Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation.
Bolton, Chrissy Pandey, Sumeet Pagnamenta, Alistair T Taylor, Jenny C Taylor, John M Marsh, Judith C W Potter, Victoria Travis, Simon Uhlig, Holm H
Bolton, Chrissy
Pandey, Sumeet
Pagnamenta, Alistair T
Taylor, Jenny C
Taylor, John M
Marsh, Judith C W
Potter, Victoria
Travis, Simon
Uhlig, Holm H
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2020-01
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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.
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J Crohns Colitis . 2020 Jan 1;14(1):142-147
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Article