X linked lymphoproliferative disease in a United Kingdom family
X linked lymphoproliferative disease (XLP; Duncan’s disease) is a rare disorder affecting boys and characterised by a defective immune response to Epstein- Barr virus caused by a mutation in a gene located at chromosome Xq25. Three siblings with XLP in a single UK family are reported and the variati...
Gespeichert in:
| Veröffentlicht in: | Archives of disease in childhood 1998-07, Vol.79 (1), p.52-55 |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 55 |
|---|---|
| container_issue | 1 |
| container_start_page | 52 |
| container_title | Archives of disease in childhood |
| container_volume | 79 |
| creator | Arkwright, Peter D Makin, Guy Will, Andrew M Ayres, Michelle Gokhale, David A Fergusson, William D Taylor, G Malcolm |
| description | X linked lymphoproliferative disease (XLP; Duncan’s disease) is a rare disorder affecting boys and characterised by a defective immune response to Epstein- Barr virus caused by a mutation in a gene located at chromosome Xq25. Three siblings with XLP in a single UK family are reported and the variation in phenotypic expression of the disease in these siblings described. One of the siblings with life threatening fulminant infectious mononucleosis was successfully treated by chemotherapy, followed by bone marrow transplantation using an unaffected brother as the donor. A healthy baby boy recently born into the family was identified as carrying the defective maternal X chromosome using molecular genetic linkage analysis. This family illustrates the extent of present understanding of this often fatal condition. |
| doi_str_mv | 10.1136/adc.79.1.52 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1717619</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>4009127501</sourcerecordid><originalsourceid>FETCH-LOGICAL-b502t-62a13108d9da8d31feeda62c3c5bd9145f6eab3ba34c4f4842700894991c1d563</originalsourceid><addsrcrecordid>eNp9kUuLFDEUhYMo4zi6ci0UKG6k2ty8s1Gk8T0oAzPiLtxKUjPpqUebVA_2v7e0m_axcHUX5-PjXA4hD4EuALh6jsEvtF3AQrJb5BiEMjWjQtwmx5RSXltjzF1yr5QVpcCM4UfkyGoNTPJj8vJr1aXhOoaq2_brq3Gdxy61MeOUbmIVUolYYpWGCquLIU0z9zENl2Hsqxb71G3vkzstdiU-2N8TcvHm9fnyXX36-e375avTupGUTbViCByoCTagCRzaGAMq5rmXTbAgZKsiNrxBLrxohRFMU2qssBY8BKn4CXmx8643TR-Dj8OUsXPrnHrMWzdicn8nQ7pyl-ONAw1agZ0FT_eCPH7bxDK5PhUfuw6HOG6KU9ZKqxSfwcf_gKtxk4f5udmlDTXS_tI921E-j6Xk2B6qAHU_V3HzKk5bB06ymX70Z_sDu59hzp_scyweuzbj4FM5YIwzra2YsXqHpTLF74cY87VTmmvpPn1ZurPzsw-GGXDs989Nv_pvvx-zSq_5</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1778085919</pqid></control><display><type>article</type><title>X linked lymphoproliferative disease in a United Kingdom family</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><source>Alma/SFX Local Collection</source><creator>Arkwright, Peter D ; Makin, Guy ; Will, Andrew M ; Ayres, Michelle ; Gokhale, David A ; Fergusson, William D ; Taylor, G Malcolm</creator><creatorcontrib>Arkwright, Peter D ; Makin, Guy ; Will, Andrew M ; Ayres, Michelle ; Gokhale, David A ; Fergusson, William D ; Taylor, G Malcolm</creatorcontrib><description>X linked lymphoproliferative disease (XLP; Duncan’s disease) is a rare disorder affecting boys and characterised by a defective immune response to Epstein- Barr virus caused by a mutation in a gene located at chromosome Xq25. Three siblings with XLP in a single UK family are reported and the variation in phenotypic expression of the disease in these siblings described. One of the siblings with life threatening fulminant infectious mononucleosis was successfully treated by chemotherapy, followed by bone marrow transplantation using an unaffected brother as the donor. A healthy baby boy recently born into the family was identified as carrying the defective maternal X chromosome using molecular genetic linkage analysis. This family illustrates the extent of present understanding of this often fatal condition.</description><identifier>ISSN: 0003-9888</identifier><identifier>EISSN: 1468-2044</identifier><identifier>DOI: 10.1136/adc.79.1.52</identifier><identifier>PMID: 9771253</identifier><identifier>CODEN: ADCHAK</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><subject>Age ; Biological and medical sciences ; Bone marrow ; Bone Marrow Transplantation ; Chemotherapy ; Child ; Children & youth ; Chromosome Mapping ; Chromosomes ; Colleges & universities ; Cytotoxicity ; Death ; Disease ; Disease Susceptibility ; Epstein-Barr virus ; Families & family life ; Family (Sociological Unit) ; Female ; Genetic Markers ; Genotype & phenotype ; Hematologic and hematopoietic diseases ; Hepatitis ; Herpesvirus 4, Human ; Hospitals ; Humans ; Immune response ; Immunoglobulins ; Infant ; Infections ; Infectious Mononucleosis - genetics ; Infectious Mononucleosis - therapy ; Laboratories ; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis ; Lymphocytes ; Lymphoproliferative Disorders - genetics ; Lymphoproliferative Disorders - therapy ; Lymphoproliferative Disorders - virology ; Male ; Males ; Medical prognosis ; Medical sciences ; Original ; Pedigree ; Pregnancy ; restriction fragment length polymorphism ; Siblings ; Transplants & implants ; X linked lymphoproliferative disease</subject><ispartof>Archives of disease in childhood, 1998-07, Vol.79 (1), p.52-55</ispartof><rights>Royal College of Paediatrics and Child Health</rights><rights>1998 INIST-CNRS</rights><rights>Copyright: 1998 Royal College of Paediatrics and Child Health</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b502t-62a13108d9da8d31feeda62c3c5bd9145f6eab3ba34c4f4842700894991c1d563</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1717619/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1717619/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,724,777,781,882,27905,27906,53772,53774</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2327794$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9771253$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Arkwright, Peter D</creatorcontrib><creatorcontrib>Makin, Guy</creatorcontrib><creatorcontrib>Will, Andrew M</creatorcontrib><creatorcontrib>Ayres, Michelle</creatorcontrib><creatorcontrib>Gokhale, David A</creatorcontrib><creatorcontrib>Fergusson, William D</creatorcontrib><creatorcontrib>Taylor, G Malcolm</creatorcontrib><title>X linked lymphoproliferative disease in a United Kingdom family</title><title>Archives of disease in childhood</title><addtitle>Arch Dis Child</addtitle><description>X linked lymphoproliferative disease (XLP; Duncan’s disease) is a rare disorder affecting boys and characterised by a defective immune response to Epstein- Barr virus caused by a mutation in a gene located at chromosome Xq25. Three siblings with XLP in a single UK family are reported and the variation in phenotypic expression of the disease in these siblings described. One of the siblings with life threatening fulminant infectious mononucleosis was successfully treated by chemotherapy, followed by bone marrow transplantation using an unaffected brother as the donor. A healthy baby boy recently born into the family was identified as carrying the defective maternal X chromosome using molecular genetic linkage analysis. This family illustrates the extent of present understanding of this often fatal condition.</description><subject>Age</subject><subject>Biological and medical sciences</subject><subject>Bone marrow</subject><subject>Bone Marrow Transplantation</subject><subject>Chemotherapy</subject><subject>Child</subject><subject>Children & youth</subject><subject>Chromosome Mapping</subject><subject>Chromosomes</subject><subject>Colleges & universities</subject><subject>Cytotoxicity</subject><subject>Death</subject><subject>Disease</subject><subject>Disease Susceptibility</subject><subject>Epstein-Barr virus</subject><subject>Families & family life</subject><subject>Family (Sociological Unit)</subject><subject>Female</subject><subject>Genetic Markers</subject><subject>Genotype & phenotype</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hepatitis</subject><subject>Herpesvirus 4, Human</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Immune response</subject><subject>Immunoglobulins</subject><subject>Infant</subject><subject>Infections</subject><subject>Infectious Mononucleosis - genetics</subject><subject>Infectious Mononucleosis - therapy</subject><subject>Laboratories</subject><subject>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</subject><subject>Lymphocytes</subject><subject>Lymphoproliferative Disorders - genetics</subject><subject>Lymphoproliferative Disorders - therapy</subject><subject>Lymphoproliferative Disorders - virology</subject><subject>Male</subject><subject>Males</subject><subject>Medical prognosis</subject><subject>Medical sciences</subject><subject>Original</subject><subject>Pedigree</subject><subject>Pregnancy</subject><subject>restriction fragment length polymorphism</subject><subject>Siblings</subject><subject>Transplants & implants</subject><subject>X linked lymphoproliferative disease</subject><issn>0003-9888</issn><issn>1468-2044</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</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>eNp9kUuLFDEUhYMo4zi6ci0UKG6k2ty8s1Gk8T0oAzPiLtxKUjPpqUebVA_2v7e0m_axcHUX5-PjXA4hD4EuALh6jsEvtF3AQrJb5BiEMjWjQtwmx5RSXltjzF1yr5QVpcCM4UfkyGoNTPJj8vJr1aXhOoaq2_brq3Gdxy61MeOUbmIVUolYYpWGCquLIU0z9zENl2Hsqxb71G3vkzstdiU-2N8TcvHm9fnyXX36-e375avTupGUTbViCByoCTagCRzaGAMq5rmXTbAgZKsiNrxBLrxohRFMU2qssBY8BKn4CXmx8643TR-Dj8OUsXPrnHrMWzdicn8nQ7pyl-ONAw1agZ0FT_eCPH7bxDK5PhUfuw6HOG6KU9ZKqxSfwcf_gKtxk4f5udmlDTXS_tI921E-j6Xk2B6qAHU_V3HzKk5bB06ymX70Z_sDu59hzp_scyweuzbj4FM5YIwzra2YsXqHpTLF74cY87VTmmvpPn1ZurPzsw-GGXDs989Nv_pvvx-zSq_5</recordid><startdate>19980701</startdate><enddate>19980701</enddate><creator>Arkwright, Peter D</creator><creator>Makin, Guy</creator><creator>Will, Andrew M</creator><creator>Ayres, Michelle</creator><creator>Gokhale, David A</creator><creator>Fergusson, William D</creator><creator>Taylor, G Malcolm</creator><general>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</general><scope>BSCLL</scope><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>0-V</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88B</scope><scope>88E</scope><scope>88I</scope><scope>8A4</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ALSLI</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>CJNVE</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9-</scope><scope>K9.</scope><scope>LK8</scope><scope>M0P</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEDU</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19980701</creationdate><title>X linked lymphoproliferative disease in a United Kingdom family</title><author>Arkwright, Peter D ; Makin, Guy ; Will, Andrew M ; Ayres, Michelle ; Gokhale, David A ; Fergusson, William D ; Taylor, G Malcolm</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b502t-62a13108d9da8d31feeda62c3c5bd9145f6eab3ba34c4f4842700894991c1d563</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Age</topic><topic>Biological and medical sciences</topic><topic>Bone marrow</topic><topic>Bone Marrow Transplantation</topic><topic>Chemotherapy</topic><topic>Child</topic><topic>Children & youth</topic><topic>Chromosome Mapping</topic><topic>Chromosomes</topic><topic>Colleges & universities</topic><topic>Cytotoxicity</topic><topic>Death</topic><topic>Disease</topic><topic>Disease Susceptibility</topic><topic>Epstein-Barr virus</topic><topic>Families & family life</topic><topic>Family (Sociological Unit)</topic><topic>Female</topic><topic>Genetic Markers</topic><topic>Genotype & phenotype</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hepatitis</topic><topic>Herpesvirus 4, Human</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Immune response</topic><topic>Immunoglobulins</topic><topic>Infant</topic><topic>Infections</topic><topic>Infectious Mononucleosis - genetics</topic><topic>Infectious Mononucleosis - therapy</topic><topic>Laboratories</topic><topic>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</topic><topic>Lymphocytes</topic><topic>Lymphoproliferative Disorders - genetics</topic><topic>Lymphoproliferative Disorders - therapy</topic><topic>Lymphoproliferative Disorders - virology</topic><topic>Male</topic><topic>Males</topic><topic>Medical prognosis</topic><topic>Medical sciences</topic><topic>Original</topic><topic>Pedigree</topic><topic>Pregnancy</topic><topic>restriction fragment length polymorphism</topic><topic>Siblings</topic><topic>Transplants & implants</topic><topic>X linked lymphoproliferative disease</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Arkwright, Peter D</creatorcontrib><creatorcontrib>Makin, Guy</creatorcontrib><creatorcontrib>Will, Andrew M</creatorcontrib><creatorcontrib>Ayres, Michelle</creatorcontrib><creatorcontrib>Gokhale, David A</creatorcontrib><creatorcontrib>Fergusson, William D</creatorcontrib><creatorcontrib>Taylor, G Malcolm</creatorcontrib><collection>Istex</collection><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>ProQuest Social Sciences Premium Collection</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Education Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>Education Periodicals</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 Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>Social Science Premium Collection</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>Education Collection</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Education Database</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Education</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 Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Archives of disease in childhood</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Arkwright, Peter D</au><au>Makin, Guy</au><au>Will, Andrew M</au><au>Ayres, Michelle</au><au>Gokhale, David A</au><au>Fergusson, William D</au><au>Taylor, G Malcolm</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>X linked lymphoproliferative disease in a United Kingdom family</atitle><jtitle>Archives of disease in childhood</jtitle><addtitle>Arch Dis Child</addtitle><date>1998-07-01</date><risdate>1998</risdate><volume>79</volume><issue>1</issue><spage>52</spage><epage>55</epage><pages>52-55</pages><issn>0003-9888</issn><eissn>1468-2044</eissn><coden>ADCHAK</coden><abstract>X linked lymphoproliferative disease (XLP; Duncan’s disease) is a rare disorder affecting boys and characterised by a defective immune response to Epstein- Barr virus caused by a mutation in a gene located at chromosome Xq25. Three siblings with XLP in a single UK family are reported and the variation in phenotypic expression of the disease in these siblings described. One of the siblings with life threatening fulminant infectious mononucleosis was successfully treated by chemotherapy, followed by bone marrow transplantation using an unaffected brother as the donor. A healthy baby boy recently born into the family was identified as carrying the defective maternal X chromosome using molecular genetic linkage analysis. This family illustrates the extent of present understanding of this often fatal condition.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</pub><pmid>9771253</pmid><doi>10.1136/adc.79.1.52</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0003-9888 |
| ispartof | Archives of disease in childhood, 1998-07, Vol.79 (1), p.52-55 |
| issn | 0003-9888 1468-2044 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1717619 |
| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Age Biological and medical sciences Bone marrow Bone Marrow Transplantation Chemotherapy Child Children & youth Chromosome Mapping Chromosomes Colleges & universities Cytotoxicity Death Disease Disease Susceptibility Epstein-Barr virus Families & family life Family (Sociological Unit) Female Genetic Markers Genotype & phenotype Hematologic and hematopoietic diseases Hepatitis Herpesvirus 4, Human Hospitals Humans Immune response Immunoglobulins Infant Infections Infectious Mononucleosis - genetics Infectious Mononucleosis - therapy Laboratories Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis Lymphocytes Lymphoproliferative Disorders - genetics Lymphoproliferative Disorders - therapy Lymphoproliferative Disorders - virology Male Males Medical prognosis Medical sciences Original Pedigree Pregnancy restriction fragment length polymorphism Siblings Transplants & implants X linked lymphoproliferative disease |
| title | X linked lymphoproliferative disease in a United Kingdom family |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-20T05%3A47%3A43IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=X%20linked%20lymphoproliferative%20disease%20in%20a%20United%20Kingdom%20family&rft.jtitle=Archives%20of%20disease%20in%20childhood&rft.au=Arkwright,%20Peter%20D&rft.date=1998-07-01&rft.volume=79&rft.issue=1&rft.spage=52&rft.epage=55&rft.pages=52-55&rft.issn=0003-9888&rft.eissn=1468-2044&rft.coden=ADCHAK&rft_id=info:doi/10.1136/adc.79.1.52&rft_dat=%3Cproquest_pubme%3E4009127501%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1778085919&rft_id=info:pmid/9771253&rfr_iscdi=true |