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Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation
Abstract
A 5-week-old male infant presented with severe bacterial infections and poor wound healing, suggesting a neutrophil defect. Neutrophils from this patient exhibited decreased chemotaxis, polarization, azurophilic granule secretion, and superoxide anion (O 2 − ) production but had normal expression and up-regulation of CD11b. Rac2, which constitutes >96% of the Rac in neutrophils, is a member of the Rho family of GTPases that regulates the actin cytoskeleton and O 2 − production. Western blot analysis of lysates from patient neutrophils demonstrated decreased levels of Rac2 protein. Addition of recombinant Rac to extracts of the patient neutrophils reconstituted O 2 − production in an in vitro assay system. Molecular analysis identified a point mutation in one allele of the Rac2 gene resulting in the substitution of Asp57 by an Asn (Rac2 D57N ). Asp57 is invariant in all defined GTP-binding proteins. Rac2 D57N binds GDP but not GTP and inhibits oxidase activation and O 2 − production in vitro . These data represent the description of an inhibitory mutation in a member of the Rho family of GTPases associated with a human immunodeficiency syndrome.
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“However, a member of the Rac family, Rac2, has recently been implicated in the migration of other, more differentiated hematopoietic cells in mice (10, 11), and a mutant of Rac2 has been implicated in a human phagocyte immunodeficiency (12, 13).”
From Rac and Cdc42 GTPases control hematopoietic stem cell shape, adhesion, migration, and mobilization (2001) · cites this paper as [12]
In the citing paper
“deficiency of Rac2 function results in decreased migration and F-actin generation in multiple differentiated blood cell types (10–13, 18).”
From Rac and Cdc42 GTPases control hematopoietic stem cell shape, adhesion, migration, and mobilization (2001) · cites this paper as [12]
In the citing paper
“Recently, Ambruso et al. (2) and our laboratory (1) identified a genetic mutation (D57N) in Rac2 GTPase which is associated with a human phagocyte immunodeficiency.”
From Biochemical and Biological Characterization of a Human Rac2 GTPase Mutant Associated with Phagocytic Immunodeficiency (2001) · cites this paper as [2]
In the citing paper
“The patient's genotype wild type (WT) Rac2/D57N Rac2 (2) was associated with normal Rac2 message levels (1) and normal cDNA sequences in 50% of cloned cDNAs (1).”
From Biochemical and Biological Characterization of a Human Rac2 GTPase Mutant Associated with Phagocytic Immunodeficiency (2001) · cites this paper as [2]
In the citing paper
“In addition, our laboratory (1) and Ambruso et al. (2) have recently identified a mutation of human Rac2 (G169A; aspartic acid to asparagine at position 57 (D57N)), associated with a phagocytic immunodeficiency, demonstrating that Rac2 also plays a critical role in human blood cells.”
From Biochemical and Biological Characterization of a Human Rac2 GTPase Mutant Associated with Phagocytic Immunodeficiency (2001) · cites this paper as [2]
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Mayadas, T. N., Cullere, X., & Lowell, C. A. (2014) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-020712-164023 · Cited by 1,356
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NADPH oxidases: An overview from structure to innate immunity-associated pathologies
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Metadata
- Authors
- Ambruso, D. R., Knall, C., Abell, A. N., Panepinto, J., Kurkchubasche, A., Thurman, G., Gonzalez-Aller, C., Hiester, A., deBoer, M., Harbeck, R. J., Oyer, R., Johnson, G. L., & Roos, D.
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2000-04-11
- Volume
- 97
- Issue
- 9
- Pages
- 4654-4659
- ISSN
- 0027-8424
- 1091-6490
- Cited by
- 407
- References
- 1
- Language
- en
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