Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation.
Author
Bolton, ChrissyPandey, Sumeet
Pagnamenta, Alistair T
Taylor, Jenny C
Taylor, John M
Marsh, Judith C W
Potter, Victoria
Travis, Simon
Uhlig, Holm H
Burch, Nicola
Harrison, Beth
Morgan, James
Publication date
2020-01
Metadata
Show full item recordAbstract
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.Citation
J Crohns Colitis . 2020 Jan 1;14(1):142-147Type
ArticleAdditional Links
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930000/PMID
31157858Journal
Journal of Crohn's and ColitisPublisher
Oxford University Pressae974a485f413a2113503eed53cd6c53
10.1093/ecco-jcc/jjz112