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Genetic Defects in Severe Congenital Neutropenia: Emerging Insights into Life and Death of Human Neutrophil Granulocytes
Abstract
The discovery of genetic defects causing congenital neutropenia has illuminated mechanisms controlling differentiation, circulation, and decay of neutrophil granulocytes. Deficiency of the mitochondrial proteins HAX1 and AK2 cause premature apoptosis of myeloid progenitor cells associated with dissipation of the mitochondrial membrane potential, whereas mutations in ELA2/ELANE and G6PC3 are associated with signs of increased endoplasmic reticulum stress. Mutations in the transcriptional repressor GFI1 and the cytoskeletal regulator WASP also lead to defective neutrophil production. This unexpected diversity of factors suggests that multiple pathways are involved in the pathogenesis of congenital neutropenia.
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Self-citationNakazawa, Y., Suzuki, M., Manabe, N., Yamada, T., Kihara‐Negishi, F., Sakurai, T., Tenen, D. G., Iwama, A., Mochizuki, M., & Oikawa, T. (2007) · Oncogene · doi:10.1038/sj.onc.1210140 · Cited by 39
Salipante, S. J., Rojas, M. E. B., Korkmaz, B., Duan, Z., Wechsler, J., Benson, K. F., Person, R., Grimes, H. L., & Horwitz, M. S. (2009) · Molecular and Cellular Biology · doi:10.1128/mcb.00596-09 · Cited by 37
Banerjee, A. K., Saito, K., Meyer, K., Banerjee, S., Ait‐Goughoulte, M., Ray, R. B., & Ray, R. (2009) · Journal of Virology · doi:10.1128/jvi.00872-09 · Cited by 36
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Skokowa, J., Fobiwe, J. P., Lan, D., Thakur, B. K., & Welte, K. (2009) · Blood · doi:10.1182/blood-2008-11-188755 · Cited by 34
Gfi1 ubiquitination and proteasomal degradation is inhibited by the ubiquitin ligase Triad1
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The classical swine fever virus N-terminal protease Npro binds to cellular HAX-1
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Self-citationDiminished proteasomal degradation results in accumulation of Gfi1 protein in monocytes
Marteijn, J. A. F., van der Meer, L. T., van Emst, L., de Witte, T., Jansen, J. H., & van der Reijden, B. A. (2006) · Blood · doi:10.1182/blood-2006-02-003590 · Cited by 24
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Effect of recombinant human granulocyte colony-stimulating factor in reticular dysgenesis.
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Hematopoiesis: a human perspective
Doulatov, S., Notta, F., Laurenti, E., & Dick, J. E. (2012) · Cell stem cell · doi:10.1016/j.stem.2012.01.006 · Cited by 895
The phenotype of human STK4 deficiency
Abdollahpour, H., Appaswamy, G., Kotlarz, D., Diestelhorst, J., Beier, R., Schäffer, A. A., Gertz, E. M., Schambach, A., Kreipe, H. H., Pfeifer, D., et al. (2012) · Blood · doi:10.1182/blood-2011-09-378158 · Cited by 325
Self-citationHuman RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections
Crequer, A., Troeger, A., Patin, E., Ma, C. S., Picard, C., Pedergnana, V., Fieschi, C., Lim, A., Abhyankar, A., Gineau, L., et al. (2012) · Journal of Clinical Investigation · doi:10.1172/jci62949 · Cited by 159
Erythroid DAMPs drive inflammation in SCD
Gladwin, M. T., & Ofori-Acquah, S. F. (2014) · Blood · doi:10.1182/blood-2014-03-563874 · Cited by 113
Non‐steady‐state hematopoiesis regulated by the C/EBP β transcription factor
Hirai, H., Yokota, A., Tamura, A., Sato, A., & Maekawa, T. (2015) · Cancer Science · doi:10.1111/cas.12690 · Cited by 57
Metadata
- Authors
- Klein, C.
- Affiliations
- Department of Pediatric Hematology/Oncology, Hannover Medical School, D-30625 Hannover, Germany;
- Venue
- Annual Review of Immunology
- Publisher
- Annual Reviews
- Published
- 2011-04-23
- Volume
- 29
- Issue
- 1
- Pages
- 399-413
- ISSN
- 0732-0582
- 1545-3278
- Cited by
- 132
- References
- 112
- Language
- en
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.