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 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.
['Bolton|Chrissy|C|', 'Burch|Nicola|N|', 'Morgan|James|J|', 'Harrison|Beth|B|', 'Pandey|Sumeet|S|', 'Pagnamenta|Alistair T|AT|', '|||', 'Taylor|Jenny C|JC|', 'Taylor|John M|JM|', 'Marsh|Judith C W|JCW|', 'Potter|Victoria|V|', 'Travis|Simon|S|', 'Uhlig|Holm H|HH|']
D000080984:Congenital Bone Marrow Failure Syndromes D003424:Crohn Disease D005953:Glycogen Storage Disease Type I D018380:Hematopoietic Stem Cell Transplantation D006801:Humans D008297:Male D009503:Neutropenia D055815:Young Adult
inflammatory bowel disease genomics immunodeficiency Exome sequencing