Clinical symptoms and neutropenia: The balance of neutrophil development, functional activity, and cell death

European Journal of Pediatrics, Supplement

Volumn 161, Issue 1, 2002, Pages

  Kuijpers, Taco W ^a  

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

Functional defects; Glycogen storage disease type Ib; Neutropenia; Neutrophils

Indexed keywords

GROWTH FACTOR RECEPTOR;

CELL ACTIVITY; CELL DEATH; CELL FUNCTION; CELL MATURATION; CLINICAL FEATURE; CONFERENCE PAPER; DISEASE SEVERITY; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; NEUTROPENIA; NEUTROPHIL; NONHUMAN; PHAGOCYTOSIS; PRIORITY JOURNAL; SHWACHMAN SYNDROME;

EID: 0036390103     PISSN: 09439676     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf02680000     Document Type: Conference Paper

References (45)

1. Adams JM, Cory S (1998) The Bcl-2 protein family; arbiters of cell survival. Science 281: 1322-1326
2. Ambruso DR, Knall C, Abell AN, Panepinto J, Kurkchubasche A, Thurman G, Gonzalez-Aller C, Hiester A, de Boer M, Harbeck RJ, Oyer R, Johnson GL, Roos D (2000) Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc Natl Acad Sci U S A 97: 4654-4659
3. Anderson KL, Smith KA, Pio F, Torbett BE, Maki RA (1998) Neutrophils deficient in PU.1 do not terminally differentiate or become functionally competent. Blood 92: 1576-1585
4. Aprikyan AA, Liles WC, Park JR, Jonas M, Chi EY, Dale DC (2000) Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors. Blood 95: 320-327
5. Baggiolini M, Walz, A, Kunkel SL (1989) Neutrophil-activating peptides/interleukin-8: a novel cytokine that activates neutrophils. J Clin Invest 84: 1045-1049
6. Belaaouaj A, McCarthy R, Baumann M et al (1998) Mice lacking neutrophil elastase reveal impaired host defense against gram negative bacterial sepsis. Nat Med 4: 615-618
7. Betsuyaki T, Liu F, Senior RM, Haug JS, Brown EJ, Jones SL, Matsushima K, Link DC (1999) A functional granulocyte colony-stimulating factor is required for normal chemoattractant-induced neutrophil activation. J Clin Invest 103: 825-832
8. Bishop AL, Hall A (2000) Rho GTPases and their effector proteins. Biochem J 348: 241-255
9. Bokoch GM (1996) Chemoattractant signalling and leukocyte activation. Blood 86: 1649-1660
10. Brach MA, de Vos S, Gruss HJ, Herrmann F (1992) Prolongation of survival of human polymorphonuclear neutrophils by granulocyte-macrophage colony-stimulating factor is caused by inhibition of programmed cell death. Blood 80: 2920-2924
11. Bux J, Behrens G, Jaeger G, Welte K (1998) Diagnosis and clinical course of autoimmune neutropenia in infancy: analysis of 240 cases. Blood 91: 181-186
12. Calderwood S, Kilpatrick L, Douglas SD, Freedman M, Smith-Whitley K, Rolland M, Kurtzberg J (2001) Recombinant human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b. Blood 97: 376-382
13. Dale DC, Person RE, Boylard AA, Aprikan AG et al (2000) Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 96: 2317-2322
14. Dibbert B, Weber M, Nikolaizik WH, Vogt P, Schoni MH, Blaser K, Simon HU (1999) Cytokine-mediated Bax deficiency and consequent delayed neutrophil apoptosis: a general mechanism to accumulate effector cells in inflammation. Proc Natl Acad Sci U S A 96: 13330-13335
15. Dong F, Dale DC, Bonilla MA, Freedman M et al (1997) Mutations in the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. Leukemia 11: 120-125
16. Dror Y, Freedman M (1999) Shwachman-Diamond syndrome: an inherited preleukemic bone marrow failure syndrome with aberrant hematopoietic progenitors and faulty marrow microenvironment. Blood 94: 3048-3054
17. Giles KM, Hart SP, Haslett C, Rossi AG, Dransfield I (2000) An appetite for apoptotic cells? Controversies and challenges. Br J Haematol 109: 1-12
18. Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, Freedman M, Heitlinger LA, Belt MA, Corey M, Rommens JM, Durie PR (1999) Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 135: 81-88
19. Gorlin RJ, Gelb B, Diaz GA, Lofsness KG, Pittelkow MR, Fenyk JR Jr (2000) WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. Am J Med Genet 91: 368-376
20. Gross A, McDonnell JA, Korsmeyer SJ (1999) Bcl-2 family members and the mitochondria in apoptosis. Genes Dev 13: 1899-1911
21. Horwitz, M, Benson KF, Person RE, Aprikyan AG, Dale DC(1999) Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet 23: 433-436
22. Kasper B, Tidow N, Grothues D, Welte K (2000) Differential expression and regulation of GTPases (RhoA and Rac2) and GDIs (LyGDI and RhoGDI) in neutrophils from patients with severe congenital neutropenia. Blood 95: 2947-2953
23. Kothakota S, Azuma T, Reinhard C, Klippel A, Tang J, Chu K, McGarry TJ, Kirschner KW, Koths K, Kwiatkowski DJ, Williams LT (1997) Caspase-3-generated fragment of gelsolin: effector of morphological change in apoptosis. Science 278: 294-298
24. Kuijpers TW, Hakkert BC, Hart MHL, Roos D (1992) Neutrophil migration across monolayers of cytokine-prestimulated endothelial cells: a role for platelet-activating factor and IL-8. J Cell Biol 117: 565-572
25. Kuijpers TW, de Haas M, de Groot CJ, von dem Borne AE, Weening RS (1996) The use of rhG-CSF in chronic autoimmune neutropenia: reversal of autoimmune phenomena, a case history. Br J Haematol 94: 464-469
26. Kuijpers TW, Weening RS, Roos D (1999) Laboratory workup for neutrophil dysfunctions: numerical and functional defects. J Immunol Methods 232: 211-229
27. Leavey PJ, Sellins KS, Thurman G, Elzi D, Hiester A, Silliman CC, Zerbe G, Cohen JJ, Ambruso DR (1998) In vivo treatment with granulocyte colony-stimulating factor results in divergent effects on neutrophil functions measured in vitro. Blood 92: 4366-4374
28. Lekstrom-Himes JA, Dorman SE, Kopar P, Holland SM, Gallin JI (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
29. Lenny N, Westendorf JJ, Hiebert SW (1997) Transcriptional regulation during myelopoiesis. Mol Biol Rep 24: 157-168
30. Liu F, Wu HF, Wesselschmidt R, Kornaga T, Link DC (1996) Impaired production and increased apoptosis of neutrophils in granulocyte colony-stimulating factor receptor-deficient mice. Immunity 5: 491-501
31. Maianski NA, Mul FPJ, van Buul JD, Roos D, Kuijpers TW (2002) Granulocyte Colony-Stimulating factor (G-CSF) inhibits in neutrophils the mitochondria-dependent activation of Caspase-3. Blood 99: 672-679
32. Malech HL, Nauseef WM (1997) Primary inherited defects in neutrophil function: etiology and treatment. Semin Hematol 34: 279-290
33. McCawley LJ, Korchak HM, Douglas SD, Campbell DE, Thornton PS, Stanley CA, Baker L, Kilpatrick L (1994) In vitro and in vivo effects of granulocyte colony-stimulating factor on neutrophils in glycogen storage disease type 1B: granulocyte colony-stimulating factor therapy corrects the neutropenia and the defects in respiratory burst activity and Ca2+ mobilization. Pediatr Res 35: 84-90
34. Murdoch C, Finn A (2000). Chemokine receptors and their role in inflammation and infectious diseases. Blood 95: 3032-3043
35. Roos D, Kuijpers TW, Mascart-Lemone F, Koenderman L, de Boer M, van Zwieten R, Verhoeven AJ (1993) Severe neutrophil dysfunction caused by a defect in signal transduction. Blood 81: 2735-2740
36. Sallusto F, Mackay CR, Lanzavecchia A (2000) The role of chemokine receptors in primary, effector, and memory immune responses. Annu Rev Immunol 18: 593-620
37. Springer TA (1994) Traffic signals for lymphocyte recirculation and leukocyte emigration: the multistep paradigm. Cell 76: 301-314
38. Thornberry NA, Lazebnik Y (1998) Caspases: enemies within. Science 281: 1312-1316
39. Van de Winkel JGJ, Capel PJA (1996) Human IgG Fc receptors. Landes, Austin
40. Van den Berg JM, Weyer S, Weening JJ, Roos D, Kuijpers TW (2001) Divergent effects of tumor necrosis factor-alpha on apoptosis of human neutrophils. J Leukoc Biol 69: 467-473
41. Veiga-da-Cunha M, Gerin I, Van Schaftingen E (2000) How many forms of glycogen storage disease type I? Eur J Pediatr 159: 314-318
42. Ward AC, van Aesch YM, Gits J, Schelen AM, de Koning JP, van Leeuwen D, Freedman MH, Touw IP (1999) Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment. J Exp Med 190: 497-507
43. L- and Bax-α-mediated regulation of apoptosis of human neutrophils via caspase-3. Blood 99: 3106-3115
44. Zeidler C, Boxer L, Dale DC, Freedman M, Kinsey S, Welte K (2000) Management of Kostmann syndrome in the G-CSF era. Br J Haematol 109: 490-495
45. Zhang P, Iwama A, Datta MW, Darlington GJ, Link DC, Tenen DG (1998). Upregulation of interleukin 6 and granulocyte colony-stimulating factor receptors by transcription factor CCAAT enhancer binding protein alpha (C/EBP alpha) is critical for granulopoiesis. J Exp Med 188: 1173-1184