ArticleBlood2010
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.
Article in Blood, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
What it found
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Who cites it
43 citing papers in PubMed, 85 citations in OpenAlex.
- CAR-engineered cell therapies: current understandings and future perspectives.Molecular biomedicine · 2026Review
- Article
- Case report of congenital neutropenia type 4 with glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency.Clinical case reports · 2024Article
- Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.Frontiers in immunology · 2024Review
- The High Fat Diet Impacts the Plasticity between Fresh and Aged Neutrophils.Journal of cellular immunology · 2023Article
- Intestinal Immune Imbalance is an Alarm in the Development of IBD.Mediators of inflammation · 2023Review
- Engineering chimeric antigen receptor neutrophils from human pluripotent stem cells for targeted cancer immunotherapy.Cell reports · 2022Article
- Molecular mechanisms of aberrant neutrophil differentiation in glycogen storage disease type Ib.Cellular and molecular life sciences : CMLS · 2022Article
- Understanding neutropenia secondary to intrinsic or iatrogenic immune dysregulation.Hematology. American Society of Hematology. Education Program · 2021Article
- At the Bench: Pre-clinical evidence for multiple functions of CXCR4 in cancer.Journal of leukocyte biology · 2021Review
- SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.Blood · 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
- Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.International journal of molecular sciences · 2020Review
- Neutrophil chemoattractant receptors in health and disease: double-edged swords.Cellular & molecular immunology · 2020Review
- WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure.Journal of clinical immunology · 2019Review
- Transforming growth factor-β1 regulates the nascent hematopoietic stem cell niche by promoting gluconeogenesis.Leukemia · 2018Article
- The Physiopathological Role of the Exchangers Belonging to the SLC37 Family.Frontiers in chemistry · 2018Review
- New monogenic disorders identify more pathways to neutropenia: from the clinic to next-generation sequencing.Hematology. American Society of Hematology. Education Program · 2017Review
- Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency.Expert opinion on orphan drugs · 2017Article
Corrections and comments
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Authors and funding
17 authors at 8 institutions in 2 countries.
Funding
Abstract
Mutations in more than 15 genes are now known to cause severe congenital neutropenia (SCN); however, the pathologic mechanisms of most genetic defects are not fully defined. Deficiency of G6PC3, a glucose-6-phosphatase, causes a rare multisystem syndrome with SCN first described in 2009. We identified a family with 2 children with homozygous G6PC3 G260R mutations, a loss of enzymatic function, and typical syndrome features with the exception that their bone marrow biopsy pathology revealed abundant neutrophils consistent with myelokathexis. This pathologic finding is a hallmark of another type of SCN, WHIM syndrome, which is caused by gain-of-function mutations in CXCR4, a chemokine receptor and known neutrophil bone marrow retention factor. We found markedly increased CXCR4 expression on neutrophils from both our G6PC3-deficient patients and G6pc3(-/-) mice. In both patients, granulocyte colony-stimulating factor treatment normalized CXCR4 expression and neutrophil counts. In G6pc3(-/-) mice, the specific CXCR4 antagonist AMD3100 rapidly reversed neutropenia. Thus, myelokathexis associated with abnormally high neutrophil CXCR4 expression may contribute to neutropenia in G6PC3 deficiency and responds well to granulocyte colony-stimulating factor.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.