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Disorders of Neutrophil Function

An Overview

  • Protocol
Neutrophil Methods and Protocols

Part of the book series: Methods in Molecular Biology™ ((MIMB,volume 412))

Abstract

Primary disorders of neutrophil function result from impairment in neutrophil responses that are critical for host defense. This chapter summarizes inherited disorders of neutrophils that cause defects in neutrophil adhesion, migration, and oxidative killing. These include leukocyte adhesion deficiencies, actin defects, and other disorders of chemotaxis; hyperimmunoglobulin E syndrome; Chédiak-Higashi syndrome; neutrophil specific granule deficiency; chronic granulomatous disease; and myeloperoxidase deficiency. Diagnostic tests and treatment approaches are also summarized for each neutrophil disorder.

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References

  1. Dinauer, M. C. and Coates, T. D. (2005) Disorders of phagocyte function and number, in Hematology: Basic Principles and Practices, (Hoffman, R., Benz, J., Shattil, S., et al., eds.), Elsevier Churchill Livingstone, Philadelphia, pp. 787–830.

    Google Scholar 

  2. Lekstrom-Himes, J. A. and Gallin, J. I. (2000) Immunodeficiency diseases caused by defects in phagocytes. N. Engl. J. Med. 343, 1703–1714.

    Article  PubMed  CAS  Google Scholar 

  3. Etzioni, A. and Alon, R. (2004) Leukocyte adhesion deficiency III: a group of integrin activation defects in hematopoietic lineage cells. Curr. Opin. Allergy Clin. Immunol. 4, 485–490.

    Article  PubMed  CAS  Google Scholar 

  4. Bunting, M., Harris, E. S., McIntyre, T. M., Prescott, S. M., and Zimmerman, G. A. (2002) Leukocyte adhesion deficiency syndromes: adhesion and tethering defects involving beta 2 integrins and selectin ligands. Curr. Opin. Hematol. 9, 30–35.

    Article  PubMed  Google Scholar 

  5. Brown, E. (1997) Neutrophil adhesion and the therapy of inflammation. Semin. Hematol. 34, 319–326.

    PubMed  CAS  Google Scholar 

  6. Lowell, C. A. and Berton, G. (1999) Integrin signal transduction in myeloid leukocytes. J. Leukoc. Biol. 65, 313–320.

    PubMed  CAS  Google Scholar 

  7. McDowall, A., Inwald, D., Leitinger, B., et al. (2003) A novel form of integrin dysfunction involving beta1, beta2, and beta3 integrins. J. Clin. Invest. 111, 51–60.

    PubMed  CAS  Google Scholar 

  8. Kinashi, T., Aker, M., Sokolovsky-Eisenberg, M., et al. (2004) LAD-III, a leukocyte adhesion deficiency syndrome associated with defective Rap1 activation and impaired stabilization of integrin bonds. Blood 103, 1033–1036.

    Article  PubMed  CAS  Google Scholar 

  9. Ambruso, D. R., Knall, C., Abell, A. N., et al. (2000) Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc. Natl. Acad. Sci. USA 97, 4654–4659.

    Article  PubMed  CAS  Google Scholar 

  10. Williams, D. A., Tao, W., Yang, F., et al. (2000) A dominant negative mutation of the hematopoietic-specific RhoGTPase, Rac 2, is associated with a human phagocyte immunodeficiency. Blood 96, 1646–1654.

    PubMed  CAS  Google Scholar 

  11. Roos, D., Kuijpers, T. W., Mascart-Lemone, F., et al. (1993) A novel syndrome of severe neutrophil dysfunction: unresponsiveness confined to chemotaxim-induced functions. Blood 81, 2735–2743.

    PubMed  CAS  Google Scholar 

  12. Coates, T. D., Torkildson, J. C., Torres, M., Church, J. A., and Howard, T. H. (1991) An inherited defect of neutrophil motility and microfilamentous cytoskeleton associated with abnormalities in 47-Kd and 89-Kd proteins. Blood 78, 1338–1346.

    PubMed  CAS  Google Scholar 

  13. Howard, T., Li, Y., Torres, M., Guerrero, A., and Coates, T. (1994) The 47-kD protein increased in neutrophil actin dysfunction with 47-and 89-kD protein abnormalities is lymphocyte-specific protein. Blood 83, 231–241.

    PubMed  CAS  Google Scholar 

  14. Nunoi, H., Yamazaki, T., Tsuchiya, H., et al. (1999) A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. Proc. Natl. Acad. Sci. USA 96, 8693–8698.

    Article  PubMed  CAS  Google Scholar 

  15. Van Dyke, T. E. and Vaikuntam, J. (1994) Neutrophil function and dysfunction in periodontal disease. Curr. Opin. Periodontol. 19–27.

    Google Scholar 

  16. De Nardin, E. (1996) The molecular basis for neutrophil dysfunction in early-onset periodontitis. J. Periodontol. 67, 345–354.

    Google Scholar 

  17. Grimbacher, B., Holland, S. M., Gallin, J. I., et al. (1999) Hyper-IgE syndrome with recurrent infections—an autosomal dominant multisystem disorder [see comments]. N. Engl. J. Med. 340, 692–702.

    Article  PubMed  CAS  Google Scholar 

  18. Grimbacher, B., Holland, S. M., and Puck, J. M. (2005) Hyper-IgE syndromes. Immunol. Rev. 203, 244–250.

    Article  PubMed  CAS  Google Scholar 

  19. Koenig, J. M. and Yoder, M. C. (2004) Neonatal neutrophils: the good, the bad, and the ugly. Clin. Perinatol. 31, 39–51.

    Article  PubMed  Google Scholar 

  20. Hill, H. R. (1987) Biochemical, structural, and functional abnormalities of polymorphonuclear leukocytes in the neonate. Pediatr. Res. 22, 375–382.

    Article  PubMed  CAS  Google Scholar 

  21. Huizing, M., Anikster, Y., and Gahl, W. A. (2001) Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Thromb. Haemost. 86, 233–245.

    PubMed  CAS  Google Scholar 

  22. Ward, D. M., Shiflett, S. L., and Kaplan, J. (2002) Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. Curr. Mol. Med. 2, 469–477.

    Article  PubMed  CAS  Google Scholar 

  23. Boxer, L. A. and Smolen, J. E. (1988) Neutrophil granule constituents and their release in health and disease. Hematol. Oncol. Clin. North Am. 2, 101–135.

    PubMed  CAS  Google Scholar 

  24. Gallin, J. I. (1985) Neutrophil specific granule deficiency. Annu. Rev. Med. 36, 263–274.

    Article  PubMed  CAS  Google Scholar 

  25. Lekstrom-Himes, J. A., Dorman, S. E., Kopar, P., Holland, S. M., and Gallin, J. I. (1999) Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. J. Exp. Med. 189, 1847–1852.

    Article  PubMed  CAS  Google Scholar 

  26. Gombart, A. F. and Koeffler, H. P. (2002) Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). Curr. Opin. Hematol. 9, 36–42.

    Article  PubMed  Google Scholar 

  27. Heyworth, P. G., Cross, A. R., and Curnutte, J. T. (2003) Chronic granulomatous disease. Curr. Opin. Immunol. 15, 578–584.

    Article  PubMed  CAS  Google Scholar 

  28. Roesler, J., Curnutte, J. T., Rae, J., et al. (2000) Recombination events between the p47phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. Blood 95, 2150–2156.

    PubMed  CAS  Google Scholar 

  29. Vowells, S. J., Fleisher, T. A., Sekhsaria, S., Alling, D. W., Maguire, T. E., and Malech, H. L. (1996) Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease. J. Pediatr. 128, 104–107.

    Article  PubMed  CAS  Google Scholar 

  30. Foster, C. B., Lehrnbecher, T., Mol, F., et al. (1998) Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease. J. Clin. Invest. 102, 2146–2155.

    Article  PubMed  CAS  Google Scholar 

  31. Vowells, S. J., Sekhsaria, S., Malech, H. L., Shalit, M., and Fleisher, T. A. (1995) Flow cytometric analysis of the granulocyte respiratory burst: a comparison study of fluorescent probes. J. Immunol. Meth. 178, 89–97.

    Article  CAS  Google Scholar 

  32. Gallin, J. I., Alling, D. W., Malech, H. L., et al. (2003) Itraconazole to prevent fun-gal infections in chronic granulomatous disease. N. Engl. J. Med. 348, 2416–2422.

    Article  PubMed  CAS  Google Scholar 

  33. Marciano, B. E., Wesley, R., De Carlo, E. S., et al. (2004) Long-term interferon-gamma therapy for patients with chronic granulomatous disease. Clin. Infect. Dis. 39, 692–699.

    Article  PubMed  CAS  Google Scholar 

  34. The International Chronic Granulomatous Disease Cooperative Study Group. (1991) A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. N. Engl. J. Med. 324, 509–516.

    Article  Google Scholar 

  35. Horwitz, M. E., Barrett, A. J., Brown, M. R., et al. (2001) Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft. N. Engl. J. Med. 344, 881–888.

    Article  PubMed  CAS  Google Scholar 

  36. Seger, R. A., Gungor, T., Belohradsky, B. H., et al. (2002) Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985–2000. Blood 100, 4344–4350.

    Article  PubMed  CAS  Google Scholar 

  37. Nauseef, W. M. (1998) Insights into myeloperoxidase biosynthesis from its inherited deficiency. J. Mol. Med. 76, 661–668.

    Article  PubMed  CAS  Google Scholar 

  38. Beutler, E. (1994) G6PD deficiency. Blood 84, 3613–3636.

    PubMed  CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. Herman B Wells Center for Pediatric Research, Department of Pediatrics (Hematology/Oncology), Microbiology/Immunology, and Medical and Molecular Genetics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN

    Mary C. Dinauer

Authors
  1. Mary C. Dinauer
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Editor information

Editors and Affiliations

  1. Deparment of Veterinary Molecular Biology, Montana State University, Bozeman, MT

    Mark T. Quinn

  2. Laboratory of Human Bacterial Pathogenesis, Rocky Mountain Laboratories, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Hamilton, MT

    Frank R. DeLeo

  3. Departments of Immunology and Cell Biology, The Scripps Institute, La Jolla, CA

    Gary M. Bokoch

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© 2007 Humana Press Inc., Totowa, NJ

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Dinauer, M.C. (2007). Disorders of Neutrophil Function. In: Quinn, M.T., DeLeo, F.R., Bokoch, G.M. (eds) Neutrophil Methods and Protocols. Methods in Molecular Biology™, vol 412. Humana Press. https://doi.org/10.1007/978-1-59745-467-4_30

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  • DOI: https://doi.org/10.1007/978-1-59745-467-4_30

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-788-4

  • Online ISBN: 978-1-59745-467-4

  • eBook Packages: Springer Protocols

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