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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.

Original publication




Journal article


J Crohns Colitis

Publication Date





142 - 147


Exome sequencing, genomics, immunodeficiency, inflammatory bowel disease, Congenital Bone Marrow Failure Syndromes, Crohn Disease, Glycogen Storage Disease Type I, Hematopoietic Stem Cell Transplantation, Humans, Male, Neutropenia, Young Adult