Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation

J Crohns Colitis. 2020 Jan 1;14(1):142-147. doi: 10.1093/ecco-jcc/jjz112.

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.

Keywords: Exome sequencing; genomics; immunodeficiency; inflammatory bowel disease.

Publication types

  • Case Reports

MeSH terms

  • Congenital Bone Marrow Failure Syndromes / complications*
  • Crohn Disease / diagnosis
  • Crohn Disease / etiology
  • Crohn Disease / therapy*
  • Glycogen Storage Disease Type I / complications*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Male
  • Neutropenia / complications
  • Neutropenia / congenital*
  • Young Adult

Supplementary concepts

  • Neutropenia, Severe Congenital, Autosomal Recessive 3