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Clinical features of a human Rac2 mutation: A complex neutrophil dysfunction disease
Abstract
The case of an infant with multiple, rapidly progressive, soft-tissue infections is presented. Despite features suggesting a neutrophil disorder, results of screening tests of phagocyte function were normal. A novel, multifaceted leukocyte disorder-distinguished by defects in shape change, chemotaxis, ingestion, degranulation, superoxide anion production, and bactericidal activity-was established secondary to a defect in Rac2.
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In the citing paper
“Based on the described phenotype of Rac2−/− mice, two patients have been identified in whom the above mentioned dominant negative D57N mutation affecting the GTP-binding pocket of the RAC2 gene occurred spontaneously and lead to severe phagocytic immunodeficiency in both children53,66,23,54.”
From Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders (2013) · cites this paper as [66]
In the citing paper
“This was instrumental in identifying a DN RAC2 mutation in a patient presenting with recurrent infections and leukocytosis closely resembling a neutrophil disorder previously observed in Rac2−/− mice and the human disease Leukocyte Adhesion Deficiency (LAD)53,66.”
From Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders (2013) · cites this paper as [66]
In the citing paper
“Whereas the first patient reported in 2000 presented with clinical symptoms that closely resembled the phenotype observed in Rac2−/− mice”
From Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders (2013) · cites this paper as [66]
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Research works printed but not linked: 19
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Cited by
Myeloperoxidase: friend and foe
Klebanoff, S. J. (2005) · Journal of Leukocyte Biology · doi:10.1189/jlb.1204697 · Cited by 2,282
Pai, S.-Y., Kim, C., & Williams, D. A. (2010) · Disease Markers · doi:10.1155/2010/380291 · Cited by 85
Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders
Troeger, A., & Williams, D. A. (2013) · Experimental Cell Research · doi:10.1016/j.yexcr.2013.07.002 · Cited by 73
Metadata
- Authors
- Kurkchubasche, A. G., Panepinto, J. A., Tracy, T. F., Thurman, G. W., & Ambruso, D. R.
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 2001-07
- Volume
- 139
- Issue
- 1
- Pages
- 141-147
- ISSN
- 0022-3476
- Cited by
- 49
- References
- 0
- Language
- en
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- Kurkchubasche, A. G., Panepinto, J. A., Tracy, T. F., Thurman, G. W., & Ambruso, D. R. (2001). Clinical features of a human Rac2 mutation: A complex neutrophil dysfunction disease. The Journal of Pediatrics. https://doi.org/10.1067/mpd.2001.114718
