Siklik Nötropeni ve Konjenital Nötropeni Kostmann Hastalığı

Nötrofiller immünolojik savunmanın önemli bir bileşenini oluşturan fagositik hücrelerdir. Kemik iliğinde çok yönlü kök hücrelerinden türeyen fagosit prokürsörleri , granülosit monosit koloni uyarıcı faktör GM-CSF ve granülosit koloni uyarıcı faktör G-CSF gibi uyarıcılarla, kemik iliğinde prolifere olarak olgun segmente nötrofillere dönüşmektedirler

___

  • 1. Yang D K, Hill H R. Neutrophil function disorders: Pathophysiology, prevention and therapy. Pediatrics 1991; 119:343-53.
  • 2. Howard H T, Watts G R. Advances in pathophysiology, diagnosis and treatment of neutrophil defects. Pediatrics 1992; 4:991-8.
  • 3. Carlsson G, Fasth A. Infantile genetic agranulocytosis, morbus Kostmann: Presentation of six cases from the original ‘’Kostmann family’’ and a review. Acta Pediatr 2001; 90:757-64.
  • 4. Bernini C J. Diagnosis and management of chronic neutropenia during ch›ldhood. Pediatr Clin. North Am. 1996; 43:773-91.
  • 5. Koren A, Cohen H, Shneyour I, et al. Prenatal diagnosis of congenital dysgranulopoietic neutropenia. Br J Hematol 1994; 88: 207-8.
  • 6. Yakisan E, Scbirg E, Zeidler C, et al. High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann’s syndrome). J Pediatrics 1997 ; 131:592-7.
  • 7. Dinauer C M, Lekstrom-Himes A J, Dale C D, et al. Inherited neutrophil disorders: molecular basis and new therapies. Am. Soc. Hematol Educ Program 2000; 303-15.
  • 8. Schiller m, Zeidler C, Bohlu M et al. Cylic neutropenia de tection acuatation in the gene for neutrophil elastase (ELA2). 2001; 52:790-6.
  • 9. Dale D C, Person R E, Bolyard A A et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000; 96: 2317-22 .
  • 10. Ancliff P J, Gale R E, Liesner R et al. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. Blood 2001; 98:2645-50.
  • 12. Laksman R, Finn A. Neutrophil disorders and their management. J Clin. Pathol 2001; 54: 7-19.
  • 13. Dong F, Brynes R K, Tidow N et al. Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukomia preceded by severe congenital neutropenia. New Eng. J. Med1995; 333:487-93.
  • 14. Bonilla M A, Dale D, Zeidler C et al. Long-term safety of treatment with recombinant human granulocyte colonystimulating factor (r-metHuG-CSF) in patients with severe congenital neutropenias. Br. J. Hematol 1994; 88: 723-30.
  • 15. Hermans M H A, Ward A C, Antonissen C et al. Perturbed granulopoiesis in mice with a targeted mutation in the garnulocyte colony- stimulating factor receptor gene associated with severe chronic neutropenia. Blood1998; 92:32-9.
  • 16. L’ Esperance P L, Brunning R, Deinard A S et al. Congenital neutropenia: impaired maturation with diminished stem-cell input. New York:National Foundation- March of Dimes (pub.) 1975;PP. 59-65.
  • 17. Lekstrom-Himes J A, Gallin J L. Immunodeficiency diseases caused by defects in phagocytes. New Eng. J. Med 2000; 343:1703-14.
  • 18. McLemore M L, Poursine-Laurent J, Link D C. 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 1998; 102: 483-92.