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Disorders of Neutrophil Function: An Overview

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Neutrophil Methods and Protocols

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1124))

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 the 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 MC, Coates TD (2012) Disorders of phagocyte function. In: Hoffman (ed) Hematology: basic principles and practice. Elsevier, Philadelphia, Pa, pp 655–673

    Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  3. Dale DC et al (2008) The phagocytes: neutrophils and monocytes. Blood 112:935–945

    Article  CAS  PubMed  Google Scholar 

  4. Bouma G et al (2010) Recent advances in the understanding of genetic defects of neutrophil number and function. Br J Haematol 151:312–326

    Article  CAS  PubMed  Google Scholar 

  5. Hanna S, Etzioni A (2012) Leukocyte adhesion deficiencies. Ann N Y Acad Sci 1250:50–55

    Article  CAS  PubMed  Google Scholar 

  6. van de Vijver E et al (2012) Hematologically important mutations: leukocyte adhesion deficiency (first update). Blood Cells Mol Dis 48:53–61

    Article  PubMed  Google Scholar 

  7. Schymeinsky J et al (2007) Neutrophil activation via beta2 integrins (CD11/CD18): molecular mechanisms and clinical implications. Thromb Haemost 98:262–273

    CAS  PubMed  Google Scholar 

  8. Ambruso DR et al (2000) Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc Natl Acad Sci USA 97:4654–4659

    Article  CAS  PubMed  Google Scholar 

  9. Williams DA et al (2000) Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency. Blood 96:1646–1654

    CAS  PubMed  Google Scholar 

  10. Roos D et al (1993) A novel syndrome of severe neutrophil dysfunction: unresponsiveness confined to chemotaxin-induced functions. Blood 81:2735–2743

    CAS  PubMed  Google Scholar 

  11. Coates TD et al (1991) An inherited defect of neutrophil motility and microfilamentous cytoskeleton associated with abnormalities in 47-Kd and 89-Kd proteins. Blood 78:1338–1346

    CAS  PubMed  Google Scholar 

  12. Howard T et al (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

    CAS  PubMed  Google Scholar 

  13. Nunoi 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  CAS  PubMed  Google Scholar 

  14. Van Dyke TE, Vaikuntam J (1994) Neutrophil function and dysfunction in periodontal disease. Curr Opin Periodontol 28:19–27

    Google Scholar 

  15. Oh TJ et al (2002) Periodontal diseases in the child and adolescent. J Clin Periodontol 29:400–410

    Article  PubMed  Google Scholar 

  16. Grimbacher B et al (1999) Hyper-IgE syndrome with recurrent infections: an autosomal dominant multisystem disorder. N Engl J Med 340:692–702

    Article  CAS  PubMed  Google Scholar 

  17. Sowerwine KJ et al (2012) Hyper-IgE syndrome update. Ann N Y Acad Sci 1250:25–32

    Article  CAS  PubMed  Google Scholar 

  18. Zhang Q, Su HC (2011) Hyperimmunoglobulin E syndromes in pediatrics. Curr Opin Pediatr 23:653–658

    Article  PubMed Central  PubMed  Google Scholar 

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

    Article  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  21. Kaplan J et al (2008) Chediak-Higashi syndrome. Curr Opin Hematol 15:22–29

    Article  CAS  PubMed  Google Scholar 

  22. Introne WJ et al (2010) Chediak-Higashi syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) GeneReviews. University of Washington, Seattle, WA

    Google Scholar 

  23. Janka GE (2012) Familial and acquired hemophagocytic lymphohistiocytosis. Annu Rev Med 63:233–246

    Article  CAS  PubMed  Google Scholar 

  24. Gallin JI (1985) Neutrophil specific granule deficiency. Annu Rev Med 36:263–274

    Article  CAS  PubMed  Google Scholar 

  25. Gombart AF, Koeffler HP (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 

  26. Lekstrom-Himes JA et al (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  CAS  PubMed Central  PubMed  Google Scholar 

  27. Dinauer MC (2005) Chronic granulomatous disease and other disorders of phagocyte function. Hematology Am Soc Hematol Educ Program 2005:89–95

    Article  Google Scholar 

  28. Seger RA (2008) Modern management of chronic granulomatous disease. Br J Haematol 140:255–266

    Article  CAS  PubMed  Google Scholar 

  29. Schappi MG et al (2008) Hyperinflammation in chronic granulomatous disease and anti-inflammatory role of the phagocyte NADPH oxidase. Semin Immunopathol 30:255–271

    Article  PubMed  Google Scholar 

  30. Matute JD et al (2009) A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood 114:3309–3315

    Article  CAS  PubMed  Google Scholar 

  31. Kang EM et al (2011) Chronic granulomatous disease: overview and hematopoietic stem cell transplantation. J Allergy Clin Immunol 127:1319–1326

    Article  PubMed Central  PubMed  Google Scholar 

  32. Kuhns DB et al (2010) Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med 363:2600–2610

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  33. Roos D et al (2010) Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood Cells Mol Dis 44:291–299

    Article  CAS  PubMed  Google Scholar 

  34. Roos D et al (2010) Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells Mol Dis 45:246–265

    Article  CAS  PubMed  Google Scholar 

  35. Bustamante J et al (2011) Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat Immunol 12:213–221

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  36. Al Ghouleh I et al (2011) Oxidases and peroxidases in cardiovascular and lung disease: new concepts in reactive oxygen species signaling. Free Radic Biol Med 51:1271–1288

    Article  CAS  PubMed  Google Scholar 

  37. Roesler J et al (2000) Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. Blood 95:2150–2156

    CAS  PubMed  Google Scholar 

  38. Vowells SJ et al (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  CAS  PubMed  Google Scholar 

  39. Foster CB 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  CAS  PubMed Central  PubMed  Google Scholar 

  40. Vowells SJ et al (1995) Flow cytometric analysis of the granulocyte respiratory burst: a comparison study of fluorescent probes. J Immunol Methods 178:89–97

    Article  CAS  PubMed  Google Scholar 

  41. Gallin JI et al (2003) Itraconazole to prevent fungal infections in chronic granulomatous disease. N Engl J Med 348:2416–2422

    Article  CAS  PubMed  Google Scholar 

  42. Marciano BE et al (2004) Long-term interferon-gamma therapy for patients with chronic granulomatous disease. Clin Infect Dis 39:692–699

    Article  CAS  PubMed  Google Scholar 

  43. 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 

  44. Grez M et al (2011) Gene therapy of chronic granulomatous disease: the engraftment dilemma. Mol Ther 19:28–35

    Article  CAS  PubMed  Google Scholar 

  45. Klebanoff SJ et al (2013) Myeloperoxidase: a front-line defender against phagocytosed microorganisms. J Leukoc Biol 93:185–198

    Article  CAS  PubMed  Google Scholar 

  46. Beutler E (1994) G6PD deficiency. Blood 84:3613–3636

    CAS  PubMed  Google Scholar 

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Dinauer, M.C. (2014). Disorders of Neutrophil Function: An Overview . In: Quinn, M., DeLeo, F. (eds) Neutrophil Methods and Protocols. Methods in Molecular Biology, vol 1124. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-845-4_30

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  • DOI: https://doi.org/10.1007/978-1-62703-845-4_30

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  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-62703-844-7

  • Online ISBN: 978-1-62703-845-4

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