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Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation

Ambruso, Daniel R., Knall, Cindy, Abell, Amy N., Panepinto, Julie, Kurkchubasche, Arlet, Thurman, Gail, Gonzalez-Aller, Carolina, Hiester, Andrew, deBoer, Martin, Harbeck, Ronald J., Oyer, Ryan, Johnson, Gary L., Roos, Dirk·2000·Proceedings of the National Academy of Sciences
DOI 10.1073/pnas.080074897
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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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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
DOI
10.1073/pnas.080074897
Cited by
407
References
1
Language
en

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