong>Primary ciliary dyskinesia 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390990</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)&#10;Click for more information.">C2676235</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003).&#13; For a general description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/390990">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_440716"><div><strong>Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440716</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)&#10;Click for more information.">C2749137</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked retinitis pigmentosa and sinorespiratory infections with or without deafness (RPSRDF) is characterized by typical features of RP, including night blindness, constricted visual fields, progressive reduction in visual acuity, bone-spicule pigmentation, and extinguished responses on electroretinography. Affected individuals also experience severe recurrent sinorespiratory infections, and some develop progressive hearing loss. Carrier females may show an attenuated ocular and/or respiratory phenotype (Zito et al., 2003; Moore et al., 2006).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/440716">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_461557"><div><strong>Agammaglobulinemia 6, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461557</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)&#10;Click for more information.">C3150207</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/461557">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462102"><div><strong>Agammaglobulinemia 4, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462102</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)&#10;Click for more information.">C3150752</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462102">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462486"><div><strong>Primary ciliary dyskinesia 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462486</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)&#10;Click for more information.">C3151136</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-14 (CILD14) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (Merveille et al., 2011).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462486">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462487"><div><strong>Primary ciliary dyskinesia 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462487</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)&#10;Click for more information.">C3151137</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-15 (CILD15) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (summary by Becker-Heck et al., 2011).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462487">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462810"><div><strong>Primary ciliary dyskinesia 16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462810</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)&#10;Click for more information.">C3151460</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-16 (CILD16) is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms (Mazor et al., 2011).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462810">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_762261"><div><strong>Primary ciliary dyskinesia 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762261</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)&#10;Click for more information.">C3542550</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/762261">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_815417"><div><strong>Primary ciliary dyskinesia 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815417</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)&#10;Click for more information.">C3809087</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-21 (CILD21) is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function. Electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC). Video microscopy of patient cilia shows an increased beat frequency with decreased bending amplitude (summary by Wirschell et al., 2013).&#13; For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/815417">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_816031"><div><strong>Primary ciliary dyskinesia 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816031</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)&#10;Click for more information.">C3809701</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-27 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. Respiratory cilia from patients show defects in the inner dynein arms and nexin links. Situs inversus has not been reported in these patients (summary by Austin-Tse et al., 2013).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/816031">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_816542"><div><strong>Joubert syndrome 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816542</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)&#10;Click for more information.">C3810212</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/816542">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_863453"><div><strong>Primary ciliary dyskinesia 30</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863453</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)&#10;Click for more information.">C4015016</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/863453">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_896106"><div><strong>Primary ciliary dyskinesia 32</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896106</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)&#10;Click for more information.">C4225311</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-32 is an autosomal recessive disorder caused by defective structure and function of cilia. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility. The ciliary defect affects the central pair complex and radial spokes of the 9+2 motile cilia; affected individuals do not have situs abnormalities (summary by Jeanson et al., 2015).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/896106">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934688"><div><strong>Primary ciliary dyskinesia 35</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934688</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)&#10;Click for more information.">C4310721</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-35 (CILD35) is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016).&#13; For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934688">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1646059"><div><strong>Kartagener syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646059</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)&#10;Click for more information.">C4551906</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus (270100), and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003).&#13; Genetic Heterogeneity of Primary Ciliary Dyskinesia&#13; Other forms of primary ciliary dyskinesia include CILD2 (606763), caused by mutation in the DNAAF3 gene (614566) on 19q13; CILD3 (608644), caused by mutation in the DNAH5 gene (603335) on 5p15; CILD4 (608646), mapped to 15q13; CILD5 (608647), caused by mutation in the HYDIN gene (610812) on 16q22; CILD6 (610852), caused by mutation in the TXNDC3 gene (607421) on 7p14; CILD7 (611884), caused by mutation in the DNAH11 gene (603339) on 7p15; CILD8 (612274), mapped to 15q24-q25; CILD9 (612444), caused by mutation in the DNAI2 gene (605483) on 17q25; CILD10 (612518), caused by mutation in the DNAAF2 gene (612517) on 14q21; CILD11 (612649), caused by mutation in the RSPH4A gene (612647) on 6q22; CILD12 (612650), caused by mutation in the RSPH9 gene (612648) on 6p21; CILD13 (613193), caused by mutation in the DNAAF1 gene (613190) on 16q24; CILD14 (613807), caused by mutation in the CCDC39 gene (613798) gene on 3q26; CILD15 (613808), caused by mutation in the CCDC40 gene (613799) on 17q25; CILD16 (614017), caused by mutation in the DNAL1 gene (610062) on 14q24; CILD17 (614679), caused by mutation in the DNAAF19 gene (614677) on 17q21; CILD18 (614874), caused by mutation in the DNAAF5 gene (614864) on 7p22; CILD19 (614935), caused by mutation in the DNAAF11 gene (614930) on 8q24; CILD20 (615067), caused by mutation in the CCDC114 gene (615038) on 19q13; CILD21 (615294), caused by mutation in the DRC1 gene (615288) on 2p23; CILD22 (615444), caused by mutation in the ZMYND10 gene (607070) on 3p21; CILD23 (615451), caused by mutation in the ARMC4 gene (615408) on 10p; CILD24 (615481), caused by mutation in the RSPH1 gene (609314) on 21q22; CILD25 (615482), caused by mutation in the DYX1C1 gene (608706) on 15q21; CILD26 (615500), caused by mutation in the C21ORF59 gene (615494) on 21q22; CILD27 (615504), caused by mutation in the CCDC65 gene (611088) on 12q13; CILD28 (615505), caused by mutation in the SPAG1 gene (603395) on 8q22; CILD29 (615872), caused by mutation in the CCNO gene (607752) on 5q11; CILD30 (616037), caused by mutation in the CCDC151 gene (615956) on 19p13; CILD32 (616481), caused by mutation in the RSPH3 gene (615876) on 6q25; CILD33 (616726), caused by mutation in the GAS8 gene (605178) on 16q24; CILD34 (617091), caused by mutation in the DNAJB13 gene (610263) on 11q13; CILD35 (617092), caused by mutation in the TTC25 gene (617095) on 17q21; CILD36 (300991), caused by mutation in the DNAAF6 gene (300933) on Xq22; CILD37 (617577), caused by mutation in the DNAH1 gene (603332) on 3p21; CILD38 (618063), caused by mutation in the CFAP300 gene (618058) on 11q22; CILD39 (618254), caused by mutation in the LRRC56 gene (618227) on 11p15; CILD40 (618300), caused by mutation in the DNAH9 gene (603330) on 17p12; CILD41 (618449), caused by mutation in the GAS2L2 gene (611398) on 17q12; CILD42 (618695), caused by mutation in the MCIDAS gene (614086) on 5q11; CILD43 (618699), caused by mutation in the FOXJ1 gene (602291) on 17q25; CILD44 (618781), caused by mutation in the NEK10 gene (618726) on 3p24; CILD45 (618801), caused by mutation in the TTC12 gene (610732) on 11q23; CILD46 (619436), caused by mutation in the STK36 gene (607652) on 2q35; CILD47 (619466), caused by mutation in the TP73 gene (601990) on 1p36; CILD48 (620032), caused by mutation in the NME5 gene (603575) on chromosome 5q31; CILD49 (620197), caused by mutation in the CFAP74 gene (620187) on chromosome 1p36; CILD50 (620356), caused by mutation in the DNAH7 gene (610061) on chromosome 2q32; CILD51 (620438), caused by mutation in the BRWD1 gene (617824) on chromosome 21q22; CILD52 (620570), caused by mutation in the DAW1 gene (620279) on chromosome 2q36; and CILD53 (620642), caused by mutation in the CLXN gene (619564) on chromosome 8q11.&#13; Ciliary abnormalities have also been reported in association with both X-linked and autosomal forms of retinitis pigmentosa. Mutations in the RPGR gene (312610), which underlie X-linked retinitis pigmentosa (RP3; 300029), are in some instances (e.g., 312610.0016) associated with recurrent respiratory infections indistinguishable from immotile cilia syndrome; see 300455.&#13; Afzelius (1979) gave an extensive review of cilia and their disorders. There are also several possibly distinct CILDs described based on the electron microscopic appearance of abnormal cilia, including CILD with transposition of the microtubules (215520), CILD with excessively long cilia (242680), and CILD with defective radial spokes (242670).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1646059">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648465"><div><strong>Ciliary dyskinesia, primary, 38</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648465</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)&#10;Click for more information.">C4748052</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-38 is an autosomal recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in infancy and caused by defective ciliary function. Affected individuals often have neonatal respiratory distress and may later have infertility. About half of patients have laterality defects due to ciliary dysfunction in early embryonic development (summary by Fassad et al., 2018 and Hoben et al., 2018).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648465">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648365"><div><strong>Ciliary dyskinesia, primary, 40</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648365</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)&#10;Click for more information.">C4749028</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-40 (CILD40) is an autosomal recessive disorder with a relatively mild respiratory phenotype compared to other CILDs. Patients present in childhood with mild upper respiratory symptoms and infections, but typically do not develop serious lung disease. Nitric oxide levels are low-normal or normal. All reported patients have had situs inversus, including several with severe congenital cardiac malformations, but left-right body asymmetry is still theoretically random and would occur in 50% of patients (summary by Loges et al., 2018).&#13; For a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648365">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684675"><div><strong>Ciliary dyskinesia, primary, 43</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684675</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)&#10;Click for more information.">C5231466</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-43 (CILD43) is a disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Patients with this disorder also develop significant obstructive hydrocephalus requiring shunting in infancy, although adult onset of neurologic symptoms may occur. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by Wallmeier et al., 2019).&#13; For a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684675">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794229"><div><strong>Heterotaxy, visceral, 11, autosomal, with male infertility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794229</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)&#10;Click for more information.">C5562019</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Visceral heterotaxy-11 (HTX11) is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Affected individuals may experience mild chronic respiratory symptoms, but do not fulfill the criteria for primary ciliary dyskinesia (see 244400). Male infertility associated with reduced flagellar motility has been reported (Dougherty et al., 2020).&#13; For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794229">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794282"><div><strong>Heterotaxy, visceral, 10, autosomal, with male infertility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794282</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)&#10;Click for more information.">C5562072</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Visceral heterotaxy-10 (HTX10) is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Affected individuals may experience mild chronic respiratory symptoms, but do not fulfill the criteria for primary ciliary dyskinesia (see 244400). Male infertility has been reported (Ta-Shma et al., 2015; Dougherty et al., 2020).&#13; For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794282">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1812534"><div><strong>Immunodeficiency 102</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1812534</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)&#10;Click for more information.">C5676886</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Immunodeficiency-102 (IMD102) is an X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation (Delmonte et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1812534">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841109"><div><strong>Ciliary dyskinesia, primary, 50</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841109</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)&#10;Click for more information.">C5830473</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-50 (CILD50) is characterized by chronic sinusitis and bronchitis as well as male infertility. Patient sperm have markedly reduced progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) have been observed. Ultrastructurally, patients exhibit defects or loss of the inner dynein arms of the sperm flagella (Wei et al., 2021; Gao et al., 2022).&#13; For a general phenotypic description and discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841109">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1851509"><div><strong>Ciliary dyskinesia, primary, 53</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1851509</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)&#10;Click for more information.">C5882728</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-53 (CILD53) is an autosomal recessive disorder characterized by randomization of the left-right body asymmetry and respiratory symptoms (Hjeij et al., 2023).&#13; For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1851509">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)&#10;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).&#13; 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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462102" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agammaglobulinemia 4, autosomal recessive</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461557" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agammaglobulinemia 6, autosomal recessive</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648465" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 38</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648365" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 40</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684675" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 43</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (31)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841109" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 50</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1851509" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 53</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cystic fibrosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DNA ligase IV deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794282" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 10, autosomal, with male infertility</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 11, autosomal, with male infertility</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1812534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 102</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816542" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 21</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646059" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kartagener syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keutel syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346868" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MHC class I deficiency</a></div>
<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>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyglandular autoimmune syndrome, type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382707" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 10</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436379" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 12</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462486" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 14</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 15</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462810" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 16</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762261" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 17</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815417" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 21</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 27</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 30</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_896106" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 32</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 35</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_390990" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 9</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440716" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness</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/29260210">Diagnosis and First-Line Treatment of Chronic Sinusitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bergmark RW,
Pynnonen M</span><br />
<span class="medgenPMjournal">JAMA</span>
2017 Dec 19;318(23):2344-2345.
doi: 10.1001/jama.2017.18196.
<span class="bold">PMID: </span><a href="/pubmed/29260210" target="_blank">29260210</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8765390">Advances in the management of acute and chronic sinusitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sandler NA,
Johns FR,
Braun TW</span><br />
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
1996 Aug;54(8):1005-13.
doi: 10.1016/s0278-2391(96)90401-2.
<span class="bold">PMID: </span><a href="/pubmed/8765390" target="_blank">8765390</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8572253">Management of recurrent and chronic sinusitis in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Arjmand EM,
Lusk RP</span><br />
<span class="medgenPMjournal">Am J Otolaryngol</span>
1995 Nov-Dec;16(6):367-82.
doi: 10.1016/0196-0709(95)90074-8.
<span class="bold">PMID: </span><a href="/pubmed/8572253" target="_blank">8572253</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22chronic%20sinusitis%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 (191)</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/26836729">Effect of Subcutaneous Dupilumab on Nasal Polyp Burden in Patients With Chronic Sinusitis and Nasal Polyposis: A Randomized Clinical Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bachert C,
Mannent L,
Naclerio RM,
Mullol J,
Ferguson BJ,
Gevaert P,
Hellings P,
Jiao L,
Wang L,
Evans RR,
Pirozzi G,
Graham NM,
Swanson B,
Hamilton JD,
Radin A,
Gandhi NA,
Stahl N,
Yancopoulos GD,
Sutherland ER</span><br />
<span class="medgenPMjournal">JAMA</span>
2016 Feb 2;315(5):469-79.
doi: 10.1001/jama.2015.19330.
<span class="bold">PMID: </span><a href="/pubmed/26836729" target="_blank">26836729</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25145900">When do the risks of repeated courses of corticosteroids exceed the risks of surgery?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leung RM,
Dinnie K,
Smith TL</span><br />
<span class="medgenPMjournal">Int Forum Allergy Rhinol</span>
2014 Nov;4(11):871-6.
Epub 2014 Aug 21
doi: 10.1002/alr.21377.
<span class="bold">PMID: </span><a href="/pubmed/25145900" target="_blank">25145900</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22893188">Just chronic sinusitis?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McMahon NS,
Cooper M,
Iorember F,
English R</span><br />
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
2012 Nov;51(11):1099-102.
Epub 2012 Aug 14
doi: 10.1177/0009922812456900.
<span class="bold">PMID: </span><a href="/pubmed/22893188" target="_blank">22893188</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20425009">The role of local steroid injection for nasal polyposis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Antunes MB,
Becker SS</span><br />
<span class="medgenPMjournal">Curr Allergy Asthma Rep</span>
2010 May;10(3):175-80.
doi: 10.1007/s11882-010-0104-4.
<span class="bold">PMID: </span><a href="/pubmed/20425009" target="_blank">20425009</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3285450">Nasal antrostomy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Buiter CT</span><br />
<span class="medgenPMjournal">Rhinology</span>
1988 Mar;26(1):5-18.
<span class="bold">PMID: </span><a href="/pubmed/3285450" target="_blank">3285450</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chronic%20sinusitis%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 (1087)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39939093">Sinusitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wilcox J,
Lobo D,
Anderson S</span><br />
<span class="medgenPMjournal">Prim Care</span>
2025 Mar;52(1):87-97.
Epub 2025 Jan 3
doi: 10.1016/j.pop.2024.09.010.
<span class="bold">PMID: </span><a href="/pubmed/39939093" target="_blank">39939093</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34391539">Acute and Chronic Sinusitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bleier BS,
Paz-Lansberg M</span><br />
<span class="medgenPMjournal">Med Clin North Am</span>
2021 Sep;105(5):859-870.
Epub 2021 Jul 12
doi: 10.1016/j.mcna.2021.05.008.
<span class="bold">PMID: </span><a href="/pubmed/34391539" target="_blank">34391539</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32278448">Primary Immunodeficiency and Rhinosinusitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huwyler C,
Lin SY,
Liang J</span><br />
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
2020 May;40(2):233-249.
Epub 2020 Jan 18
doi: 10.1016/j.iac.2019.12.003.
<span class="bold">PMID: </span><a href="/pubmed/32278448" target="_blank">32278448</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27622225">Sinusitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morcom S,
Phillips N,
Pastuszek A,
Timperley D</span><br />
<span class="medgenPMjournal">Aust Fam Physician</span>
2016 Jun;45(6):374-7.
<span class="bold">PMID: </span><a href="/pubmed/27622225" target="_blank">27622225</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8201581">Chronic sinusitis in cystic fibrosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mackay IS,
Djazaeri B</span><br />
<span class="medgenPMjournal">J R Soc Med</span>
1994;87 Suppl 21(Suppl 21):17-9.
<span class="bold">PMID: </span><a href="/pubmed/8201581" target="_blank">8201581</a><a href="/pmc/articles/PMC1294260" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chronic%20sinusitis%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 (1049)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38217825">Mast Cells in Aspirin-Exacerbated Respiratory Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abud EM,
White AA</span><br />
<span class="medgenPMjournal">Curr Allergy Asthma Rep</span>
2024 Feb;24(2):73-80.
Epub 2024 Jan 13
doi: 10.1007/s11882-024-01125-1.
<span class="bold">PMID: </span><a href="/pubmed/38217825" target="_blank">38217825</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34391539">Acute and Chronic Sinusitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bleier BS,
Paz-Lansberg M</span><br />
<span class="medgenPMjournal">Med Clin North Am</span>
2021 Sep;105(5):859-870.
Epub 2021 Jul 12
doi: 10.1016/j.mcna.2021.05.008.
<span class="bold">PMID: </span><a href="/pubmed/34391539" target="_blank">34391539</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28325633">Trends in the Use of Stents and Drug-Eluting Stents in Sinus Surgery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hauser LJ,
Turner JH,
Chandra RK</span><br />
<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
2017 Jun;50(3):565-571.
Epub 2017 Mar 18
doi: 10.1016/j.otc.2017.01.007.
<span class="bold">PMID: </span><a href="/pubmed/28325633" target="_blank">28325633</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4131997">Letter: Chronic sinusitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zermansky AG</span><br />
<span class="medgenPMjournal">Lancet</span>
1974 Mar 30;1(7857):561.
doi: 10.1016/s0140-6736(74)92740-8.
<span class="bold">PMID: </span><a href="/pubmed/4131997" target="_blank">4131997</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4131440">Editorial: Chronic sinusitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMjournal">Lancet</span>
1974 Mar 16;1(7855):442.
<span class="bold">PMID: </span><a href="/pubmed/4131440" target="_blank">4131440</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chronic%20sinusitis%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 (770)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/27270341">Genetic factors contributing to human primary ciliary dyskinesia and male infertility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ji ZY,
Sha YW,
Ding L,
Li P</span><br />
<span class="medgenPMjournal">Asian J Androl</span>
2017 Sep-Oct;19(5):515-520.
doi: 10.4103/1008-682X.181227.
<span class="bold">PMID: </span><a href="/pubmed/27270341" target="_blank">27270341</a><a href="/pmc/articles/PMC5566842" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25145900">When do the risks of repeated courses of corticosteroids exceed the risks of surgery?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leung RM,
Dinnie K,
Smith TL</span><br />
<span class="medgenPMjournal">Int Forum Allergy Rhinol</span>
2014 Nov;4(11):871-6.
Epub 2014 Aug 21
doi: 10.1002/alr.21377.
<span class="bold">PMID: </span><a href="/pubmed/25145900" target="_blank">25145900</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22893188">Just chronic sinusitis?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McMahon NS,
Cooper M,
Iorember F,
English R</span><br />
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
2012 Nov;51(11):1099-102.
Epub 2012 Aug 14
doi: 10.1177/0009922812456900.
<span class="bold">PMID: </span><a href="/pubmed/22893188" target="_blank">22893188</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9046697">Microsporidium-associated sinusitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moss RB,
Beaudet LM,
Wenig BM,
Nelson AM,
Firpo A,
Punja U,
Scott TS,
Kaliner MA</span><br />
<span class="medgenPMjournal">Ear Nose Throat J</span>
1997 Feb;76(2):95-101.
<span class="bold">PMID: </span><a href="/pubmed/9046697" target="_blank">9046697</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8313679">Diffuse panbronchiolitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sugiyama Y</span><br />
<span class="medgenPMjournal">Clin Chest Med</span>
1993 Dec;14(4):765-72.
<span class="bold">PMID: </span><a href="/pubmed/8313679" target="_blank">8313679</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chronic%20sinusitis%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 (470)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/31537079">Treatment of Recalcitrant Maxillary Sinusitis With Endoscopic Modified Medial Maxillectomy: A Systematic Review of Safety and Efficacy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Loftus CA,
Yoo F,
Desiato VM,
Schlosser RJ,
Soler ZM</span><br />
<span class="medgenPMjournal">Am J Rhinol Allergy</span>
2020 Jan;34(1):127-133.
Epub 2019 Sep 19
doi: 10.1177/1945892419876394.
<span class="bold">PMID: </span><a href="/pubmed/31537079" target="_blank">31537079</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26836729">Effect of Subcutaneous Dupilumab on Nasal Polyp Burden in Patients With Chronic Sinusitis and Nasal Polyposis: A Randomized Clinical Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bachert C,
Mannent L,
Naclerio RM,
Mullol J,
Ferguson BJ,
Gevaert P,
Hellings P,
Jiao L,
Wang L,
Evans RR,
Pirozzi G,
Graham NM,
Swanson B,
Hamilton JD,
Radin A,
Gandhi NA,
Stahl N,
Yancopoulos GD,
Sutherland ER</span><br />
<span class="medgenPMjournal">JAMA</span>
2016 Feb 2;315(5):469-79.
doi: 10.1001/jama.2015.19330.
<span class="bold">PMID: </span><a href="/pubmed/26836729" target="_blank">26836729</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12243237">Chronic sinusitis and allergic rhinitis: at the nexus of sinonasal inflammatory disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pinto JM,
Baroody FM</span><br />
<span class="medgenPMjournal">J Otolaryngol</span>
2002 Aug;31 Suppl 1:S10-7.
doi: 10.2310/7070.2002.21310.
<span class="bold">PMID: </span><a href="/pubmed/12243237" target="_blank">12243237</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9444371">Allergy and sinusitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bertrand B,
Eloy P,
Rombeaux P</span><br />
<span class="medgenPMjournal">Acta Otorhinolaryngol Belg</span>
1997;51(4):227-37.
<span class="bold">PMID: </span><a href="/pubmed/9444371" target="_blank">9444371</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9046697">Microsporidium-associated sinusitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moss RB,
Beaudet LM,
Wenig BM,
Nelson AM,
Firpo A,
Punja U,
Scott TS,
Kaliner MA</span><br />
<span class="medgenPMjournal">Ear Nose Throat J</span>
1997 Feb;76(2):95-101.
<span class="bold">PMID: </span><a href="/pubmed/9046697" target="_blank">9046697</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chronic%20sinusitis%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 (616)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/35968734">Retained Dental Implant in the Maxillary Sinus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu D,
Jang S,
Suh JD,
Borrelli M,
Nasrollahi T,
Raskin J,
Ference EH</span><br />
<span class="medgenPMjournal">Ear Nose Throat J</span>
2022 Dec;101(10_suppl):6S-11S.
Epub 2022 Aug 15
doi: 10.1177/01455613221121043.
<span class="bold">PMID: </span><a href="/pubmed/35968734" target="_blank">35968734</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31910642">Review and Analysis of Research Trends in Surgical Treatment of Pediatric Chronic Sinusitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shetty KR,
Soh HH,
Kahn C,
Wang R,
Shetty A,
Brook C,
Levi JR</span><br />
<span class="medgenPMjournal">Am J Rhinol Allergy</span>
2020 May;34(3):428-435.
Epub 2020 Jan 7
doi: 10.1177/1945892419896240.
<span class="bold">PMID: </span><a href="/pubmed/31910642" target="_blank">31910642</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31537079">Treatment of Recalcitrant Maxillary Sinusitis With Endoscopic Modified Medial Maxillectomy: A Systematic Review of Safety and Efficacy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Loftus CA,
Yoo F,
Desiato VM,
Schlosser RJ,
Soler ZM</span><br />
<span class="medgenPMjournal">Am J Rhinol Allergy</span>
2020 Jan;34(1):127-133.
Epub 2019 Sep 19
doi: 10.1177/1945892419876394.
<span class="bold">PMID: </span><a href="/pubmed/31537079" target="_blank">31537079</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27187624">Primary immunodeficiency and recalcitrant chronic sinusitis: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mazza JM,
Lin SY</span><br />
<span class="medgenPMjournal">Int Forum Allergy Rhinol</span>
2016 Oct;6(10):1029-1033.
Epub 2016 May 17
doi: 10.1002/alr.21789.
<span class="bold">PMID: </span><a href="/pubmed/27187624" target="_blank">27187624</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25997528">Percutaneous endoscopic gastrostomy versus nasogastric tube feeding for adults with swallowing disturbances.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gomes CA Jr,
Andriolo RB,
Bennett C,
Lustosa SA,
Matos D,
Waisberg DR,
Waisberg J</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2015 May 22;2015(5):CD008096.
doi: 10.1002/14651858.CD008096.pub4.
<span class="bold">PMID: </span><a href="/pubmed/25997528" target="_blank">25997528</a><a href="/pmc/articles/PMC6464742" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chronic%20sinusitis%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (47)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Chronic%20sinusitis" 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>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22chronic%20sinusitis%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(%22Chronic%20sinusitis%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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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Chronic%20sinusitis" target="_blank">MedlinePlus</a></li></ul></div>
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