Defects of granulopoiesis in patients with severe congenital neutropenia

Hiroshima Journal of Medical Sciences

Volumn 51, Issue 3, 2002, Pages 63-74

  Nakamura, Kazuhiro ^a   Kobayashi, Masao ^b   Konishi, Nakao ^a   Kawaguchi, Hiroshi ^a   Miyagawa, Shin Ichiro ^a   Sato, Takashi ^a   Katoh, Osamu ^b   Ueda, Kazuhiro ^a  

^a HIROSHIMA UNIV SCHOOL OF MEDICINE   (Japan)

^b HIROSHIMA UNIVERSITY   (Japan)

Author keywords

Fluorescence activated cell sorting; Granulocyte colony stimulating factor; Granulocyte colony stimulating factor receptor; Severe congenital neutropenia

Indexed keywords

CD34 ANTIGEN; DNA; GRANULOCYTE COLONY STIMULATING FACTOR; GRANULOCYTE COLONY STIMULATING FACTOR RECEPTOR; ONCOPROTEIN; STEM CELL FACTOR RECEPTOR;

ARTICLE; CASE REPORT; CLONOGENIC ASSAY; DRUG EFFECT; FEMALE; GENETICS; GRANULOCYTE; HEMATOPOIETIC STEM CELL; HUMAN; IN VITRO STUDY; INFANT; MALE; METABOLISM; MYELOPOIESIS; NEUTROPENIA; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ANTIGENS, CD34; BASE SEQUENCE; COLONY-FORMING UNITS ASSAY; DNA; FEMALE; GRANULOCYTE COLONY-STIMULATING FACTOR; GRANULOCYTES; HEMATOPOIETIC STEM CELLS; HUMANS; INFANT; MALE; MYELOPOIESIS; NEUTROPENIA; ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-KIT; RECEPTORS, GRANULOCYTE COLONY-STIMULATING FACTOR;

EID: 0036727781     PISSN: 00182052     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (60)

1. Aprikyan, A.G., Liles, C.W. and Dale, D.C. 2000. Emerging role of apoptosis in the pathogenesis of severe neutropenia. Curr. Opin. Hematol. 7: 131-132.
2. Aprikyan, A.G., Liles, C.W., Rodger, E., Chi, E.Y. and Dale, D.C. 2001. Impaired survival of bone marrrow hematopoietic progenitor cells in cyclic neutropenia. Blood 97: 147-153.
3. Avalos, B.R. 1996. Molecular analysis of the granulocyte colony-stimulating factor receptor. Blood 88: 761-777.
4. Bonilla, M.A., Dale, D.C., Zeidler, C., Last, L., Reiter, A., Ruggeiro, M., Davis, M., Koci, B., Hammond, W. and Gillio, A. 1993. Long-term safety of treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) in patients with severe congenital neutropenias. Br. J. Haematol. 88: 723-730.
5. Bonilla, M.A., Gillio, A.P., Ruggeiro, M., Kernan, N.A., Brochstein, J.A., Abboud, M., Fumagalli, L., Vincent, M., Gabri, J.L., Welte, K., Souza, L.M. and O'Reilly, R.J. 1989. Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. N. Engl. J. Med. 320: 1574-1580.
6. Dale, D.C., Bonilla, M.A., Davis, M.W., Nakanishi, A.M., Hammond, W.P., Kurtzberg, J., Wang, W., Jakubowski, A., Winton, E. and Lalezari, P. 1993. A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (Filgrastim) for treatment of SCN. Blood 81: 2496-2502.
7. Dale, D.C., Person, R.E., Bolyard, A.A., Aprikyan, A.G., Bos, C., Bonilla, M.A., Boxer, L.A., Kannourakis, G., Zeidler, C., Weite, K., Benson, F. and Horwitz, M. 2000. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 96: 2317-2322.
8. Demetri, G.D. and Griffin, J.D. 1991. Granulocyte colony-stimulating factor and its receptor. Blood 78: 2791-2808.
9. Dong, F., Brynes, R.K., Tidow, N., Weite, K., Löwenberg, B. and Touw, I.P. 1995. Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. N. Engl. J. Med. 333: 487-493.
10. Dong, F., Dale, D.C., Bonilla, M.A., Freedman, M., Fasth, A., Neijens, H.J., Palmblad, J., Briars, G.L., Carlsson, G., Veerman, A.J., Weite, K., Lowenberg, B. and Touw, I.P. 1997. Mutations in the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. Leukemia 11: 120-125.
11. Dong, F., Hoefsloot, L.H., Schelen, A.M., Broeders, L.C.A.M., Meijer, Y., Veerman, A.J.P., Touw, I.P. and Lowenberg, B. 1994. Identification of a nonsense mutation in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia. Proc. Natl. Acad. Sci. USA. 91: 4480-4484.
12. Dong, F., van Buitenen, C., Pouwels, K., Hoefsloot, L.H., Löwenberg, B. and Touw, I.P. 1993. Distinct cytoplasmic regions of the human granulocyte colony stimulating factor receptor involved in induction of proliferation and maturation. Mol. Cell. Biol. 13: 7774-7781.
13. Freedman, M.H. 1997. Safety of long-term administration of granulocyte colony-stimulating factor for severe chronic neutropenia. Curr. Opin. Hematol. 4: 217-224.
14. Gabbianelli, M., Pelosi, E., Montesoro, E., Valtieri, M., Luchetti, L., Samoggia, P., Vitelli, L., Barberi, T., Testa, U. and Lyman, S. 1995. Multi level effects of flt3 ligand on human hematopoiesis: Expansion of putative stem cells and proliferation of granulomonocyticprogenitors/ monocytic precursors. Blood 86: 1661-1670.
15. Glader, B.E., Guinan, E., Lipton, J.M. and Boxer, L.A. 1998. Congenital bone marrow failure syndromes: Diagnosis and therapeutic strategies, p. 384-403. In J.R. McArthur, G.P. Schechter and S.L. Schrier (eds.), American Society of Hematology Education Program Book. American Society of Hematology, Washington DC.
16. Guba, S.C., Sartor, C.A., Hutchingson, R., Boxer, L.A. and Emerson, S.G. 1994. Granulocyte colony-stimulating factor (G-CSF) production and G-CSF receptor expression in patients with severe congenital neutropenia. Blood 83: 1486-1492.
17. Herbst, A., Koester, M., Wirth, D., Hauser, H. and Welte, K. 1999. G-CSF receptor mutations in patients with severe congenital neutropenia do not abrogate Jak2 activation and statl/stat3 translocation. Ann. NY. Acad. Sci. 872: 320-327.
18. Hermans, M.H., Antonissen, C., Ward, A.C., Mayen, A.E., Ploemacher, R.E. and Touw, I.P. 1999. Sustained receptor activation and hyperproliferation in response to granulocyte colony-stimu-lating factor (G-CSF) in mice with a severe congenital neutropenia/acute myeloid leukemia-derived mutation in the G-CSF receptor gene. J. Exp. Med. 189: 683-692.
19. Hermans, M.H., Ward, A.C., Antonissen, C., Karis, A., Löwenberg, B. and Touw, I.P. 1998. Perturbed granulopoiesis in mice with a targeted mutation in the granulocyte colony-stimulating factor receptor gene associated with severe chronic neutropenia. Blood 92: 32-39.
20. Hestdal, K., Welte, K., Lie, S.O., Keller, J.R., Ruscetti, F.W. and Abrahamsen, T.G. 1993. Severe congenital neutropenia: abnormal growth and differentiation of myeloid progenitors to granulocyte colony-stimulating factor (G-CSF) but normal response to G-CSF plus stem cell factor. Blood 82: 2991-2997.
21. Horwitz, M., Benson, K.F., Person, R.E., Aprikyan, A.G. and Dale, D.C. 1999. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat. Genet. 23: 433-436.
22. Hunter, M.G. and Avalos, B.R. 1999. Deletion of a critical internalization domain in the G-CSFR in acute myelogenous leukemia preceded by severe congenital neutropenia. Blood 93: 440-446.
23. Imashuku, S., Tsuchida, M., Sasaki, M., Shimokawa, T., Nakamura, H., Matsuyama, T., Taniguchi, N., Oda, M., Higuchi, S., Ishimoto, K., Kobayashi, M., Ueda, K., Tsukimoto, I. and Hanawa, Y. 1992. Recombinant human granulocyte colony stimulating factor in the treatment of patients with chronic benign neutropenia and congenital agranulocytosis (Kostmann's syndrome). Acta Paediatrica. 81: 133-136.
24. Jones, E.A., Bolyard, A.A. and Dale, D.C. 1993. Quality of life of patients with severe chronic neutropenia receiving long-term treatment with granulocyte colony-stimulating factor. JAMA 270: 1132-1133.
25. Kalra, R., Dale, D., Freedman, M., Bonilla, M.A., Weinblatt, M., Ganser, A., Bowman, P., Abish, S., Priest, J. and Oseas, R.S. 1995. Monosomy 7 and activating RAS mutations accompany malignant transformation in patients with congenital neutropenia. Blood 86: 4579-4586.
26. Kawaguchi, Y., Kobayashi, M., Tanabe, A., Hara, M., Nishi, Y., Usui, T., Nagai, S., Nishibayashi, Y., Nagao, K. and Yokoro, K. 1985. Granulopoiesis in patients with congenital neutropenia. Am. J. Hematol. 20: 223-234.
27. Kawashima, I., Zanjani, E.D., Almaida-Porada, G., Flake, A.W., Zeng, H. and Ogawa, M. 1996. CD34+ human marrow cells that express low levels of Kit protein are enriched for long-term marrow-engrafting cells. Blood 87: 4136-4142.
28. Kobayashi, M., Ueda, K., Kojima, S., Nishihira, H., Ishiguro, A., Shimbo, T. and Nakahata, T. 1999. Serum granulocyte colony-stimulating factor levels in patients with chronic neutropenia of childhood: modulation of G-CSF levels by myeloid precursor cell mass. Br. J. Haematol. 105: 486-490.
29. Kobayashi, M., Laver, J., Kato, T., Miyazaki, H. and Ogawa, M. 1996. Thrombopoietin supports proliferation of human primitive hematopoietic cells in synergy with steel factor and/or interleukin-3. Blood 88: 429-436.
30. Kobayashi, M., Laver, J., Kato, T., Miyazaki, H. and Ogawa, M. 1997. Thrombopoietin, steel factor and the ligand for flt3/flk2 interact to stimulate the proliferation of human hematopoietic progenitors in culture. Int. J. Hematol. 66: 423-434.
31. Kobayashi, M., Yumiba, C., Kawaguchi, Y., Tanaka, Y., Ueda, K., Komazawa, Y. and Okada, K. 1990. Abnormal responses of myeloid progenitor cells to recombinant human colony-stimulating factors in congenital neutropenia. Blood 75: 2143-2149.
32. Konishi, N., Kobayashi, M., Miyagawa, S., Sato, T., Katoh, O. and Ueda, K. 1999. Defective proliferation of primitive myeloid progenitor cells in patients with severe congenital neutropenia. Blood 94: 4077-4083.
33. Kostmann, R. 1956. Infantile genetic agranulocytosis: A new recessive lethal disease in man. Acta Paediatr. Scand. 105: 1-78.
34. Kostmann, R. 1975. Infantile genetic agranulocytosis: A review with presentation of ten new cases. Acta Paediatr. Scand. 64: 362-368.
35. Kyas, U., Pietsch, T. and Weite, K. 1992. Expression of receptors for granulocyte colony-stimulating factor on neutrophils from patients with severe congenital neutropenia and cyclic neutropenia. Blood 79: 1144-1147.
36. Leary, A.G., Yang, Y-C., Clark, S.C., Gasson, J.C., Golde, D.W. and Ogawa, M. 1987. Recombinant gibbon interleukin-3 supports formation of human multilineage colonies and blast cell colonies in culture: Comparison with recombinant human granulocyte-macrophage colony-stimulating factor. Blood 70: 1343-1348.
37. Lieschke, G.J., Grail, D., Hodgson, D., Metcalf, D., Stanley, E., Cheers, C., Fowler, K. J., Basu, S., Zhan, Y.F. and Dunnet, A.R. 1994. Mice lacking granulocyte colony stimulating factor have chronic neutropenia, granulocyte and macrophage progenitor cell deficiency, and impaired neutrophil mobilization. Blood 84: 1737-1746.
38. Liu, F., Wu, H.Y., Wesselschmidt, R., Kornaga, T. and Link, D.C. 1996. Impaired production and increased apoptosis of neutrophils in granulocyte colony stimulating factor receptor deficient mice. Immunity 5: 491-501.
39. McLemore, M.L., Poursine-Laurent, J. and Link, D.C. 1998. Increased granulocyte colony-stimulating factor responsiveness but normal resting granulopoiesis in mice carrying a targeted granulocyte colony-stimulating factor receptor mutation derived from a patient with severe congenital neutropenia. J. Clin. Invest. 102: 483-492.
40. Mempel, K., Pietsch, T., Menzel, T., Zeidler, C. and Weite, K. 1991. Increased serum levels of granulocyte colony-stimulating factor in patients with severe congenital neutropenia. Blood 77: 1919-1922.
41. Metcalf, D. 1991. Control of granulocytes and macrophages; Molecular, cellular, and clinical aspects. Science 254: 529-533.
42. Nakamura, K., Kobayashi, M., Konishi, N., Kawaguchi, H., Miyagawa, S., Sato, T., Toyoda, H., Komada, Y., Kojima, S., Katoh, O. and Ueda, K. 2000. Abnormalities of primitive myeloid progenitor cells expressing granulocyte colony-stimulating factor receptor in patients with severe congenital neutropenia. Blood 96: 4366-4369.
43. Ogawa, M. 1993. Differentiation and proliferation of hematopoietic stem cells. Blood 81: 2844-2853.
44. Osawa, M., Hanada, K., Hamada, H. and Nakauchi, H. 1996. Long-term lymphohematopoietic reconstitution by a single CD. 34-low/negative hematopoietic stem cell. Science 273: 242-245.
45. Pietsch, T., Buhrer, C., Mempel, K., Menzel, T., Steffens, U., Schrader, C., Santos, F., Zeidler, C. and Welte, K. 1991. Blood mononuclear cells from patients with severe congenital neutropenia are capable of producing granulocyte colony-stimulating factor. Blood 77: 1234-1237.
46. Rauprich, P., Kasper, B., Tidow, N. and Welte, K. 1995. The protein tyrosine kinase JAK2 is activated in neutrophils from patients with severe congenital neutropenia. Blood 86: 4500-4505.
47. Rusten, L.S., Lyman, S.D., Veiby, O.P. and Jacobsen, S.E. 1996. The FLT3 ligand is a direct and potent stimulator of the growth of primitive and committed human CD34+ bone marrow progenitor cells in vitro. Blood 87: 1317-1325.
48. Sandoval, C., Parganas, E., Wang, W., Ihle, J.N. and Adams-Graves, P. 1995. Lack of alterations in the cytoplasmic domains of the granulocyte colony-stimulating factor receptors in eight cases of severe congenital neutropenia [letter]. Blood 85: 852-853.
49. Satoh, T., Kobayashi, M., Kaneda, M., Tanihiro, M., Okada, K. and Ueda, K. 1994. Genotypical classification of neutrophil Fcγ receptor III by polymerase chain reaction-single-strand conformation polymorphism. Blood 83: 3312-3315.
50. Sato, T., Laver, J.H. and Ogawa, M. 1999. Reversible expression of CD34 by murine hematopoietic stem cells. Blood 94: 2548-2554.
51. Sonoda, Y. and Ogawa, M. 1988. Serum-free culture of human hemopoietic progenitors in attenuated cuture media. Am. J. Hematol. 28: 227-231.
52. Tidow, N., Kasper, B. and Weite, K. 1999. SH2-containing protein tyrosine phosphatases SHP-1 and SHP-2 are dramatically increased at the protein level in neutrophils from patients with severe congenital neutropenia (Kostmann's syndrome). Exp. Hematol. 27: 1038-1045.
53. Tidow, N., Pilz, C., Teichmann, B., Müler-Brechlin, A., Germeshausen, M., Kasper, B., Rauprich, P., Sykora, K.-W. and Welte, K. 1997. Clinical relevance of point mutations in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. Blood 89: 2369-2375.
54. Ward, A.C., van Aesch, Y.M., Gits, J., Schelen, A.M., de Koning, J.P., van Leeuwen, D., Freedman, M.H. and Touw, I.P. 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.
55. Ward, A.C., van Aesch, Y.M., Schelen, A.M. and Touw, I.P. 1999. Defective internalization and sustained activation of truncated granulocyte colony-stimulating factor receptor found in severe congenital neutropenia/acute myeloid leukemia. Blood 93: 447-458.
56. Welte, K. and Boxer, L.A. 1997. Severe chronic neutropenia: pathophysiology and therapy. Semin Hematol. 34: 267-278.
57. Welte, K. and Dale, D. 1996. Pathophysiology and treatment of severe chronic neutropenia. Ann. Hematol. 72: 158-165.
58. Welte, K., Gabrilove, J., Bronchud, M.H., Platzer, E. and Morstyn, G. 1996. Filgrastim (r-metHuG-CSF): the first 10 years. Blood 88: 1907-1929.
59. Welte, K., Zeidler, C., Reiter, A., Muller, W., Odenwald, E., Souza, L. and Riehm, H. 1990. Differential effects of granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia. Blood 75: 1056-1061.
60. Zanjani, E.D., Almeida-Porada, G., Livingston, A.G., Flake, A.W. and Ogawa, M. 1998. Human bone marrow CD34 cells engraft in vivo and undergo multilineage expression that includes giving rise to CD34+ cells. Exp. Hematol. 26: 353-360.