Next generation sequencing revealed DNA ligase IV deficiency in a “developmentally normal” patient with massive brain Epstein–Barr virus-positive diffuse large B-cell lymphoma
Abstract Introduction Here we present an unusual case of DNA ligase IV deficiency syndrome without dysmorphic facial findings and microcephaly complicated with Epstein–Barr virus-associated large B-cell lymphoma with the right lung involvement and a massive brain tumor lesion in a two-year-old femal...
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| Veröffentlicht in: | Clinical immunology (Orlando, Fla.) Fla.), 2016-02, Vol.163, p.108-110 |
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| container_title | Clinical immunology (Orlando, Fla.) |
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| creator | Sharapova, Svetlana O Chang, Elizabeth Yenhui Guryanova, Irina E Proleskovskaya, Inna V Fedorova, Alina S Rutskaya, Elena A Aleinikova, Olga V |
| description | Abstract Introduction Here we present an unusual case of DNA ligase IV deficiency syndrome without dysmorphic facial findings and microcephaly complicated with Epstein–Barr virus-associated large B-cell lymphoma with the right lung involvement and a massive brain tumor lesion in a two-year-old female. Methods PID panel was used for sequencing 55 genes. Most genes have > 98% exon coverage including splicing sites. LIG4 gene has 100% exon and splicing site coverage. This was used in Ion Torrent PGM system, the library kit was made by Agilent with Haloplex technology. The sequence analysis software was Alamut, direct sequencing of LIG4 gene was performed after NGS results. Result We identified three heterozygous mutations in LIG4 gene c.2736 + 3delC and c.8 C > T (p.A3V) inherited from mother and c.26C > T (p.T9I) – from father after PID panel sequencing and some additional polymorphisms in ATM , NOD2 and NLRP3 genes. Conclusion This case broadens the clinical spectrum of DNA ligase IV deficiency. |
| doi_str_mv | 10.1016/j.clim.2016.01.002 |
| format | Article |
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Methods PID panel was used for sequencing 55 genes. Most genes have > 98% exon coverage including splicing sites. LIG4 gene has 100% exon and splicing site coverage. This was used in Ion Torrent PGM system, the library kit was made by Agilent with Haloplex technology. The sequence analysis software was Alamut, direct sequencing of LIG4 gene was performed after NGS results. Result We identified three heterozygous mutations in LIG4 gene c.2736 + 3delC and c.8 C > T (p.A3V) inherited from mother and c.26C > T (p.T9I) – from father after PID panel sequencing and some additional polymorphisms in ATM , NOD2 and NLRP3 genes. Conclusion This case broadens the clinical spectrum of DNA ligase IV deficiency.</description><identifier>ISSN: 1521-6616</identifier><identifier>EISSN: 1521-7035</identifier><identifier>DOI: 10.1016/j.clim.2016.01.002</identifier><identifier>PMID: 26774591</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Allergy and Immunology ; Brain Neoplasms - immunology ; Brain Neoplasms - virology ; Child, Preschool ; DNA Ligase ATP ; DNA Ligases - deficiency ; DNA Ligases - genetics ; Epstein-Barr Virus Infections - immunology ; Epstein–Barr virus-positive diffuse large B-cell lymphoma ; Female ; Herpesvirus 4, Human ; High-Throughput Nucleotide Sequencing ; Humans ; Immunologic Deficiency Syndromes - genetics ; Immunologic Deficiency Syndromes - immunology ; LIG4 mutation ; Lung Neoplasms - immunology ; Lung Neoplasms - virology ; Lymphoma, Large B-Cell, Diffuse - immunology ; Lymphoma, Large B-Cell, Diffuse - virology ; Mutation ; Neoplasms, Multiple Primary - immunology ; Neoplasms, Multiple Primary - virology ; Sequence Analysis, DNA</subject><ispartof>Clinical immunology (Orlando, Fla.), 2016-02, Vol.163, p.108-110</ispartof><rights>Elsevier Inc.</rights><rights>2016 Elsevier Inc.</rights><rights>Copyright © 2016 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c411t-9820cd678b5bc2e38981f752c1710db50dfbcb5a70203054ead5f218462d94413</citedby><cites>FETCH-LOGICAL-c411t-9820cd678b5bc2e38981f752c1710db50dfbcb5a70203054ead5f218462d94413</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.clim.2016.01.002$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26774591$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sharapova, Svetlana O</creatorcontrib><creatorcontrib>Chang, Elizabeth Yenhui</creatorcontrib><creatorcontrib>Guryanova, Irina E</creatorcontrib><creatorcontrib>Proleskovskaya, Inna V</creatorcontrib><creatorcontrib>Fedorova, Alina S</creatorcontrib><creatorcontrib>Rutskaya, Elena A</creatorcontrib><creatorcontrib>Aleinikova, Olga V</creatorcontrib><title>Next generation sequencing revealed DNA ligase IV deficiency in a “developmentally normal” patient with massive brain Epstein–Barr virus-positive diffuse large B-cell lymphoma</title><title>Clinical immunology (Orlando, Fla.)</title><addtitle>Clin Immunol</addtitle><description>Abstract Introduction Here we present an unusual case of DNA ligase IV deficiency syndrome without dysmorphic facial findings and microcephaly complicated with Epstein–Barr virus-associated large B-cell lymphoma with the right lung involvement and a massive brain tumor lesion in a two-year-old female. Methods PID panel was used for sequencing 55 genes. Most genes have > 98% exon coverage including splicing sites. LIG4 gene has 100% exon and splicing site coverage. This was used in Ion Torrent PGM system, the library kit was made by Agilent with Haloplex technology. The sequence analysis software was Alamut, direct sequencing of LIG4 gene was performed after NGS results. Result We identified three heterozygous mutations in LIG4 gene c.2736 + 3delC and c.8 C > T (p.A3V) inherited from mother and c.26C > T (p.T9I) – from father after PID panel sequencing and some additional polymorphisms in ATM , NOD2 and NLRP3 genes. Conclusion This case broadens the clinical spectrum of DNA ligase IV deficiency.</description><subject>Allergy and Immunology</subject><subject>Brain Neoplasms - immunology</subject><subject>Brain Neoplasms - virology</subject><subject>Child, Preschool</subject><subject>DNA Ligase ATP</subject><subject>DNA Ligases - deficiency</subject><subject>DNA Ligases - genetics</subject><subject>Epstein-Barr Virus Infections - immunology</subject><subject>Epstein–Barr virus-positive diffuse large B-cell lymphoma</subject><subject>Female</subject><subject>Herpesvirus 4, Human</subject><subject>High-Throughput Nucleotide Sequencing</subject><subject>Humans</subject><subject>Immunologic Deficiency Syndromes - genetics</subject><subject>Immunologic Deficiency Syndromes - immunology</subject><subject>LIG4 mutation</subject><subject>Lung Neoplasms - immunology</subject><subject>Lung Neoplasms - virology</subject><subject>Lymphoma, Large B-Cell, Diffuse - immunology</subject><subject>Lymphoma, Large B-Cell, Diffuse - virology</subject><subject>Mutation</subject><subject>Neoplasms, Multiple Primary - immunology</subject><subject>Neoplasms, Multiple Primary - virology</subject><subject>Sequence Analysis, DNA</subject><issn>1521-6616</issn><issn>1521-7035</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9ks1u1DAUhSMEoqXwAiyQl2wSbCd2EgkhtaVApaos-BE7y7Fvph4cJ7WTgezmHdjCY_BC8yQ4zMCCBStfWd85vr7nJsljgjOCCX-2zpQ1XUZjnWGSYUzvJMeEUZKWOGd3DzXnhB8lD0JYY4wZpfx-ckR5WRasJsfJz2v4OqIVOPByNL1DAW4ncMq4FfKwAWlBo5fXp8ialQyALj8iDa1RJjIzMg5JtNt-15G0_dCBG6W1M3K976TdbX-gIbrGW_TFjDeokyGYDaDGy6i8GMIIxu22386k92hj_BTSoQ9mXBht2naKD1rpV4DOUgXWIjt3w03fyYfJvVbaAI8O50ny4dXF-_M36dXb15fnp1epKggZ07qiWGleVg1rFIW8qivSlowqUhKsG4Z126iGyRJTnGNWgNSspaQqONV1UZD8JHm69x18H8cSRtGZsHQiHfRTEKTkFSvrktcRpXtU-T4ED60YvOmknwXBYolLrMUSl1jiEpiIGFcUPTn4T00H-q_kTz4ReL4HIP5yY8CL8Hv0oI0HNQrdm__7v_hHHhFnlLSfYYaw7ifv4vwEEYEKLN4tC7PsC-F5XBb6Kf8FtFjBZQ</recordid><startdate>20160201</startdate><enddate>20160201</enddate><creator>Sharapova, Svetlana O</creator><creator>Chang, Elizabeth Yenhui</creator><creator>Guryanova, Irina E</creator><creator>Proleskovskaya, Inna V</creator><creator>Fedorova, Alina S</creator><creator>Rutskaya, Elena A</creator><creator>Aleinikova, Olga V</creator><general>Elsevier Inc</general><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>7T5</scope><scope>7TM</scope><scope>7U9</scope><scope>H94</scope></search><sort><creationdate>20160201</creationdate><title>Next generation sequencing revealed DNA ligase IV deficiency in a “developmentally normal” patient with massive brain Epstein–Barr virus-positive diffuse large B-cell lymphoma</title><author>Sharapova, Svetlana O ; Chang, Elizabeth Yenhui ; Guryanova, Irina E ; Proleskovskaya, Inna V ; Fedorova, Alina S ; Rutskaya, Elena A ; Aleinikova, Olga V</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c411t-9820cd678b5bc2e38981f752c1710db50dfbcb5a70203054ead5f218462d94413</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Allergy and Immunology</topic><topic>Brain Neoplasms - immunology</topic><topic>Brain Neoplasms - virology</topic><topic>Child, Preschool</topic><topic>DNA Ligase ATP</topic><topic>DNA Ligases - deficiency</topic><topic>DNA Ligases - genetics</topic><topic>Epstein-Barr Virus Infections - immunology</topic><topic>Epstein–Barr virus-positive diffuse large B-cell lymphoma</topic><topic>Female</topic><topic>Herpesvirus 4, Human</topic><topic>High-Throughput Nucleotide Sequencing</topic><topic>Humans</topic><topic>Immunologic Deficiency Syndromes - genetics</topic><topic>Immunologic Deficiency Syndromes - immunology</topic><topic>LIG4 mutation</topic><topic>Lung Neoplasms - immunology</topic><topic>Lung Neoplasms - virology</topic><topic>Lymphoma, Large B-Cell, Diffuse - immunology</topic><topic>Lymphoma, Large B-Cell, Diffuse - virology</topic><topic>Mutation</topic><topic>Neoplasms, Multiple Primary - immunology</topic><topic>Neoplasms, Multiple Primary - virology</topic><topic>Sequence Analysis, DNA</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sharapova, Svetlana O</creatorcontrib><creatorcontrib>Chang, Elizabeth Yenhui</creatorcontrib><creatorcontrib>Guryanova, Irina E</creatorcontrib><creatorcontrib>Proleskovskaya, Inna V</creatorcontrib><creatorcontrib>Fedorova, Alina S</creatorcontrib><creatorcontrib>Rutskaya, Elena A</creatorcontrib><creatorcontrib>Aleinikova, Olga V</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><jtitle>Clinical immunology (Orlando, Fla.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sharapova, Svetlana O</au><au>Chang, Elizabeth Yenhui</au><au>Guryanova, Irina E</au><au>Proleskovskaya, Inna V</au><au>Fedorova, Alina S</au><au>Rutskaya, Elena A</au><au>Aleinikova, Olga V</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Next generation sequencing revealed DNA ligase IV deficiency in a “developmentally normal” patient with massive brain Epstein–Barr virus-positive diffuse large B-cell lymphoma</atitle><jtitle>Clinical immunology (Orlando, Fla.)</jtitle><addtitle>Clin Immunol</addtitle><date>2016-02-01</date><risdate>2016</risdate><volume>163</volume><spage>108</spage><epage>110</epage><pages>108-110</pages><issn>1521-6616</issn><eissn>1521-7035</eissn><abstract>Abstract Introduction Here we present an unusual case of DNA ligase IV deficiency syndrome without dysmorphic facial findings and microcephaly complicated with Epstein–Barr virus-associated large B-cell lymphoma with the right lung involvement and a massive brain tumor lesion in a two-year-old female. Methods PID panel was used for sequencing 55 genes. Most genes have > 98% exon coverage including splicing sites. LIG4 gene has 100% exon and splicing site coverage. This was used in Ion Torrent PGM system, the library kit was made by Agilent with Haloplex technology. The sequence analysis software was Alamut, direct sequencing of LIG4 gene was performed after NGS results. Result We identified three heterozygous mutations in LIG4 gene c.2736 + 3delC and c.8 C > T (p.A3V) inherited from mother and c.26C > T (p.T9I) – from father after PID panel sequencing and some additional polymorphisms in ATM , NOD2 and NLRP3 genes. Conclusion This case broadens the clinical spectrum of DNA ligase IV deficiency.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>26774591</pmid><doi>10.1016/j.clim.2016.01.002</doi><tpages>3</tpages></addata></record> |
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| subjects | Allergy and Immunology Brain Neoplasms - immunology Brain Neoplasms - virology Child, Preschool DNA Ligase ATP DNA Ligases - deficiency DNA Ligases - genetics Epstein-Barr Virus Infections - immunology Epstein–Barr virus-positive diffuse large B-cell lymphoma Female Herpesvirus 4, Human High-Throughput Nucleotide Sequencing Humans Immunologic Deficiency Syndromes - genetics Immunologic Deficiency Syndromes - immunology LIG4 mutation Lung Neoplasms - immunology Lung Neoplasms - virology Lymphoma, Large B-Cell, Diffuse - immunology Lymphoma, Large B-Cell, Diffuse - virology Mutation Neoplasms, Multiple Primary - immunology Neoplasms, Multiple Primary - virology Sequence Analysis, DNA |
| title | Next generation sequencing revealed DNA ligase IV deficiency in a “developmentally normal” patient with massive brain Epstein–Barr virus-positive diffuse large B-cell lymphoma |
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