ArticleOrphanet journal of rare diseases2014
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.
Article in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29 citing papers in PubMed, 64 citations in OpenAlex.
- Prenatal diagnosis of glucose-6-phosphatase catalytic subunit 3 deficiency (Dursun syndrome) using whole-exome sequencing: A case report of severe fetal cardiomyopathy in a consanguineous family.The Journal of international medical research · 2026Article
- Glucose-6-phosphatase catalytic subunit 3 enhances host resistance to porcine epidemic diarrhea virus through regulating glycolysis/gluconeogenesis.The veterinary quarterly · 2025Article
- Article
- A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia.Journal of clinical immunology · 2024Article
- Management of a Patient with Cardiovascular Disease Should Include Assessment of Primary and Secondary Immunodeficiencies: Part 1-Primary Immunodeficiencies.Healthcare (Basel, Switzerland) · 2024Review
- 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
- The metabolic basis of inherited neutropenias.British journal of haematology · 2024Review
- Case report: Granulocyte-macrophage colony-stimulating factor sargramostim did not rescue the neutrophil phenotype in two patients with JAGN1-mutant severe congenital neutropenia.Frontiers in immunology · 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
- Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors.Diagnostics (Basel, Switzerland) · 2023Review
- Intestinal Immune Imbalance is an Alarm in the Development of IBD.Mediators of inflammation · 2023Review
- Genetics of severe congenital neutropenia as a gateway to personalized therapy.Hematology. American Society of Hematology. Education Program · 2022Article
- SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency.Journal of clinical immunology · 2022Article
- Chronic neutropenic colitis with complete colonic obstruction in a patient with severe congenital neutropenia associated with G6PC3 mutations.Annals of hematology · 2022Article
- Immune-mediated inflammatory diseases of the gastrointestinal tract: Beyond Crohn's disease and ulcerative colitis.JGH open : an open access journal of gastroenterology and hepatology · 2022Review
- Diagnosis and therapeutic decision-making for the neutropenic patient.Hematology. American Society of Hematology. Education Program · 2021Article
- 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
- Metabolic abnormalities in G6PC3-deficient human neutrophils result in severe functional defects.Blood advances · 2020Article
- Hypothesis: A Novel Neuroprotective Role for Glucose-6-phosphatase (G6PC3) in Brain-To Maintain Energy-Dependent Functions Including Cognitive Processes.Neurochemical research · 2020Review
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21 authors at 11 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe purpose of this study was to describe the natural history of severe congenital neutropenia (SCN) in 14 patients with G6PC3 mutations and enrolled in the French SCN registry.
methodsAmong 605 patients included in the French SCN registry, we identified 8 pedigrees that included 14 patients with autosomal recessive G6PC3 mutations.
resultsMedian age at the last visit was 22.4 years. All patients had developed various comordibities, including prominent veins (n = 12), cardiac malformations (n = 12), intellectual disability (n = 7), and myopathic syndrome with recurrent painful cramps (n = 1). Three patients developed Crohn's disease, and five had chronic diarrhea with steatorrhea. Neutropenia was profound (<0.5 × 109/l) in almost all cases at diagnosis and could marginally fluctuate. The bone marrow smears exhibited mild late-stage granulopoeitic defects. One patient developed myelodysplasia followed by acute myelogenous leukemia with translocation (18, 21) at age 14 years, cured by chemotherapy and hematopoietic stem cell transplantation. Four deaths occurred, including one from sepsis at age 5, one from pulmonary late-stage insufficiency at age 19, and two from sudden death, both at age 30 years. A new homozygous mutation (c.249G > A /p.Trp83*) was detected in one pedigree.
conclusionsSevere congenital neutropenia with autosomal recessive G6PC3 mutations is associated with considerable clinical heterogeneity. This series includes the first described case of malignancy in this neutropenia.
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