Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation
Abstract Mendelian disorders in glucose-6-phosphate metabolism can present with inflammatory bowel disease [IBD]. Using whole genome sequencing we identified a homozygous variant in the glucose-6-phosphatase G6PC3 gene [c.911dupC; p.Q305fs*82] in an adult patient with congenital neutropenia, lymphop...
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| Veröffentlicht in: | Journal of Crohn's and colitis 2020-01, Vol.14 (1), p.142-147 |
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| container_title | Journal of Crohn's and colitis |
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| creator | Bolton, Chrissy Burch, Nicola Morgan, James Harrison, Beth Pandey, Sumeet Pagnamenta, Alistair T Taylor, Jenny C Taylor, John M Marsh, Judith C W Potter, Victoria Travis, Simon Uhlig, Holm H |
| description | Abstract
Mendelian disorders in glucose-6-phosphate metabolism can present with inflammatory bowel disease [IBD]. Using whole genome sequencing we identified a homozygous variant in the glucose-6-phosphatase G6PC3 gene [c.911dupC; p.Q305fs*82] in an adult patient with congenital neutropenia, lymphopenia and childhood-onset, therapy-refractory Crohn’s disease. Because G6PC3 is expressed in several haematopoietic and non-haematopoietic cells it was unclear whether allogeneic stem cell transplantation [HSCT] would benefit this patient with intestinal inflammation. We show that HSCT resolves G6PC3-associated immunodeficiency and the Crohn’s disease phenotype. It illustrates how even in adulthood, next-generation sequencing can have a significant impact on clinical practice and healthcare utilization in patients with immunodeficiency and monogenic IBD. |
| doi_str_mv | 10.1093/ecco-jcc/jjz112 |
| format | Article |
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Mendelian disorders in glucose-6-phosphate metabolism can present with inflammatory bowel disease [IBD]. Using whole genome sequencing we identified a homozygous variant in the glucose-6-phosphatase G6PC3 gene [c.911dupC; p.Q305fs*82] in an adult patient with congenital neutropenia, lymphopenia and childhood-onset, therapy-refractory Crohn’s disease. Because G6PC3 is expressed in several haematopoietic and non-haematopoietic cells it was unclear whether allogeneic stem cell transplantation [HSCT] would benefit this patient with intestinal inflammation. We show that HSCT resolves G6PC3-associated immunodeficiency and the Crohn’s disease phenotype. It illustrates how even in adulthood, next-generation sequencing can have a significant impact on clinical practice and healthcare utilization in patients with immunodeficiency and monogenic IBD.</description><identifier>ISSN: 1873-9946</identifier><identifier>EISSN: 1876-4479</identifier><identifier>DOI: 10.1093/ecco-jcc/jjz112</identifier><identifier>PMID: 31157858</identifier><language>eng</language><publisher>UK: Oxford University Press</publisher><subject>Congenital Bone Marrow Failure Syndromes - complications ; Crohn Disease - diagnosis ; Crohn Disease - etiology ; Crohn Disease - therapy ; Glycogen Storage Disease Type I - complications ; Hematopoietic Stem Cell Transplantation ; Humans ; Male ; Neutropenia - complications ; Neutropenia - congenital ; Short Report ; Young Adult</subject><ispartof>Journal of Crohn's and colitis, 2020-01, Vol.14 (1), p.142-147</ispartof><rights>European Crohn’s and Colitis Organisation 2019. 2019</rights><rights>European Crohn’s and Colitis Organisation 2019.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c428t-ce3e36bf114d1d149e4267a4b5b412453c3bc695fe68aa36a5a2bfe03f8fb6143</citedby><cites>FETCH-LOGICAL-c428t-ce3e36bf114d1d149e4267a4b5b412453c3bc695fe68aa36a5a2bfe03f8fb6143</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,1578,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31157858$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bolton, Chrissy</creatorcontrib><creatorcontrib>Burch, Nicola</creatorcontrib><creatorcontrib>Morgan, James</creatorcontrib><creatorcontrib>Harrison, Beth</creatorcontrib><creatorcontrib>Pandey, Sumeet</creatorcontrib><creatorcontrib>Pagnamenta, Alistair T</creatorcontrib><creatorcontrib>Taylor, Jenny C</creatorcontrib><creatorcontrib>Taylor, John M</creatorcontrib><creatorcontrib>Marsh, Judith C W</creatorcontrib><creatorcontrib>Potter, Victoria</creatorcontrib><creatorcontrib>Travis, Simon</creatorcontrib><creatorcontrib>Uhlig, Holm H</creatorcontrib><creatorcontrib>Oxford IBD cohort investigators</creatorcontrib><title>Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation</title><title>Journal of Crohn's and colitis</title><addtitle>J Crohns Colitis</addtitle><description>Abstract
Mendelian disorders in glucose-6-phosphate metabolism can present with inflammatory bowel disease [IBD]. Using whole genome sequencing we identified a homozygous variant in the glucose-6-phosphatase G6PC3 gene [c.911dupC; p.Q305fs*82] in an adult patient with congenital neutropenia, lymphopenia and childhood-onset, therapy-refractory Crohn’s disease. Because G6PC3 is expressed in several haematopoietic and non-haematopoietic cells it was unclear whether allogeneic stem cell transplantation [HSCT] would benefit this patient with intestinal inflammation. We show that HSCT resolves G6PC3-associated immunodeficiency and the Crohn’s disease phenotype. It illustrates how even in adulthood, next-generation sequencing can have a significant impact on clinical practice and healthcare utilization in patients with immunodeficiency and monogenic IBD.</description><subject>Congenital Bone Marrow Failure Syndromes - complications</subject><subject>Crohn Disease - diagnosis</subject><subject>Crohn Disease - etiology</subject><subject>Crohn Disease - therapy</subject><subject>Glycogen Storage Disease Type I - complications</subject><subject>Hematopoietic Stem Cell Transplantation</subject><subject>Humans</subject><subject>Male</subject><subject>Neutropenia - complications</subject><subject>Neutropenia - congenital</subject><subject>Short Report</subject><subject>Young Adult</subject><issn>1873-9946</issn><issn>1876-4479</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>TOX</sourceid><sourceid>EIF</sourceid><recordid>eNptkUFv1DAQhSNERUvhzA35iJDMxrHjJBekdgttpUogKGdr4h13vXLsEDug5cwPx9ttqyLVlxlrnr_xzCuKN6z8wMqOL1DrQDdaLzabP4xVz4oj1jaSCtF0z29zTrtOyMPiZYybsqy7umlfFIecsZzU7VHx9xsONkYbPAmGXHrjYBgghWlLTsNvdOTMRoSIxHpy7mYdIlJJv65DHNeQdgVOztBYbdHrLem35MS5cIMerSYXgDvWGCymfP2ecCBLdI5cT-Dj6MAnSLn1q-LAgIv4-i4eFz8-f7peXtCrL-eXy5MrqkXVJqqRI5e9YUys2IqJDkUlGxB93QtWiZpr3mvZ1QZlC8Al1FD1BktuWtNLJvhx8XHPHed-wJVGnyZwapzsANNWBbDq_4q3a3UTfinZ8TKfDHh3B5jCzxljUnl5Ok8EHsMcVVVxIdom7zZLF3upnkKME5qHNqxUO-_UzjuVvVN77_KLt49_96C_NysL3u8FYR6fpNFHtH-mvKnY</recordid><startdate>20200101</startdate><enddate>20200101</enddate><creator>Bolton, Chrissy</creator><creator>Burch, Nicola</creator><creator>Morgan, James</creator><creator>Harrison, Beth</creator><creator>Pandey, Sumeet</creator><creator>Pagnamenta, Alistair T</creator><creator>Taylor, Jenny C</creator><creator>Taylor, John M</creator><creator>Marsh, Judith C W</creator><creator>Potter, Victoria</creator><creator>Travis, Simon</creator><creator>Uhlig, Holm H</creator><general>Oxford University Press</general><scope>TOX</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>5PM</scope></search><sort><creationdate>20200101</creationdate><title>Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation</title><author>Bolton, Chrissy ; Burch, Nicola ; Morgan, James ; Harrison, Beth ; Pandey, Sumeet ; Pagnamenta, Alistair T ; Taylor, Jenny C ; Taylor, John M ; Marsh, Judith C W ; Potter, Victoria ; Travis, Simon ; Uhlig, Holm H</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c428t-ce3e36bf114d1d149e4267a4b5b412453c3bc695fe68aa36a5a2bfe03f8fb6143</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Congenital Bone Marrow Failure Syndromes - complications</topic><topic>Crohn Disease - diagnosis</topic><topic>Crohn Disease - etiology</topic><topic>Crohn Disease - therapy</topic><topic>Glycogen Storage Disease Type I - complications</topic><topic>Hematopoietic Stem Cell Transplantation</topic><topic>Humans</topic><topic>Male</topic><topic>Neutropenia - complications</topic><topic>Neutropenia - congenital</topic><topic>Short Report</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bolton, Chrissy</creatorcontrib><creatorcontrib>Burch, Nicola</creatorcontrib><creatorcontrib>Morgan, James</creatorcontrib><creatorcontrib>Harrison, Beth</creatorcontrib><creatorcontrib>Pandey, Sumeet</creatorcontrib><creatorcontrib>Pagnamenta, Alistair T</creatorcontrib><creatorcontrib>Taylor, Jenny C</creatorcontrib><creatorcontrib>Taylor, John M</creatorcontrib><creatorcontrib>Marsh, Judith C W</creatorcontrib><creatorcontrib>Potter, Victoria</creatorcontrib><creatorcontrib>Travis, Simon</creatorcontrib><creatorcontrib>Uhlig, Holm H</creatorcontrib><creatorcontrib>Oxford IBD cohort investigators</creatorcontrib><collection>Oxford Journals Open Access Collection</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>PubMed Central (Full Participant titles)</collection><jtitle>Journal of Crohn's and colitis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bolton, Chrissy</au><au>Burch, Nicola</au><au>Morgan, James</au><au>Harrison, Beth</au><au>Pandey, Sumeet</au><au>Pagnamenta, Alistair T</au><au>Taylor, Jenny C</au><au>Taylor, John M</au><au>Marsh, Judith C W</au><au>Potter, Victoria</au><au>Travis, Simon</au><au>Uhlig, Holm H</au><aucorp>Oxford IBD cohort investigators</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation</atitle><jtitle>Journal of Crohn's and colitis</jtitle><addtitle>J Crohns Colitis</addtitle><date>2020-01-01</date><risdate>2020</risdate><volume>14</volume><issue>1</issue><spage>142</spage><epage>147</epage><pages>142-147</pages><issn>1873-9946</issn><eissn>1876-4479</eissn><abstract>Abstract
Mendelian disorders in glucose-6-phosphate metabolism can present with inflammatory bowel disease [IBD]. Using whole genome sequencing we identified a homozygous variant in the glucose-6-phosphatase G6PC3 gene [c.911dupC; p.Q305fs*82] in an adult patient with congenital neutropenia, lymphopenia and childhood-onset, therapy-refractory Crohn’s disease. Because G6PC3 is expressed in several haematopoietic and non-haematopoietic cells it was unclear whether allogeneic stem cell transplantation [HSCT] would benefit this patient with intestinal inflammation. We show that HSCT resolves G6PC3-associated immunodeficiency and the Crohn’s disease phenotype. It illustrates how even in adulthood, next-generation sequencing can have a significant impact on clinical practice and healthcare utilization in patients with immunodeficiency and monogenic IBD.</abstract><cop>UK</cop><pub>Oxford University Press</pub><pmid>31157858</pmid><doi>10.1093/ecco-jcc/jjz112</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| issn | 1873-9946 1876-4479 |
| language | eng |
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| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Alma/SFX Local Collection |
| subjects | Congenital Bone Marrow Failure Syndromes - complications Crohn Disease - diagnosis Crohn Disease - etiology Crohn Disease - therapy Glycogen Storage Disease Type I - complications Hematopoietic Stem Cell Transplantation Humans Male Neutropenia - complications Neutropenia - congenital Short Report Young Adult |
| title | Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation |
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