Remission of inflammatory bowel disease in Glucose-6-Phosphatase 3 deficiency by allogeneic haematopoietic stem cell transplantation
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 (c.911dupC; p.Q305fs*82) in an adult patient with congenital neutropenia, lymphopenia and child...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Oxford University Press
2019
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| _version_ | 1797083937398325248 |
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| author | Bolton, C Burch, N Morgan, J Harrison, B Pandey, S Pagnamenta, AT Taylor, JC Taylor, JM Marsh, JCW Potter, V Travis, S Uhlig, HH |
| author_facet | Bolton, C Burch, N Morgan, J Harrison, B Pandey, S Pagnamenta, AT Taylor, JC Taylor, JM Marsh, JCW Potter, V Travis, S Uhlig, HH |
| author_sort | Bolton, C |
| collection | OXFORD |
| description | 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 (c.911dupC; p.Q305fs*82) in an adult patient with congenital neutropenia, lymphopenia and childhood-onset, therapy-refractory Crohn’s disease. Since 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. |
| first_indexed | 2024-03-07T01:48:36Z |
| format | Journal article |
| id | oxford-uuid:99493526-be3e-4129-b651-265945c5b38f |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T01:48:36Z |
| publishDate | 2019 |
| publisher | Oxford University Press |
| record_format | dspace |
| spelling | oxford-uuid:99493526-be3e-4129-b651-265945c5b38f2022-03-27T00:13:16ZRemission of inflammatory bowel disease in Glucose-6-Phosphatase 3 deficiency by allogeneic haematopoietic stem cell transplantationJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:99493526-be3e-4129-b651-265945c5b38fEnglishSymplectic Elements at OxfordOxford University Press2019Bolton, CBurch, NMorgan, JHarrison, BPandey, SPagnamenta, ATTaylor, JCTaylor, JMMarsh, JCWPotter, VTravis, SUhlig, HHMendelian 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 (c.911dupC; p.Q305fs*82) in an adult patient with congenital neutropenia, lymphopenia and childhood-onset, therapy-refractory Crohn’s disease. Since 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. |
| spellingShingle | Bolton, C Burch, N Morgan, J Harrison, B Pandey, S Pagnamenta, AT Taylor, JC Taylor, JM Marsh, JCW Potter, V Travis, S Uhlig, HH Remission of inflammatory bowel disease in Glucose-6-Phosphatase 3 deficiency by allogeneic haematopoietic stem cell transplantation |
| title | Remission of inflammatory bowel disease in Glucose-6-Phosphatase 3 deficiency by allogeneic haematopoietic stem cell transplantation |
| title_full | Remission of inflammatory bowel disease in Glucose-6-Phosphatase 3 deficiency by allogeneic haematopoietic stem cell transplantation |
| title_fullStr | Remission of inflammatory bowel disease in Glucose-6-Phosphatase 3 deficiency by allogeneic haematopoietic stem cell transplantation |
| title_full_unstemmed | Remission of inflammatory bowel disease in Glucose-6-Phosphatase 3 deficiency by allogeneic haematopoietic stem cell transplantation |
| title_short | Remission of inflammatory bowel disease in Glucose-6-Phosphatase 3 deficiency by allogeneic haematopoietic stem cell transplantation |
| title_sort | remission of inflammatory bowel disease in glucose 6 phosphatase 3 deficiency by allogeneic haematopoietic stem cell transplantation |
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