A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency
Monogenic interleukin-10 (IL-10) and IL-10 receptor (IL-10R) deficiencies cause very early onset severe inflammatory bowel disease. Here, we report that 5 patients with an IL-10R1 (n = 1) or IL-10R2 (n = 4) deficiency developed B-cell non-Hodgkin lymphoma between the ages of 5 and 6 years (which was...
Gespeichert in:
| Veröffentlicht in: | Blood 2013-11, Vol.122 (23), p.3713-3722 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 3722 |
|---|---|
| container_issue | 23 |
| container_start_page | 3713 |
| container_title | Blood |
| container_volume | 122 |
| creator | Neven, Bénédicte Mamessier, Emilie Bruneau, Julie Kaltenbach, Sophie Kotlarz, Daniel Suarez, Felipe Masliah-Planchon, Julien Billot, Katy Canioni, Danielle Frange, Pierre Radford-Weiss, Isabelle Asnafi, Vahid Murugan, Dhaarini Bole, Christine Nitschke, Patrick Goulet, Olivier Casanova, Jean-Laurent Blanche, Stéphane Picard, Capucine Hermine, Olivier Rieux-Laucat, Frederic Brousse, Nicole Davi, Frederic Baud, Véronique Klein, Christoph Nadel, Bertrand Ruemmele, Frank Fischer, Alain |
| description | Monogenic interleukin-10 (IL-10) and IL-10 receptor (IL-10R) deficiencies cause very early onset severe inflammatory bowel disease. Here, we report that 5 patients with an IL-10R1 (n = 1) or IL-10R2 (n = 4) deficiency developed B-cell non-Hodgkin lymphoma between the ages of 5 and 6 years (which was recurrent in 1 patient). These lymphomas had some of the characteristics of diffuse large B-cell lymphomas and contained monoclonal, Epstein-Barr virus–negative germinal center B cells. The tumors displayed a remarkably homogeneous signature, with original activation of the nuclear factor κB pathway and a decrease in intratumor T-cell infiltration. Hence, IL-10R deficiency is associated with a high risk of developing B-cell lymphoma. Our results revealed an unexpected role of the IL-10R pathway in lymphomagenesis.
•Human inherited IL-10 receptor deficiency is associated with a very high risk of non-EBV–related diffuse large B-cell lymphoma.•IL-10 signaling may be involved in the immune control of germinal center B-cell lymphoma. |
| doi_str_mv | 10.1182/blood-2013-06-508267 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_hal_p</sourceid><recordid>TN_cdi_hal_primary_oai_HAL_hal_01765647v1</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0006497120362960</els_id><sourcerecordid>1462762899</sourcerecordid><originalsourceid>FETCH-LOGICAL-c508t-905a96bebc5d064f1e150c8297400a4f4cdd804616ac75376d6ed9e713946c5a3</originalsourceid><addsrcrecordid>eNp9kEtv1DAQgC0EokvpP0DIR3owjB0_4gvSUpV2pUVIiJ4tx56oRkkc4myl_fdkm9JjTyPNfPP6CPnA4TPntfjSdDlHJoBXDDRTUAttXpENV6JmAAJekw3AUpHW8DPyrpQ_AFxWQr0lZ0JCbStRb8huS3_gELFLfqDjhDGVMZc0pzzQOdNvLGDX0e7Yj_e59zT4Q8FImyPd7RmHXzRim0LCIRzfkzet7wpePMVzcvf9-vfVLdv_vNldbfcsLDfOzILyVjfYBBVBy5YjVxBqYY0E8LKVIcYapObaB6Mqo6PGaNHwykodlK_OyeU69953bpxS76ejyz652-3enXLAjVZamge-sJ9Wdpzy3wOW2fWpnD7yA-ZDcVxqYbSorV1QuaJhyqVM2D7P5uBOwt2jcHcS7kC7VfjS9vFpw6HpMT43_Te8AF9XABcnDwknVx59LaYnDLOLOb284R9lko8N</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1462762899</pqid></control><display><type>article</type><title>A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>Alma/SFX Local Collection</source><creator>Neven, Bénédicte ; Mamessier, Emilie ; Bruneau, Julie ; Kaltenbach, Sophie ; Kotlarz, Daniel ; Suarez, Felipe ; Masliah-Planchon, Julien ; Billot, Katy ; Canioni, Danielle ; Frange, Pierre ; Radford-Weiss, Isabelle ; Asnafi, Vahid ; Murugan, Dhaarini ; Bole, Christine ; Nitschke, Patrick ; Goulet, Olivier ; Casanova, Jean-Laurent ; Blanche, Stéphane ; Picard, Capucine ; Hermine, Olivier ; Rieux-Laucat, Frederic ; Brousse, Nicole ; Davi, Frederic ; Baud, Véronique ; Klein, Christoph ; Nadel, Bertrand ; Ruemmele, Frank ; Fischer, Alain</creator><creatorcontrib>Neven, Bénédicte ; Mamessier, Emilie ; Bruneau, Julie ; Kaltenbach, Sophie ; Kotlarz, Daniel ; Suarez, Felipe ; Masliah-Planchon, Julien ; Billot, Katy ; Canioni, Danielle ; Frange, Pierre ; Radford-Weiss, Isabelle ; Asnafi, Vahid ; Murugan, Dhaarini ; Bole, Christine ; Nitschke, Patrick ; Goulet, Olivier ; Casanova, Jean-Laurent ; Blanche, Stéphane ; Picard, Capucine ; Hermine, Olivier ; Rieux-Laucat, Frederic ; Brousse, Nicole ; Davi, Frederic ; Baud, Véronique ; Klein, Christoph ; Nadel, Bertrand ; Ruemmele, Frank ; Fischer, Alain</creatorcontrib><description>Monogenic interleukin-10 (IL-10) and IL-10 receptor (IL-10R) deficiencies cause very early onset severe inflammatory bowel disease. Here, we report that 5 patients with an IL-10R1 (n = 1) or IL-10R2 (n = 4) deficiency developed B-cell non-Hodgkin lymphoma between the ages of 5 and 6 years (which was recurrent in 1 patient). These lymphomas had some of the characteristics of diffuse large B-cell lymphomas and contained monoclonal, Epstein-Barr virus–negative germinal center B cells. The tumors displayed a remarkably homogeneous signature, with original activation of the nuclear factor κB pathway and a decrease in intratumor T-cell infiltration. Hence, IL-10R deficiency is associated with a high risk of developing B-cell lymphoma. Our results revealed an unexpected role of the IL-10R pathway in lymphomagenesis.
•Human inherited IL-10 receptor deficiency is associated with a very high risk of non-EBV–related diffuse large B-cell lymphoma.•IL-10 signaling may be involved in the immune control of germinal center B-cell lymphoma.</description><identifier>ISSN: 0006-4971</identifier><identifier>EISSN: 1528-0020</identifier><identifier>DOI: 10.1182/blood-2013-06-508267</identifier><identifier>PMID: 24089328</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adolescent ; Age of Onset ; Cancer ; Child ; Child, Preschool ; Female ; Gene Expression Profiling ; Genes, rel ; Genetic Predisposition to Disease ; Germinal Center - immunology ; Germinal Center - pathology ; Humans ; Immunology ; Immunotherapy ; Inflammatory Bowel Diseases - complications ; Inflammatory Bowel Diseases - genetics ; Inflammatory Bowel Diseases - immunology ; Interleukin-10 - metabolism ; Interleukin-10 Receptor alpha Subunit - deficiency ; Interleukin-10 Receptor alpha Subunit - genetics ; Interleukin-10 Receptor beta Subunit - deficiency ; Interleukin-10 Receptor beta Subunit - genetics ; Life Sciences ; Lymphoma, B-Cell - etiology ; Lymphoma, B-Cell - genetics ; Lymphoma, B-Cell - immunology ; Lymphoma, Large B-Cell, Diffuse - etiology ; Lymphoma, Large B-Cell, Diffuse - genetics ; Lymphoma, Large B-Cell, Diffuse - immunology ; Male ; Mutation ; NF-kappa B - metabolism ; Pedigree ; Signal Transduction</subject><ispartof>Blood, 2013-11, Vol.122 (23), p.3713-3722</ispartof><rights>2013 American Society of Hematology</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c508t-905a96bebc5d064f1e150c8297400a4f4cdd804616ac75376d6ed9e713946c5a3</citedby><cites>FETCH-LOGICAL-c508t-905a96bebc5d064f1e150c8297400a4f4cdd804616ac75376d6ed9e713946c5a3</cites><orcidid>0000-0002-3516-0093 ; 0000-0003-2574-3874</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24089328$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-01765647$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Neven, Bénédicte</creatorcontrib><creatorcontrib>Mamessier, Emilie</creatorcontrib><creatorcontrib>Bruneau, Julie</creatorcontrib><creatorcontrib>Kaltenbach, Sophie</creatorcontrib><creatorcontrib>Kotlarz, Daniel</creatorcontrib><creatorcontrib>Suarez, Felipe</creatorcontrib><creatorcontrib>Masliah-Planchon, Julien</creatorcontrib><creatorcontrib>Billot, Katy</creatorcontrib><creatorcontrib>Canioni, Danielle</creatorcontrib><creatorcontrib>Frange, Pierre</creatorcontrib><creatorcontrib>Radford-Weiss, Isabelle</creatorcontrib><creatorcontrib>Asnafi, Vahid</creatorcontrib><creatorcontrib>Murugan, Dhaarini</creatorcontrib><creatorcontrib>Bole, Christine</creatorcontrib><creatorcontrib>Nitschke, Patrick</creatorcontrib><creatorcontrib>Goulet, Olivier</creatorcontrib><creatorcontrib>Casanova, Jean-Laurent</creatorcontrib><creatorcontrib>Blanche, Stéphane</creatorcontrib><creatorcontrib>Picard, Capucine</creatorcontrib><creatorcontrib>Hermine, Olivier</creatorcontrib><creatorcontrib>Rieux-Laucat, Frederic</creatorcontrib><creatorcontrib>Brousse, Nicole</creatorcontrib><creatorcontrib>Davi, Frederic</creatorcontrib><creatorcontrib>Baud, Véronique</creatorcontrib><creatorcontrib>Klein, Christoph</creatorcontrib><creatorcontrib>Nadel, Bertrand</creatorcontrib><creatorcontrib>Ruemmele, Frank</creatorcontrib><creatorcontrib>Fischer, Alain</creatorcontrib><title>A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency</title><title>Blood</title><addtitle>Blood</addtitle><description>Monogenic interleukin-10 (IL-10) and IL-10 receptor (IL-10R) deficiencies cause very early onset severe inflammatory bowel disease. Here, we report that 5 patients with an IL-10R1 (n = 1) or IL-10R2 (n = 4) deficiency developed B-cell non-Hodgkin lymphoma between the ages of 5 and 6 years (which was recurrent in 1 patient). These lymphomas had some of the characteristics of diffuse large B-cell lymphomas and contained monoclonal, Epstein-Barr virus–negative germinal center B cells. The tumors displayed a remarkably homogeneous signature, with original activation of the nuclear factor κB pathway and a decrease in intratumor T-cell infiltration. Hence, IL-10R deficiency is associated with a high risk of developing B-cell lymphoma. Our results revealed an unexpected role of the IL-10R pathway in lymphomagenesis.
•Human inherited IL-10 receptor deficiency is associated with a very high risk of non-EBV–related diffuse large B-cell lymphoma.•IL-10 signaling may be involved in the immune control of germinal center B-cell lymphoma.</description><subject>Adolescent</subject><subject>Age of Onset</subject><subject>Cancer</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Female</subject><subject>Gene Expression Profiling</subject><subject>Genes, rel</subject><subject>Genetic Predisposition to Disease</subject><subject>Germinal Center - immunology</subject><subject>Germinal Center - pathology</subject><subject>Humans</subject><subject>Immunology</subject><subject>Immunotherapy</subject><subject>Inflammatory Bowel Diseases - complications</subject><subject>Inflammatory Bowel Diseases - genetics</subject><subject>Inflammatory Bowel Diseases - immunology</subject><subject>Interleukin-10 - metabolism</subject><subject>Interleukin-10 Receptor alpha Subunit - deficiency</subject><subject>Interleukin-10 Receptor alpha Subunit - genetics</subject><subject>Interleukin-10 Receptor beta Subunit - deficiency</subject><subject>Interleukin-10 Receptor beta Subunit - genetics</subject><subject>Life Sciences</subject><subject>Lymphoma, B-Cell - etiology</subject><subject>Lymphoma, B-Cell - genetics</subject><subject>Lymphoma, B-Cell - immunology</subject><subject>Lymphoma, Large B-Cell, Diffuse - etiology</subject><subject>Lymphoma, Large B-Cell, Diffuse - genetics</subject><subject>Lymphoma, Large B-Cell, Diffuse - immunology</subject><subject>Male</subject><subject>Mutation</subject><subject>NF-kappa B - metabolism</subject><subject>Pedigree</subject><subject>Signal Transduction</subject><issn>0006-4971</issn><issn>1528-0020</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEtv1DAQgC0EokvpP0DIR3owjB0_4gvSUpV2pUVIiJ4tx56oRkkc4myl_fdkm9JjTyPNfPP6CPnA4TPntfjSdDlHJoBXDDRTUAttXpENV6JmAAJekw3AUpHW8DPyrpQ_AFxWQr0lZ0JCbStRb8huS3_gELFLfqDjhDGVMZc0pzzQOdNvLGDX0e7Yj_e59zT4Q8FImyPd7RmHXzRim0LCIRzfkzet7wpePMVzcvf9-vfVLdv_vNldbfcsLDfOzILyVjfYBBVBy5YjVxBqYY0E8LKVIcYapObaB6Mqo6PGaNHwykodlK_OyeU69953bpxS76ejyz652-3enXLAjVZamge-sJ9Wdpzy3wOW2fWpnD7yA-ZDcVxqYbSorV1QuaJhyqVM2D7P5uBOwt2jcHcS7kC7VfjS9vFpw6HpMT43_Te8AF9XABcnDwknVx59LaYnDLOLOb284R9lko8N</recordid><startdate>20131128</startdate><enddate>20131128</enddate><creator>Neven, Bénédicte</creator><creator>Mamessier, Emilie</creator><creator>Bruneau, Julie</creator><creator>Kaltenbach, Sophie</creator><creator>Kotlarz, Daniel</creator><creator>Suarez, Felipe</creator><creator>Masliah-Planchon, Julien</creator><creator>Billot, Katy</creator><creator>Canioni, Danielle</creator><creator>Frange, Pierre</creator><creator>Radford-Weiss, Isabelle</creator><creator>Asnafi, Vahid</creator><creator>Murugan, Dhaarini</creator><creator>Bole, Christine</creator><creator>Nitschke, Patrick</creator><creator>Goulet, Olivier</creator><creator>Casanova, Jean-Laurent</creator><creator>Blanche, Stéphane</creator><creator>Picard, Capucine</creator><creator>Hermine, Olivier</creator><creator>Rieux-Laucat, Frederic</creator><creator>Brousse, Nicole</creator><creator>Davi, Frederic</creator><creator>Baud, Véronique</creator><creator>Klein, Christoph</creator><creator>Nadel, Bertrand</creator><creator>Ruemmele, Frank</creator><creator>Fischer, Alain</creator><general>Elsevier Inc</general><general>American Society of Hematology</general><scope>6I.</scope><scope>AAFTH</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>1XC</scope><orcidid>https://orcid.org/0000-0002-3516-0093</orcidid><orcidid>https://orcid.org/0000-0003-2574-3874</orcidid></search><sort><creationdate>20131128</creationdate><title>A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency</title><author>Neven, Bénédicte ; Mamessier, Emilie ; Bruneau, Julie ; Kaltenbach, Sophie ; Kotlarz, Daniel ; Suarez, Felipe ; Masliah-Planchon, Julien ; Billot, Katy ; Canioni, Danielle ; Frange, Pierre ; Radford-Weiss, Isabelle ; Asnafi, Vahid ; Murugan, Dhaarini ; Bole, Christine ; Nitschke, Patrick ; Goulet, Olivier ; Casanova, Jean-Laurent ; Blanche, Stéphane ; Picard, Capucine ; Hermine, Olivier ; Rieux-Laucat, Frederic ; Brousse, Nicole ; Davi, Frederic ; Baud, Véronique ; Klein, Christoph ; Nadel, Bertrand ; Ruemmele, Frank ; Fischer, Alain</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c508t-905a96bebc5d064f1e150c8297400a4f4cdd804616ac75376d6ed9e713946c5a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adolescent</topic><topic>Age of Onset</topic><topic>Cancer</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Female</topic><topic>Gene Expression Profiling</topic><topic>Genes, rel</topic><topic>Genetic Predisposition to Disease</topic><topic>Germinal Center - immunology</topic><topic>Germinal Center - pathology</topic><topic>Humans</topic><topic>Immunology</topic><topic>Immunotherapy</topic><topic>Inflammatory Bowel Diseases - complications</topic><topic>Inflammatory Bowel Diseases - genetics</topic><topic>Inflammatory Bowel Diseases - immunology</topic><topic>Interleukin-10 - metabolism</topic><topic>Interleukin-10 Receptor alpha Subunit - deficiency</topic><topic>Interleukin-10 Receptor alpha Subunit - genetics</topic><topic>Interleukin-10 Receptor beta Subunit - deficiency</topic><topic>Interleukin-10 Receptor beta Subunit - genetics</topic><topic>Life Sciences</topic><topic>Lymphoma, B-Cell - etiology</topic><topic>Lymphoma, B-Cell - genetics</topic><topic>Lymphoma, B-Cell - immunology</topic><topic>Lymphoma, Large B-Cell, Diffuse - etiology</topic><topic>Lymphoma, Large B-Cell, Diffuse - genetics</topic><topic>Lymphoma, Large B-Cell, Diffuse - immunology</topic><topic>Male</topic><topic>Mutation</topic><topic>NF-kappa B - metabolism</topic><topic>Pedigree</topic><topic>Signal Transduction</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Neven, Bénédicte</creatorcontrib><creatorcontrib>Mamessier, Emilie</creatorcontrib><creatorcontrib>Bruneau, Julie</creatorcontrib><creatorcontrib>Kaltenbach, Sophie</creatorcontrib><creatorcontrib>Kotlarz, Daniel</creatorcontrib><creatorcontrib>Suarez, Felipe</creatorcontrib><creatorcontrib>Masliah-Planchon, Julien</creatorcontrib><creatorcontrib>Billot, Katy</creatorcontrib><creatorcontrib>Canioni, Danielle</creatorcontrib><creatorcontrib>Frange, Pierre</creatorcontrib><creatorcontrib>Radford-Weiss, Isabelle</creatorcontrib><creatorcontrib>Asnafi, Vahid</creatorcontrib><creatorcontrib>Murugan, Dhaarini</creatorcontrib><creatorcontrib>Bole, Christine</creatorcontrib><creatorcontrib>Nitschke, Patrick</creatorcontrib><creatorcontrib>Goulet, Olivier</creatorcontrib><creatorcontrib>Casanova, Jean-Laurent</creatorcontrib><creatorcontrib>Blanche, Stéphane</creatorcontrib><creatorcontrib>Picard, Capucine</creatorcontrib><creatorcontrib>Hermine, Olivier</creatorcontrib><creatorcontrib>Rieux-Laucat, Frederic</creatorcontrib><creatorcontrib>Brousse, Nicole</creatorcontrib><creatorcontrib>Davi, Frederic</creatorcontrib><creatorcontrib>Baud, Véronique</creatorcontrib><creatorcontrib>Klein, Christoph</creatorcontrib><creatorcontrib>Nadel, Bertrand</creatorcontrib><creatorcontrib>Ruemmele, Frank</creatorcontrib><creatorcontrib>Fischer, Alain</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</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>Hyper Article en Ligne (HAL)</collection><jtitle>Blood</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Neven, Bénédicte</au><au>Mamessier, Emilie</au><au>Bruneau, Julie</au><au>Kaltenbach, Sophie</au><au>Kotlarz, Daniel</au><au>Suarez, Felipe</au><au>Masliah-Planchon, Julien</au><au>Billot, Katy</au><au>Canioni, Danielle</au><au>Frange, Pierre</au><au>Radford-Weiss, Isabelle</au><au>Asnafi, Vahid</au><au>Murugan, Dhaarini</au><au>Bole, Christine</au><au>Nitschke, Patrick</au><au>Goulet, Olivier</au><au>Casanova, Jean-Laurent</au><au>Blanche, Stéphane</au><au>Picard, Capucine</au><au>Hermine, Olivier</au><au>Rieux-Laucat, Frederic</au><au>Brousse, Nicole</au><au>Davi, Frederic</au><au>Baud, Véronique</au><au>Klein, Christoph</au><au>Nadel, Bertrand</au><au>Ruemmele, Frank</au><au>Fischer, Alain</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency</atitle><jtitle>Blood</jtitle><addtitle>Blood</addtitle><date>2013-11-28</date><risdate>2013</risdate><volume>122</volume><issue>23</issue><spage>3713</spage><epage>3722</epage><pages>3713-3722</pages><issn>0006-4971</issn><eissn>1528-0020</eissn><abstract>Monogenic interleukin-10 (IL-10) and IL-10 receptor (IL-10R) deficiencies cause very early onset severe inflammatory bowel disease. Here, we report that 5 patients with an IL-10R1 (n = 1) or IL-10R2 (n = 4) deficiency developed B-cell non-Hodgkin lymphoma between the ages of 5 and 6 years (which was recurrent in 1 patient). These lymphomas had some of the characteristics of diffuse large B-cell lymphomas and contained monoclonal, Epstein-Barr virus–negative germinal center B cells. The tumors displayed a remarkably homogeneous signature, with original activation of the nuclear factor κB pathway and a decrease in intratumor T-cell infiltration. Hence, IL-10R deficiency is associated with a high risk of developing B-cell lymphoma. Our results revealed an unexpected role of the IL-10R pathway in lymphomagenesis.
•Human inherited IL-10 receptor deficiency is associated with a very high risk of non-EBV–related diffuse large B-cell lymphoma.•IL-10 signaling may be involved in the immune control of germinal center B-cell lymphoma.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>24089328</pmid><doi>10.1182/blood-2013-06-508267</doi><tpages>10</tpages><orcidid>https://orcid.org/0000-0002-3516-0093</orcidid><orcidid>https://orcid.org/0000-0003-2574-3874</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0006-4971 |
| ispartof | Blood, 2013-11, Vol.122 (23), p.3713-3722 |
| issn | 0006-4971 1528-0020 |
| language | eng |
| recordid | cdi_hal_primary_oai_HAL_hal_01765647v1 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Adolescent Age of Onset Cancer Child Child, Preschool Female Gene Expression Profiling Genes, rel Genetic Predisposition to Disease Germinal Center - immunology Germinal Center - pathology Humans Immunology Immunotherapy Inflammatory Bowel Diseases - complications Inflammatory Bowel Diseases - genetics Inflammatory Bowel Diseases - immunology Interleukin-10 - metabolism Interleukin-10 Receptor alpha Subunit - deficiency Interleukin-10 Receptor alpha Subunit - genetics Interleukin-10 Receptor beta Subunit - deficiency Interleukin-10 Receptor beta Subunit - genetics Life Sciences Lymphoma, B-Cell - etiology Lymphoma, B-Cell - genetics Lymphoma, B-Cell - immunology Lymphoma, Large B-Cell, Diffuse - etiology Lymphoma, Large B-Cell, Diffuse - genetics Lymphoma, Large B-Cell, Diffuse - immunology Male Mutation NF-kappa B - metabolism Pedigree Signal Transduction |
| title | A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-05T05%3A15%3A28IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_hal_p&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20Mendelian%20predisposition%20to%20B-cell%20lymphoma%20caused%20by%20IL-10R%20deficiency&rft.jtitle=Blood&rft.au=Neven,%20B%C3%A9n%C3%A9dicte&rft.date=2013-11-28&rft.volume=122&rft.issue=23&rft.spage=3713&rft.epage=3722&rft.pages=3713-3722&rft.issn=0006-4971&rft.eissn=1528-0020&rft_id=info:doi/10.1182/blood-2013-06-508267&rft_dat=%3Cproquest_hal_p%3E1462762899%3C/proquest_hal_p%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1462762899&rft_id=info:pmid/24089328&rft_els_id=S0006497120362960&rfr_iscdi=true |