The DOI matches its Crossref record; 112 of the 112 references it cites were found in a registry or an index.
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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“Moreover, none of the known patients with myeloid PIDs, including disorders affecting mononuclear or polymorphonuclear phagocytes, display persistent EV-HPV infections (41,42).”
From Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections (2012) · cites this paper as [41]
Citations
Cites
2 retracted
Rathinam, C., & Klein, C. (2007) · PLoS ONE · doi:10.1371/journal.pone.0000306 · Cited by 28
Self-citationRetractedTranscription Factor Gfi1 Restricts B Cell-Mediated Autoimmunity
Rathinam, C., Lassmann, H., Mengel, M., & Klein, C. (2008) · The Journal of Immunology · doi:10.4049/jimmunol.181.9.6222 · Cited by 16
Self-citationRetractedNeutrophil Extracellular Traps Kill Bacteria
Brinkmann, V., Reichard, U., Goosmann, C., Fauler, B., Uhlemann, Y., Weiss, D. S., Weinrauch, Y., & Zychlinsky, A. (2004) · Science · doi:10.1126/science.1092385 · Cited by 10,268
Signal integration in the endoplasmic reticulum unfolded protein response
Ron, D., & Walter, P. (2007) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2199 · Cited by 6,470
Neutrophils and immunity: challenges and opportunities
Nathan, C. (2006) · Nature reviews. Immunology · doi:10.1038/nri1785 · Cited by 2,971
From endoplasmic-reticulum stress to the inflammatory response
Zhang, K., & Kaufman, R. J. (2008) · Nature · doi:10.1038/nature07203 · Cited by 2,010
BAX and BAK Regulation of Endoplasmic Reticulum Ca 2+ : A Control Point for Apoptosis
Scorrano, L., Oakes, S. A., Opferman, J. T., Cheng, E. H. Y., Sorcinelli, M. D., Pozzan, T., & Korsmeyer, S. J. (2003) · Science · doi:10.1126/science.1081208 · Cited by 1,387
Wyss-Coray (2006) · doi:10.1038/nm1484 · Cited by 1,284
Structure of a serpin–protease complex shows inhibition by deformation
Huntington, J. A., Read, R. J., & Carrell, R. W. (2000) · Nature · doi:10.1038/35038119 · Cited by 1,113
Neutrophil serine proteases: specific regulators of inflammation
Pham, C. T. N. (2006) · Nature reviews. Immunology · doi:10.1038/nri1841 · Cited by 1,054
Cited by
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
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- CoChat. (2026). Citation check: Genetic Defects in Severe Congenital Neutropenia: Emerging Insights into Life and Death of Human Neutrophil Granulocytes. https://app.cochat.ai/papers/10.1146/annurev-immunol-030409-101259
- The paper
- Klein, C. (2011). Genetic Defects in Severe Congenital Neutropenia: Emerging Insights into Life and Death of Human Neutrophil Granulocytes. Annual Review of Immunology. https://doi.org/10.1146/annurev-immunol-030409-101259
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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.
