Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation. (3rd June 2019)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Journal of Crohn's and colitis. Volume 14:Number 1(2020)
• Page Start: 142
• Page End: 147
• Publication Date: 2019-06-03
• Subjects: Exome sequencing -- inflammatory bowel disease -- genomics -- immunodeficiency; Inflammatory bowel diseases -- Periodicals; 616.344005
• DOI: 10.1093/ecco-jcc/jjz112
• Languages: English
• ISSNs: 1873-9946

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.