Pulmonary Mycobacterium abscessus: A canary in the cystic fibrosis coalmine
Summary We present a case of pulmonary nontuberculous mycobacterial infection (PNTM) with M. abscessus. After exclusion of genetic immune disorders known to cause NTM susceptibility, we found compound heterozygosity of two mutations, F508del and R117H in CFTR. The combination of F508del with a hypom...
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| Veröffentlicht in: | The Journal of infection 2012-06, Vol.64 (6), p.609-612 |
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| container_title | The Journal of infection |
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| creator | Haverkamp, Margje H van Wengen, Annelies de Visser, Adriëtte W van Kralingen, Klaas W van Dissel, Jaap T van de Vosse, Esther |
| description | Summary We present a case of pulmonary nontuberculous mycobacterial infection (PNTM) with M. abscessus. After exclusion of genetic immune disorders known to cause NTM susceptibility, we found compound heterozygosity of two mutations, F508del and R117H in CFTR. The combination of F508del with a hypomorphic CFTR mutation can cause a mild Cystic Fibrosis (CF) phenotype with delayed CF symptoms in adulthood. Although the patient was continuously treated for her lung infection by different physicians for more than twenty years, the diagnosis CF had been missed. The forme fruste of CF should be considered in the analysis of host factors predisposing for PNTM. |
| doi_str_mv | 10.1016/j.jinf.2012.02.010 |
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After exclusion of genetic immune disorders known to cause NTM susceptibility, we found compound heterozygosity of two mutations, F508del and R117H in CFTR. The combination of F508del with a hypomorphic CFTR mutation can cause a mild Cystic Fibrosis (CF) phenotype with delayed CF symptoms in adulthood. Although the patient was continuously treated for her lung infection by different physicians for more than twenty years, the diagnosis CF had been missed. The forme fruste of CF should be considered in the analysis of host factors predisposing for PNTM.</description><identifier>ISSN: 0163-4453</identifier><identifier>EISSN: 1532-2742</identifier><identifier>DOI: 10.1016/j.jinf.2012.02.010</identifier><identifier>PMID: 22366207</identifier><identifier>CODEN: JINFD2</identifier><language>eng</language><publisher>Amsterdam: Elsevier Ltd</publisher><subject>Adult ; Atypical mycobacteria ; Biological and medical sciences ; Cystic fibrosis ; Cystic Fibrosis - complications ; Cystic Fibrosis - genetics ; Cystic fibrosis transmembrane conductance regulator ; Cystic Fibrosis Transmembrane Conductance Regulator - genetics ; Errors of metabolism ; Female ; General aspects ; Heterozygosity ; Heterozygote ; Humans ; Infection ; Infectious Disease ; Lung ; Lung Abscess - diagnosis ; Lung Abscess - microbiology ; Lung Abscess - pathology ; Medical sciences ; Mendelian susceptibility to mycobacterial disease ; Metabolic diseases ; Miscellaneous hereditary metabolic disorders ; Mutation ; Mutation, Missense ; Mycobacterium ; Mycobacterium abscessus ; Mycobacterium Infections, Nontuberculous - diagnosis ; Mycobacterium Infections, Nontuberculous - microbiology ; Mycobacterium Infections, Nontuberculous - pathology ; Nontuberculous Mycobacteria - isolation & purification ; Sequence Deletion</subject><ispartof>The Journal of infection, 2012-06, Vol.64 (6), p.609-612</ispartof><rights>The British Infection Association</rights><rights>2012 The British Infection Association</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2012 The British Infection Association. Published by Elsevier Ltd. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c474t-8f2406ba31de09a35cd23e62d1d69f5aaabc48c5f935a6da5e37887e389d595a3</citedby><cites>FETCH-LOGICAL-c474t-8f2406ba31de09a35cd23e62d1d69f5aaabc48c5f935a6da5e37887e389d595a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.jinf.2012.02.010$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3548,27922,27923,45993</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25888824$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22366207$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Haverkamp, Margje H</creatorcontrib><creatorcontrib>van Wengen, Annelies</creatorcontrib><creatorcontrib>de Visser, Adriëtte W</creatorcontrib><creatorcontrib>van Kralingen, Klaas W</creatorcontrib><creatorcontrib>van Dissel, Jaap T</creatorcontrib><creatorcontrib>van de Vosse, Esther</creatorcontrib><title>Pulmonary Mycobacterium abscessus: A canary in the cystic fibrosis coalmine</title><title>The Journal of infection</title><addtitle>J Infect</addtitle><description>Summary We present a case of pulmonary nontuberculous mycobacterial infection (PNTM) with M. abscessus. After exclusion of genetic immune disorders known to cause NTM susceptibility, we found compound heterozygosity of two mutations, F508del and R117H in CFTR. The combination of F508del with a hypomorphic CFTR mutation can cause a mild Cystic Fibrosis (CF) phenotype with delayed CF symptoms in adulthood. Although the patient was continuously treated for her lung infection by different physicians for more than twenty years, the diagnosis CF had been missed. The forme fruste of CF should be considered in the analysis of host factors predisposing for PNTM.</description><subject>Adult</subject><subject>Atypical mycobacteria</subject><subject>Biological and medical sciences</subject><subject>Cystic fibrosis</subject><subject>Cystic Fibrosis - complications</subject><subject>Cystic Fibrosis - genetics</subject><subject>Cystic fibrosis transmembrane conductance regulator</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>General aspects</subject><subject>Heterozygosity</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Infection</subject><subject>Infectious Disease</subject><subject>Lung</subject><subject>Lung Abscess - diagnosis</subject><subject>Lung Abscess - microbiology</subject><subject>Lung Abscess - pathology</subject><subject>Medical sciences</subject><subject>Mendelian susceptibility to mycobacterial disease</subject><subject>Metabolic diseases</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Mycobacterium</subject><subject>Mycobacterium abscessus</subject><subject>Mycobacterium Infections, Nontuberculous - diagnosis</subject><subject>Mycobacterium Infections, Nontuberculous - microbiology</subject><subject>Mycobacterium Infections, Nontuberculous - pathology</subject><subject>Nontuberculous Mycobacteria - isolation & purification</subject><subject>Sequence Deletion</subject><issn>0163-4453</issn><issn>1532-2742</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkk2L1EAQhhtxcWdH_4AHyUXwktn-TiIiLMv6wa4oqOem0l3BjklntzsR5t_bcUYFD7JNQV-etz7eKkKeMrpjlOnzftf70O04ZXxHczD6gGyYErzkleQPySZDopRSiVNyllJPKW1Eox-RU86F1pxWG3L9aRnGKUDcFx_2dmrBzhj9MhbQJospLellcVFY-EX4UMzfsLD7NHtbdL6NU_KpsBMMow_4mJx0MCR8cvy35Oubqy-X78qbj2_fX17clFZWci7rjkuqWxDMIW1AKOu4QM0dc7rpFAC0VtZWdY1QoB0oFFVdVyjqxqlGgdiSF4e8t3G6WzDNZvS52WGAgNOSDKOi1rTRit8DZdmrWldVRvkBtXmqFLEzt9GPeewMrZw2vVn9NqvfhubIdbbk2TH_0o7o_kh-G5yB50cAkoWhixCsT385VefHZeZeHTjMxv3wGE2yHoNF5yPa2bjJ_7-P1__I7eCDzxW_4x5TPy0x5JUYZlIWmM_rZayHwXg-Ckmp-AnsrrJI</recordid><startdate>20120601</startdate><enddate>20120601</enddate><creator>Haverkamp, Margje H</creator><creator>van Wengen, Annelies</creator><creator>de Visser, Adriëtte W</creator><creator>van Kralingen, Klaas W</creator><creator>van Dissel, Jaap T</creator><creator>van de Vosse, Esther</creator><general>Elsevier Ltd</general><general>Elsevier</general><scope>IQODW</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>7X8</scope><scope>7QL</scope><scope>C1K</scope></search><sort><creationdate>20120601</creationdate><title>Pulmonary Mycobacterium abscessus: A canary in the cystic fibrosis coalmine</title><author>Haverkamp, Margje H ; van Wengen, Annelies ; de Visser, Adriëtte W ; van Kralingen, Klaas W ; van Dissel, Jaap T ; van de Vosse, Esther</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c474t-8f2406ba31de09a35cd23e62d1d69f5aaabc48c5f935a6da5e37887e389d595a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adult</topic><topic>Atypical mycobacteria</topic><topic>Biological and medical sciences</topic><topic>Cystic fibrosis</topic><topic>Cystic Fibrosis - complications</topic><topic>Cystic Fibrosis - genetics</topic><topic>Cystic fibrosis transmembrane conductance regulator</topic><topic>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>General aspects</topic><topic>Heterozygosity</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Infection</topic><topic>Infectious Disease</topic><topic>Lung</topic><topic>Lung Abscess - diagnosis</topic><topic>Lung Abscess - microbiology</topic><topic>Lung Abscess - pathology</topic><topic>Medical sciences</topic><topic>Mendelian susceptibility to mycobacterial disease</topic><topic>Metabolic diseases</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Mutation</topic><topic>Mutation, Missense</topic><topic>Mycobacterium</topic><topic>Mycobacterium abscessus</topic><topic>Mycobacterium Infections, Nontuberculous - diagnosis</topic><topic>Mycobacterium Infections, Nontuberculous - microbiology</topic><topic>Mycobacterium Infections, Nontuberculous - pathology</topic><topic>Nontuberculous Mycobacteria - isolation & purification</topic><topic>Sequence Deletion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Haverkamp, Margje H</creatorcontrib><creatorcontrib>van Wengen, Annelies</creatorcontrib><creatorcontrib>de Visser, Adriëtte W</creatorcontrib><creatorcontrib>van Kralingen, Klaas W</creatorcontrib><creatorcontrib>van Dissel, Jaap T</creatorcontrib><creatorcontrib>van de Vosse, Esther</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Environmental Sciences and Pollution Management</collection><jtitle>The Journal of infection</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Haverkamp, Margje H</au><au>van Wengen, Annelies</au><au>de Visser, Adriëtte W</au><au>van Kralingen, Klaas W</au><au>van Dissel, Jaap T</au><au>van de Vosse, Esther</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Pulmonary Mycobacterium abscessus: A canary in the cystic fibrosis coalmine</atitle><jtitle>The Journal of infection</jtitle><addtitle>J Infect</addtitle><date>2012-06-01</date><risdate>2012</risdate><volume>64</volume><issue>6</issue><spage>609</spage><epage>612</epage><pages>609-612</pages><issn>0163-4453</issn><eissn>1532-2742</eissn><coden>JINFD2</coden><abstract>Summary We present a case of pulmonary nontuberculous mycobacterial infection (PNTM) with M. abscessus. After exclusion of genetic immune disorders known to cause NTM susceptibility, we found compound heterozygosity of two mutations, F508del and R117H in CFTR. The combination of F508del with a hypomorphic CFTR mutation can cause a mild Cystic Fibrosis (CF) phenotype with delayed CF symptoms in adulthood. Although the patient was continuously treated for her lung infection by different physicians for more than twenty years, the diagnosis CF had been missed. The forme fruste of CF should be considered in the analysis of host factors predisposing for PNTM.</abstract><cop>Amsterdam</cop><pub>Elsevier Ltd</pub><pmid>22366207</pmid><doi>10.1016/j.jinf.2012.02.010</doi><tpages>4</tpages></addata></record> |
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| subjects | Adult Atypical mycobacteria Biological and medical sciences Cystic fibrosis Cystic Fibrosis - complications Cystic Fibrosis - genetics Cystic fibrosis transmembrane conductance regulator Cystic Fibrosis Transmembrane Conductance Regulator - genetics Errors of metabolism Female General aspects Heterozygosity Heterozygote Humans Infection Infectious Disease Lung Lung Abscess - diagnosis Lung Abscess - microbiology Lung Abscess - pathology Medical sciences Mendelian susceptibility to mycobacterial disease Metabolic diseases Miscellaneous hereditary metabolic disorders Mutation Mutation, Missense Mycobacterium Mycobacterium abscessus Mycobacterium Infections, Nontuberculous - diagnosis Mycobacterium Infections, Nontuberculous - microbiology Mycobacterium Infections, Nontuberculous - pathology Nontuberculous Mycobacteria - isolation & purification Sequence Deletion |
| title | Pulmonary Mycobacterium abscessus: A canary in the cystic fibrosis coalmine |
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