ArticleJournal of clinical immunology2013
Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency.
Article in Journal of clinical immunology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 49 citations in OpenAlex.
- Glucose-6-phosphatase catalytic subunit 3 enhances host resistance to porcine epidemic diarrhea virus through regulating glycolysis/gluconeogenesis.The veterinary quarterly · 2025Article
- Refractory wound healing and cytopenias treated with a sodium-glucose cotransporter-2 inhibitor in a patient with glucose-6-phosphatase catalytic subunit 3 deficiency.JAAD case reports · 2024Article
- Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2023Article
- Intestinal Immune Imbalance is an Alarm in the Development of IBD.Mediators of inflammation · 2023Review
- The paradox of autoimmunity and autoinflammation in inherited neutrophil disorders - in search of common patterns.Frontiers in immunology · 2023Review
- Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.Journal of inherited metabolic disease · 2022Article
- Neutrophil-T cell crosstalk in inflammatory bowel disease.Immunology · 2021Review
- Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease.iScience · 2021Article
- Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused byFrontiers in immunology · 2021Article
- Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies.Inflammatory bowel diseases · 2020Review
- Genetics on early onset inflammatory bowel disease: An update.Genes & diseases · 2020Review
- Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation.Journal of Crohn's & colitis · 2020Article
- Gastrointestinal Disorders Associated with Primary Immunodeficiency Diseases.Clinical reviews in allergy & immunology · 2019Review
- Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.Immunological reviews · 2019Review
- Recent Advance in Very Early Onset Inflammatory Bowel Disease.Pediatric gastroenterology, hepatology & nutrition · 2019Review
- Recent advance in very early-onset inflammatory bowel disease.Intestinal research · 2019Article
- [Features and management of very early onset inflammatory bowel disease].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Review
- Opportunities and challenges of whole-genome and -exome sequencing.BMC genetics · 2017Review
- Glucose-6-Phosphatase Catalytic Subunit 3 (Frontiers in immunology · 2017Article
- Children with rare diseases of neutrophil granulocytes: from therapeutic orphans to pioneers of individualized medicine.Hematology. American Society of Hematology. Education Program · 2016Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeG6PC3 deficiency presents as a complex and heterogeneous syndrome that classically associates severe congenital neutropenia with cardiac and urogenital developmental defects. Here we investigate the findings of T cell lymphopenia and inflammatory bowel disease in a child with G6PC3 deficiency due to compound heterozygous mutations in intron 3 (c.IVS3-1 G>A) and exon 6 (c.G778G/C; p.Gly260/Arg).
methodsHistological examination was conducted on all biopsy specimens. Immunophenotyping and lymphocyte proliferation assays were performed. Immunoglobulin levels and vaccine responses were measured.
resultsThe patient showed persistent global T cell lymphopenia, with only 8 to 13 % of thymic naive CD31(+)CD45RA(+) cells among CD4 T cells (normal range 27-60 %). Proliferation assays and vaccine responses were within normal limits. The gastrointestinal inflammatory lesions were very closely related to those of glycogen storage disease type 1b, with a Crohn's-like appearance but without granuloma or increased cryptic abscesses. The gastrointestinal disease responded to infliximab therapy. These findings were associated with a polyclonal hypergammaglobuliemia G.
conclusionG6PC3 deficiency may present with inflammatory bowel disease and T cell lymphopenia. The diagnosis should thus be considered in a patient with chronic congenital neutropenia and gastrointestinal symptoms. Patients with confirmed disease should also undergo T cell phenotyping to rule out cellular immunodeficiency.
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