ArticleHaematologica2014
Genetic correction of HAX1 in induced pluripotent stem cells from a patient with severe congenital neutropenia improves defective granulopoiesis.
Article in Haematologica, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 63 citations in OpenAlex.
- Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells.The Journal of clinical investigation · 2015Trial
- Modeling myeloid cell development in health and disease using induced pluripotent stem cells.Frontiers in immunology · 2026Review
- A pluripotent stem cell model of Emberger syndrome reveals reduced lymphatic endothelial differentiation.International journal of hematology · 2025Article
- HAX1 inhibits apoptosis and promotes maturation of neutrophils.Cell communication and signaling : CCS · 2025Article
- G-CSF resistance of ELANE-mutant neutropenia depends on SERF1-containing truncated-neutrophil elastase aggregates.The Journal of clinical investigation · 2024Article
- The occurrence and development of induced pluripotent stem cells.Frontiers in genetics · 2024Review
- Pediatric Bone Marrow Failure: A Broad Landscape in Need of Personalized Management.Journal of clinical medicine · 2023Review
- Potential of Induced Pluripotent Stem Cells for Use in Gene Therapy: History, Molecular Bases, and Medical Perspectives.Biomolecules · 2021Review
- A zebrafish model for HAX1-associated congenital neutropenia.Haematologica · 2021Article
- Elucidation of the Pathogenesis of Autoinflammatory Diseases Using iPS Cells.Children (Basel, Switzerland) · 2021Review
- Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.The Journal of allergy and clinical immunology · 2020Article
- Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors.Scientific reports · 2020Article
- Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient induced pluripotent stem cells.Gene therapy · 2020Article
- Kostmann Syndrome With Neurological Abnormalities: A Case Report and Literature Review.Frontiers in pediatrics · 2020Article
- LMO2 activation by deacetylation is indispensable for hematopoiesis and T-ALL leukemogenesis.Blood · 2019Article
- Modeling blood diseases with human induced pluripotent stem cells.Disease models & mechanisms · 2019Review
- Article
- Targeted genome editing restores T cell differentiation in a humanized X-SCID pluripotent stem cell disease model.Scientific reports · 2017Article
- Gene correction ofBlood advances · 2017Article
- Severe congenital neutropenias.Nature reviews. Disease primers · 2017Review
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
HAX1 was identified as the gene responsible for the autosomal recessive type of severe congenital neutropenia. However, the connection between mutations in the HAX1 gene and defective granulopoiesis in this disease has remained unclear, mainly due to the lack of a useful experimental model for this disease. In this study, we generated induced pluripotent stem cell lines from a patient presenting for severe congenital neutropenia with HAX1 gene deficiency, and analyzed their in vitro neutrophil differentiation potential by using a novel serum- and feeder-free directed differentiation culture system. Cytostaining and flow cytometric analyses of myeloid cells differentiated from patient-derived induced pluripotent stem cells showed arrest at the myeloid progenitor stage and apoptotic predisposition, both of which replicated abnormal granulopoiesis. Moreover, lentiviral transduction of the HAX1 cDNA into patient-derived induced pluripotent stem cells reversed disease-related abnormal granulopoiesis. This in vitro neutrophil differentiation system, which uses patient-derived induced pluripotent stem cells for disease investigation, may serve as a novel experimental model and a platform for high-throughput screening of drugs for various congenital neutrophil disorders in the future.
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