Congenital H-ficolin deficiency in premature infants with severe necrotising enterocolitis
While low levels of MBL occur in 10% of Caucasians, H-ficolin deficiency is extremely rare: studies involving over 100 000 adults found no case of H-ficolin deficiency, suggesting it exerts crucial functions for the human immune system. 2 The first report on the so far only patient diagnosed with H-...
Gespeichert in:
| Veröffentlicht in: | Gut 2011-10, Vol.60 (10), p.1438-1439 |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1439 |
|---|---|
| container_issue | 10 |
| container_start_page | 1438 |
| container_title | Gut |
| container_volume | 60 |
| creator | Schlapbach, Luregn J Thiel, Steffen Kessler, Ulf Ammann, Roland A Aebi, Christoph Jensenius, Jens C |
| description | While low levels of MBL occur in 10% of Caucasians, H-ficolin deficiency is extremely rare: studies involving over 100 000 adults found no case of H-ficolin deficiency, suggesting it exerts crucial functions for the human immune system. 2 The first report on the so far only patient diagnosed with H-ficolin deficiency was published only recently, 3 describing a patient with repeated infections who presented with H-ficolin deficiency caused by homozygosity of the FCN3+1637delC frameshift mutation. With a gene frequency of 0.01, homozygosity is expected in 1 out of 10 000 individuals. 3 Necrotising enterocolitis (NEC) is an overwhelming inflammatory disease typically occurring in premature neonates, characterised by failure of the host to contain local infection, which results in extensive bowel necrosis. 4 To date, it remains unclear why some infants develop NEC while others do not. |
| doi_str_mv | 10.1136/gut.2010.226027 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_887944272</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1753473691</sourcerecordid><originalsourceid>FETCH-LOGICAL-b430t-ae422fec3295975294cbf5c272a642575d3093d749b1c988fd65566813eacfc23</originalsourceid><addsrcrecordid>eNqFkUtv1DAUhS0EokNhzQ5FYgGqlNaP-LVEI2irVlCh0gUby3FuBg-JM9gO0H9fj1K6YAEr-1x_PtbxQeglwceEMHGymfMxxUVRKjCVj9CKNELVjCr1GK0wJrLmstEH6FlKW4yxUpo8RQcUa0m0FCv0dT2FDQSf7VCd1b130-BD1UHZeQjutipqF2G0eY5QRG9DTtUvn79VCX5CmQVwcco--bCpIGSI096jDJ6jJ70dEry4Xw_Rlw_vr9dn9eWn0_P1u8u6bRjOtYWG0h4co5pryaluXNtzRyW1oqFc8o5hzbqSoiVOK9V3gnMhFGFgXe8oO0RvFt9dnH7MkLIZfXIwDDbANCejlNRNU_wK-fafJJGcNZIJTQr6-i90O80xlByFkppxzLgo1MlClS9IKUJvdtGPNt4ags2-IFMKMvuCzFJQufHq3nduR-ge-D-NFKBeAJ8y_H44t_G7EZJJbj7erA27-Xx6dXF9ZfaZjha-Hbf_ff0Op6mnzw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1779350356</pqid></control><display><type>article</type><title>Congenital H-ficolin deficiency in premature infants with severe necrotising enterocolitis</title><source>MEDLINE</source><source>BMJ Journals - NESLi2</source><source>PubMed Central</source><creator>Schlapbach, Luregn J ; Thiel, Steffen ; Kessler, Ulf ; Ammann, Roland A ; Aebi, Christoph ; Jensenius, Jens C</creator><creatorcontrib>Schlapbach, Luregn J ; Thiel, Steffen ; Kessler, Ulf ; Ammann, Roland A ; Aebi, Christoph ; Jensenius, Jens C</creatorcontrib><description>While low levels of MBL occur in 10% of Caucasians, H-ficolin deficiency is extremely rare: studies involving over 100 000 adults found no case of H-ficolin deficiency, suggesting it exerts crucial functions for the human immune system. 2 The first report on the so far only patient diagnosed with H-ficolin deficiency was published only recently, 3 describing a patient with repeated infections who presented with H-ficolin deficiency caused by homozygosity of the FCN3+1637delC frameshift mutation. With a gene frequency of 0.01, homozygosity is expected in 1 out of 10 000 individuals. 3 Necrotising enterocolitis (NEC) is an overwhelming inflammatory disease typically occurring in premature neonates, characterised by failure of the host to contain local infection, which results in extensive bowel necrosis. 4 To date, it remains unclear why some infants develop NEC while others do not.</description><identifier>ISSN: 0017-5749</identifier><identifier>EISSN: 1468-3288</identifier><identifier>DOI: 10.1136/gut.2010.226027</identifier><identifier>PMID: 20971976</identifier><identifier>CODEN: GUTTAK</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd and British Society of Gastroenterology</publisher><subject>Age ; Animals ; Antibodies, Fungal - biosynthesis ; Colitis - microbiology ; complement ; Congenital diseases ; Disease ; ficolin ; Humans ; immunodeficiency ; Infections ; Inflammation ; Innate immunity ; Intestinal Mucosa - metabolism ; Lectins ; Mannose - metabolism ; Mannose-Binding Lectin - deficiency ; necrotising enterocolitis ; Patients</subject><ispartof>Gut, 2011-10, Vol.60 (10), p.1438-1439</ispartof><rights>2011, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.</rights><rights>Copyright: 2011 (c) 2011, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b430t-ae422fec3295975294cbf5c272a642575d3093d749b1c988fd65566813eacfc23</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttp://gut.bmj.com/content/60/10/1438.full.pdf$$EPDF$$P50$$Gbmj$$H</linktopdf><linktohtml>$$Uhttp://gut.bmj.com/content/60/10/1438.full$$EHTML$$P50$$Gbmj$$H</linktohtml><link.rule.ids>114,115,315,782,786,3200,23580,27933,27934,77610,77641</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20971976$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Schlapbach, Luregn J</creatorcontrib><creatorcontrib>Thiel, Steffen</creatorcontrib><creatorcontrib>Kessler, Ulf</creatorcontrib><creatorcontrib>Ammann, Roland A</creatorcontrib><creatorcontrib>Aebi, Christoph</creatorcontrib><creatorcontrib>Jensenius, Jens C</creatorcontrib><title>Congenital H-ficolin deficiency in premature infants with severe necrotising enterocolitis</title><title>Gut</title><addtitle>Gut</addtitle><description>While low levels of MBL occur in 10% of Caucasians, H-ficolin deficiency is extremely rare: studies involving over 100 000 adults found no case of H-ficolin deficiency, suggesting it exerts crucial functions for the human immune system. 2 The first report on the so far only patient diagnosed with H-ficolin deficiency was published only recently, 3 describing a patient with repeated infections who presented with H-ficolin deficiency caused by homozygosity of the FCN3+1637delC frameshift mutation. With a gene frequency of 0.01, homozygosity is expected in 1 out of 10 000 individuals. 3 Necrotising enterocolitis (NEC) is an overwhelming inflammatory disease typically occurring in premature neonates, characterised by failure of the host to contain local infection, which results in extensive bowel necrosis. 4 To date, it remains unclear why some infants develop NEC while others do not.</description><subject>Age</subject><subject>Animals</subject><subject>Antibodies, Fungal - biosynthesis</subject><subject>Colitis - microbiology</subject><subject>complement</subject><subject>Congenital diseases</subject><subject>Disease</subject><subject>ficolin</subject><subject>Humans</subject><subject>immunodeficiency</subject><subject>Infections</subject><subject>Inflammation</subject><subject>Innate immunity</subject><subject>Intestinal Mucosa - metabolism</subject><subject>Lectins</subject><subject>Mannose - metabolism</subject><subject>Mannose-Binding Lectin - deficiency</subject><subject>necrotising enterocolitis</subject><subject>Patients</subject><issn>0017-5749</issn><issn>1468-3288</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkUtv1DAUhS0EokNhzQ5FYgGqlNaP-LVEI2irVlCh0gUby3FuBg-JM9gO0H9fj1K6YAEr-1x_PtbxQeglwceEMHGymfMxxUVRKjCVj9CKNELVjCr1GK0wJrLmstEH6FlKW4yxUpo8RQcUa0m0FCv0dT2FDQSf7VCd1b130-BD1UHZeQjutipqF2G0eY5QRG9DTtUvn79VCX5CmQVwcco--bCpIGSI096jDJ6jJ70dEry4Xw_Rlw_vr9dn9eWn0_P1u8u6bRjOtYWG0h4co5pryaluXNtzRyW1oqFc8o5hzbqSoiVOK9V3gnMhFGFgXe8oO0RvFt9dnH7MkLIZfXIwDDbANCejlNRNU_wK-fafJJGcNZIJTQr6-i90O80xlByFkppxzLgo1MlClS9IKUJvdtGPNt4ags2-IFMKMvuCzFJQufHq3nduR-ge-D-NFKBeAJ8y_H44t_G7EZJJbj7erA27-Xx6dXF9ZfaZjha-Hbf_ff0Op6mnzw</recordid><startdate>20111001</startdate><enddate>20111001</enddate><creator>Schlapbach, Luregn J</creator><creator>Thiel, Steffen</creator><creator>Kessler, Ulf</creator><creator>Ammann, Roland A</creator><creator>Aebi, Christoph</creator><creator>Jensenius, Jens C</creator><general>BMJ Publishing Group Ltd and British Society of Gastroenterology</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7T5</scope><scope>H94</scope><scope>7X8</scope></search><sort><creationdate>20111001</creationdate><title>Congenital H-ficolin deficiency in premature infants with severe necrotising enterocolitis</title><author>Schlapbach, Luregn J ; Thiel, Steffen ; Kessler, Ulf ; Ammann, Roland A ; Aebi, Christoph ; Jensenius, Jens C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b430t-ae422fec3295975294cbf5c272a642575d3093d749b1c988fd65566813eacfc23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Age</topic><topic>Animals</topic><topic>Antibodies, Fungal - biosynthesis</topic><topic>Colitis - microbiology</topic><topic>complement</topic><topic>Congenital diseases</topic><topic>Disease</topic><topic>ficolin</topic><topic>Humans</topic><topic>immunodeficiency</topic><topic>Infections</topic><topic>Inflammation</topic><topic>Innate immunity</topic><topic>Intestinal Mucosa - metabolism</topic><topic>Lectins</topic><topic>Mannose - metabolism</topic><topic>Mannose-Binding Lectin - deficiency</topic><topic>necrotising enterocolitis</topic><topic>Patients</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Schlapbach, Luregn J</creatorcontrib><creatorcontrib>Thiel, Steffen</creatorcontrib><creatorcontrib>Kessler, Ulf</creatorcontrib><creatorcontrib>Ammann, Roland A</creatorcontrib><creatorcontrib>Aebi, Christoph</creatorcontrib><creatorcontrib>Jensenius, Jens C</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>ProQuest - Health & Medical Complete保健、医学与药学数据库</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection (Proquest) (PQ_SDU_P3)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biological Sciences</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Gut</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Schlapbach, Luregn J</au><au>Thiel, Steffen</au><au>Kessler, Ulf</au><au>Ammann, Roland A</au><au>Aebi, Christoph</au><au>Jensenius, Jens C</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Congenital H-ficolin deficiency in premature infants with severe necrotising enterocolitis</atitle><jtitle>Gut</jtitle><addtitle>Gut</addtitle><date>2011-10-01</date><risdate>2011</risdate><volume>60</volume><issue>10</issue><spage>1438</spage><epage>1439</epage><pages>1438-1439</pages><issn>0017-5749</issn><eissn>1468-3288</eissn><coden>GUTTAK</coden><abstract>While low levels of MBL occur in 10% of Caucasians, H-ficolin deficiency is extremely rare: studies involving over 100 000 adults found no case of H-ficolin deficiency, suggesting it exerts crucial functions for the human immune system. 2 The first report on the so far only patient diagnosed with H-ficolin deficiency was published only recently, 3 describing a patient with repeated infections who presented with H-ficolin deficiency caused by homozygosity of the FCN3+1637delC frameshift mutation. With a gene frequency of 0.01, homozygosity is expected in 1 out of 10 000 individuals. 3 Necrotising enterocolitis (NEC) is an overwhelming inflammatory disease typically occurring in premature neonates, characterised by failure of the host to contain local infection, which results in extensive bowel necrosis. 4 To date, it remains unclear why some infants develop NEC while others do not.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd and British Society of Gastroenterology</pub><pmid>20971976</pmid><doi>10.1136/gut.2010.226027</doi><tpages>2</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0017-5749 |
| ispartof | Gut, 2011-10, Vol.60 (10), p.1438-1439 |
| issn | 0017-5749 1468-3288 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_887944272 |
| source | MEDLINE; BMJ Journals - NESLi2; PubMed Central |
| subjects | Age Animals Antibodies, Fungal - biosynthesis Colitis - microbiology complement Congenital diseases Disease ficolin Humans immunodeficiency Infections Inflammation Innate immunity Intestinal Mucosa - metabolism Lectins Mannose - metabolism Mannose-Binding Lectin - deficiency necrotising enterocolitis Patients |
| title | Congenital H-ficolin deficiency in premature infants with severe necrotising enterocolitis |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-03T14%3A11%3A05IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Congenital%20H-ficolin%20deficiency%20in%20premature%20infants%20with%20severe%20necrotising%20enterocolitis&rft.jtitle=Gut&rft.au=Schlapbach,%20Luregn%20J&rft.date=2011-10-01&rft.volume=60&rft.issue=10&rft.spage=1438&rft.epage=1439&rft.pages=1438-1439&rft.issn=0017-5749&rft.eissn=1468-3288&rft.coden=GUTTAK&rft_id=info:doi/10.1136/gut.2010.226027&rft_dat=%3Cproquest_cross%3E1753473691%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1779350356&rft_id=info:pmid/20971976&rfr_iscdi=true |