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Epstein-Barr virus-associated B-cell lymphoproliferative disorder meeting the definition of CAEBV B cell disease: a case report
Chronic active Epstein-Barr virus infection (CAEBV) is a systemic EBV-positive lymphoproliferative disorder (EBV-LPD) considered to be associated with a genetic immunological abnormality, although its cause is still unclear. EBV is usually detected in T cells or NK cells in CAEBV patients with only...
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Published in: | BMC infectious diseases 2023-07, Vol.23 (1), p.453-453, Article 453 |
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description | Chronic active Epstein-Barr virus infection (CAEBV) is a systemic EBV-positive lymphoproliferative disorder (EBV-LPD) considered to be associated with a genetic immunological abnormality, although its cause is still unclear. EBV is usually detected in T cells or NK cells in CAEBV patients with only a few cases involving B cells described in East Asia, which may be due to differences in genetic and environmental factors.
A 16-year-old boy who seemed to be diagnosed as CAEBV of B cell type was studied. The patient had IM-like symptoms persisting for more than 3 months, high levels of EBV DNA in the PB, and positive EBER in situ hybridization in B cells. In addition, to exclude underlying genetic disorders, we performed next-generation sequencing (NGS) and whole-exome sequencing (WES), which identified the missense mutation in PIK3CD (E1021K), ADA (S85L) and CD3D (Q140K) in the patient while no same genetic mutation was detected in his parents and sister. However, there is no diagnosis of CAEBV of B cell type in the most recent World Health Organization classification of tumors of hematopoietic and lymphoid tissues, therefore we finally diagnosed this patient as EBV-B-LPD.
This study shows a rare case of a patient meeting the definition of CAEBV B-cell disease in East Asia. Meanwhile, the case indicates that the missense mutation and the disease are related. |
doi_str_mv | 10.1186/s12879-023-08430-6 |
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A 16-year-old boy who seemed to be diagnosed as CAEBV of B cell type was studied. The patient had IM-like symptoms persisting for more than 3 months, high levels of EBV DNA in the PB, and positive EBER in situ hybridization in B cells. In addition, to exclude underlying genetic disorders, we performed next-generation sequencing (NGS) and whole-exome sequencing (WES), which identified the missense mutation in PIK3CD (E1021K), ADA (S85L) and CD3D (Q140K) in the patient while no same genetic mutation was detected in his parents and sister. However, there is no diagnosis of CAEBV of B cell type in the most recent World Health Organization classification of tumors of hematopoietic and lymphoid tissues, therefore we finally diagnosed this patient as EBV-B-LPD.
This study shows a rare case of a patient meeting the definition of CAEBV B-cell disease in East Asia. Meanwhile, the case indicates that the missense mutation and the disease are related.</description><identifier>ISSN: 1471-2334</identifier><identifier>EISSN: 1471-2334</identifier><identifier>DOI: 10.1186/s12879-023-08430-6</identifier><identifier>PMID: 37420238</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>B cell ; Biopsy ; Bone marrow ; Care and treatment ; Case Report ; Case reports ; Causes of ; Chronic active Epstein-Barr virus infection ; Chronic infection ; Complications and side effects ; Diagnosis ; Disease ; Environmental factors ; Epstein-Barr virus ; Epstein-Barr virus diseases ; Families & family life ; Genetic disorders ; Hospitals ; Hybridization ; Immune system ; Immunology ; Infections ; Infectious diseases ; Kinases ; Lymphatic diseases ; Lymphatic system ; Lymphocytes ; Lymphocytes B ; Lymphocytes T ; Lymphoid tissue ; Lymphoproliferative disorder ; Lymphoproliferative disorders ; Missense mutation ; Mononucleosis ; Mutation ; Next-generation sequencing ; Patients ; PIK3CD ; Signs and symptoms ; Stem cell transplantation ; T cell receptors ; Tumors ; Viruses</subject><ispartof>BMC infectious diseases, 2023-07, Vol.23 (1), p.453-453, Article 453</ispartof><rights>2023. The Author(s).</rights><rights>COPYRIGHT 2023 BioMed Central Ltd.</rights><rights>2023. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>The Author(s) 2023</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c583t-49e7025c0452e0829582b5ea4cc55cf31127975e56db35bd57500c99702e53513</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329294/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2838758426?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25753,27924,27925,37012,37013,44590,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37420238$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ma, Yaxian</creatorcontrib><creatorcontrib>Bao, Yuhan</creatorcontrib><creatorcontrib>Zheng, Miao</creatorcontrib><title>Epstein-Barr virus-associated B-cell lymphoproliferative disorder meeting the definition of CAEBV B cell disease: a case report</title><title>BMC infectious diseases</title><addtitle>BMC Infect Dis</addtitle><description>Chronic active Epstein-Barr virus infection (CAEBV) is a systemic EBV-positive lymphoproliferative disorder (EBV-LPD) considered to be associated with a genetic immunological abnormality, although its cause is still unclear. EBV is usually detected in T cells or NK cells in CAEBV patients with only a few cases involving B cells described in East Asia, which may be due to differences in genetic and environmental factors.
A 16-year-old boy who seemed to be diagnosed as CAEBV of B cell type was studied. The patient had IM-like symptoms persisting for more than 3 months, high levels of EBV DNA in the PB, and positive EBER in situ hybridization in B cells. In addition, to exclude underlying genetic disorders, we performed next-generation sequencing (NGS) and whole-exome sequencing (WES), which identified the missense mutation in PIK3CD (E1021K), ADA (S85L) and CD3D (Q140K) in the patient while no same genetic mutation was detected in his parents and sister. However, there is no diagnosis of CAEBV of B cell type in the most recent World Health Organization classification of tumors of hematopoietic and lymphoid tissues, therefore we finally diagnosed this patient as EBV-B-LPD.
This study shows a rare case of a patient meeting the definition of CAEBV B-cell disease in East Asia. Meanwhile, the case indicates that the missense mutation and the disease are related.</description><subject>B cell</subject><subject>Biopsy</subject><subject>Bone marrow</subject><subject>Care and treatment</subject><subject>Case Report</subject><subject>Case reports</subject><subject>Causes of</subject><subject>Chronic active Epstein-Barr virus infection</subject><subject>Chronic infection</subject><subject>Complications and side effects</subject><subject>Diagnosis</subject><subject>Disease</subject><subject>Environmental factors</subject><subject>Epstein-Barr virus</subject><subject>Epstein-Barr virus diseases</subject><subject>Families & family life</subject><subject>Genetic disorders</subject><subject>Hospitals</subject><subject>Hybridization</subject><subject>Immune system</subject><subject>Immunology</subject><subject>Infections</subject><subject>Infectious diseases</subject><subject>Kinases</subject><subject>Lymphatic diseases</subject><subject>Lymphatic system</subject><subject>Lymphocytes</subject><subject>Lymphocytes B</subject><subject>Lymphocytes T</subject><subject>Lymphoid tissue</subject><subject>Lymphoproliferative disorder</subject><subject>Lymphoproliferative disorders</subject><subject>Missense mutation</subject><subject>Mononucleosis</subject><subject>Mutation</subject><subject>Next-generation sequencing</subject><subject>Patients</subject><subject>PIK3CD</subject><subject>Signs and symptoms</subject><subject>Stem cell transplantation</subject><subject>T cell receptors</subject><subject>Tumors</subject><subject>Viruses</subject><issn>1471-2334</issn><issn>1471-2334</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNqNkktv1DAUhSMEoqXwB1ggS2xgkeJHHMds0Ew1wEiVKvHo1vI4NzMeJXFqOyO64q_jzJTSQSyQF7auv3Ose32y7CXB54RU5btAaCVkjinLcVUwnJePslNSCJJTxorHD84n2bMQthgTUVH5NDthoqBJVp1mPxdDiGD7fK69Rzvrx5DrEJyxOkKN5rmBtkXtbTds3OBdaxvwOtodoNoG52vwqAOItl-juElFaGxvo3U9cg26mC3m12iO9h6JBx3gPdLIpB15GJyPz7MnjW4DvLjbz7LvHxffLj7nl1eflhezy9zwisW8kCAw5QYXnAJOTfCKrjjowhjOTcMIoUIKDrysV4yvai44xkbKJALOOGFn2fLgWzu9VYO3nfa3ymmr9gXn10r7aE0LqpEMk1LLqgIosKwlL2q2MpyRWpScTl4fDl7DuOqgNtBHr9sj0-Ob3m7U2u0UwYxKKovk8ObOwbubEUJUnQ3TlHQPbgyKVoxTURV0Ql__hW7d6Ps0q4mqBE9U-Yda69SB7RuXHjaTqZoJXjIpS4kTdf4PKq0aOmtcnz4v1Y8Eb48EiYnwI671GIJafv3y_-zV9TFLD6zxLgQPzf3wCFZTttUh2yqFVO2zraYeXz0c-73kd5jZL4538IM</recordid><startdate>20230707</startdate><enddate>20230707</enddate><creator>Ma, Yaxian</creator><creator>Bao, Yuhan</creator><creator>Zheng, Miao</creator><general>BioMed Central Ltd</general><general>BioMed Central</general><general>BMC</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QL</scope><scope>7T2</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8C1</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20230707</creationdate><title>Epstein-Barr virus-associated B-cell lymphoproliferative disorder meeting the definition of CAEBV B cell disease: a case report</title><author>Ma, Yaxian ; Bao, Yuhan ; Zheng, Miao</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c583t-49e7025c0452e0829582b5ea4cc55cf31127975e56db35bd57500c99702e53513</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>B cell</topic><topic>Biopsy</topic><topic>Bone marrow</topic><topic>Care and treatment</topic><topic>Case Report</topic><topic>Case reports</topic><topic>Causes of</topic><topic>Chronic active Epstein-Barr virus infection</topic><topic>Chronic infection</topic><topic>Complications and side effects</topic><topic>Diagnosis</topic><topic>Disease</topic><topic>Environmental factors</topic><topic>Epstein-Barr virus</topic><topic>Epstein-Barr virus diseases</topic><topic>Families & family life</topic><topic>Genetic disorders</topic><topic>Hospitals</topic><topic>Hybridization</topic><topic>Immune system</topic><topic>Immunology</topic><topic>Infections</topic><topic>Infectious diseases</topic><topic>Kinases</topic><topic>Lymphatic diseases</topic><topic>Lymphatic system</topic><topic>Lymphocytes</topic><topic>Lymphocytes B</topic><topic>Lymphocytes T</topic><topic>Lymphoid tissue</topic><topic>Lymphoproliferative disorder</topic><topic>Lymphoproliferative disorders</topic><topic>Missense mutation</topic><topic>Mononucleosis</topic><topic>Mutation</topic><topic>Next-generation sequencing</topic><topic>Patients</topic><topic>PIK3CD</topic><topic>Signs and symptoms</topic><topic>Stem cell transplantation</topic><topic>T cell receptors</topic><topic>Tumors</topic><topic>Viruses</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ma, Yaxian</creatorcontrib><creatorcontrib>Bao, Yuhan</creatorcontrib><creatorcontrib>Zheng, Miao</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Opposing Viewpoints Resource Center</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Health and Safety Science Abstracts (Full archive)</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Public Health Database</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</collection><collection>ProQuest Central Essentials</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Publicly Available Content (ProQuest)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>Directory of Open Access Journals</collection><jtitle>BMC infectious diseases</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ma, Yaxian</au><au>Bao, Yuhan</au><au>Zheng, Miao</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Epstein-Barr virus-associated B-cell lymphoproliferative disorder meeting the definition of CAEBV B cell disease: a case report</atitle><jtitle>BMC infectious diseases</jtitle><addtitle>BMC Infect Dis</addtitle><date>2023-07-07</date><risdate>2023</risdate><volume>23</volume><issue>1</issue><spage>453</spage><epage>453</epage><pages>453-453</pages><artnum>453</artnum><issn>1471-2334</issn><eissn>1471-2334</eissn><abstract>Chronic active Epstein-Barr virus infection (CAEBV) is a systemic EBV-positive lymphoproliferative disorder (EBV-LPD) considered to be associated with a genetic immunological abnormality, although its cause is still unclear. EBV is usually detected in T cells or NK cells in CAEBV patients with only a few cases involving B cells described in East Asia, which may be due to differences in genetic and environmental factors.
A 16-year-old boy who seemed to be diagnosed as CAEBV of B cell type was studied. The patient had IM-like symptoms persisting for more than 3 months, high levels of EBV DNA in the PB, and positive EBER in situ hybridization in B cells. In addition, to exclude underlying genetic disorders, we performed next-generation sequencing (NGS) and whole-exome sequencing (WES), which identified the missense mutation in PIK3CD (E1021K), ADA (S85L) and CD3D (Q140K) in the patient while no same genetic mutation was detected in his parents and sister. However, there is no diagnosis of CAEBV of B cell type in the most recent World Health Organization classification of tumors of hematopoietic and lymphoid tissues, therefore we finally diagnosed this patient as EBV-B-LPD.
This study shows a rare case of a patient meeting the definition of CAEBV B-cell disease in East Asia. Meanwhile, the case indicates that the missense mutation and the disease are related.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>37420238</pmid><doi>10.1186/s12879-023-08430-6</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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subjects | B cell Biopsy Bone marrow Care and treatment Case Report Case reports Causes of Chronic active Epstein-Barr virus infection Chronic infection Complications and side effects Diagnosis Disease Environmental factors Epstein-Barr virus Epstein-Barr virus diseases Families & family life Genetic disorders Hospitals Hybridization Immune system Immunology Infections Infectious diseases Kinases Lymphatic diseases Lymphatic system Lymphocytes Lymphocytes B Lymphocytes T Lymphoid tissue Lymphoproliferative disorder Lymphoproliferative disorders Missense mutation Mononucleosis Mutation Next-generation sequencing Patients PIK3CD Signs and symptoms Stem cell transplantation T cell receptors Tumors Viruses |
title | Epstein-Barr virus-associated B-cell lymphoproliferative disorder meeting the definition of CAEBV B cell disease: a case report |
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