Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation.
J Crohns Colitis
; 14(1): 142-147, 2020 Jan 01.
Article
in En
| MEDLINE
| ID: mdl-31157858
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Crohn Disease
/
Glycogen Storage Disease Type I
/
Hematopoietic Stem Cell Transplantation
/
Congenital Bone Marrow Failure Syndromes
/
Neutropenia
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limits:
Adult
/
Humans
/
Male
Language:
En
Journal:
J Crohns Colitis
Journal subject:
GASTROENTEROLOGIA
Year:
2020
Document type:
Article
Affiliation country:
United kingdom