Lenfoproliferatif Hastalıklar

Programlanmış hücre ölümü apoptozis immün sistemin homeostazının korunmasında büyük öneme sahiptir. Periferik matür T hücrelerinin antijen cevabının düzenlenmesi ve homeostazının sağlanmasında da apoptozisin rolü olduğu yapılan çalışmalarda gösterilmiştir.

___

  • 1. Leonardo M, Chan FK, Hornung F, et al. Mature lymphocyte apoptosis-immune regulation in a dynamic and unpredictable antigenic enviroment. Annu Rev Immunol 1999; 17:221-53.
  • 2. Strauss S.E., Sneller M, Leonardo M.J. et al. An inherited disorder of lymphocyte apoptosis: The autoimmune lymphoproliferative syndrome. Annals of ‹nternal Med 1999; 130: 591-601.
  • 3. Pan TQ, Atkinson TP, Makris CM, et al. ALPS (autoimmune lymphoproliferative syndrome) associated with a mutation in Fas-Ligand (abstract 48). In: Programs and Abstracts of the 14th Annual Conference on Clinical Immunology and 5th International Symposium on Clinical Immunology. Washington; DC; 1999. p. 442.
  • 4. Wang J, Zheng L, Lobito A, et al. Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome II. Cell 1999; 98:47-58.
  • 5. Jackson CE, Fischer RE, Hsu AP, et al. Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Am J Hum Genet 1999; 64:1002-14.
  • 6. Fisher G.H, Rosenberg F.J., Straus S.E. et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 1995; 81:935-46.
  • 7. ‹nfante A.J, Britton H.A., DeNapoli T., Middelton L.A. et al. The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a fas mutation that impairs lymphocyte apoptosis. J. Pediatr 1998; 133:629-33.
  • 8. Sneller MC, Straus SE, Jaffe ES, et al. A novel autoimmune lymphoproliferative syndrome resembling murine lpr/gld disease. J Clin Invest 1992; 90:334-41.
  • 9. Takahashi T, Tanaka M, Brannan CL, et al. Generalized lymphoproliferative disease in mice, caused by a point mutation in the Fas ligand. Cell 1994;76:969-76.
  • 10. Bleesing J.J, Straus S.E., Fleisher T.A. Autoimmune lymphoproliferative syndrome. A human disorder of abnormal lympocyte. Pediatr Clin North Am 2000; Dec; 47: 1291-310.
  • 11. Watanabe- Fukunaga R, Brannan CI,Copeland NG, et al. Lymphoproliferation disorder in mice explained by defects in fas antigen that mediates apoptosis. Nature 1992; 356:314-7.
  • 12. Behrmann I, Walczak H, Krammer PH. Structure of the human APO-1 gene. Eur J Immunol 1994; 24:3057-362.
  • 13. Martin DA, Zheng L, Siegel RM, et al. Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. Proc Natl Acad Sci USA 1999; 96:4552-7.
  • 14. Rieux-Laucat F, Le Deist, Hivbroz C, et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 1995; 268:1347-9.
  • 15. Sleight BJ, Prasad VS, DeLaat C, et al. Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation. Bone Marrow Transplant 1998; 22:375-80.
  • 16. Van der Burg M, de Groot R, Comans-Bitter WM, et al. Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? Pediatr Res 2000; 47:336-43.
  • 17. Kasahara Y, Wada T, Nida Y, et al. Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder. Int Immunol 1998; 10:195-202.
  • 18. Vaishnaw AK, Toubi E, Ohsako S, et al. The spectrum of apoptotic defects and clinical manifestations , including systemic lupus erythematosus, in humans with CD95 (Fas/APO-1)) mutations. Arthritis Rheum 1999; 42:1833-42.
  • 19. Bader-Meunier B, Rieux-Laucat F, Croisille L, et al. Dyserythropoisesis associated with a Fas deficient condition in childhood. Br J Haematol 2000;108:300-4
  • 20. Hetts SW. To die or not to die: an overview of apoptosis and its role disease. JAMA 1998; 279:300-7.
  • 21. Griffith TS, Brunner T, Fletcher SM, et al. Fas ligand-induced apoptosis as a mechanism of immune privilege. Science 1995; 270:1189-92.
  • 22. Siegel RM, Chan FK, Chum HJ, et al. The multifaceted role of Fas signaling in immune cell homeostasis and autoimmunity. Nat Immunol 2000; 1:1469-74.
  • 23. Sneller MC, Wang J, Dale JK, et al. Clinical, immünologic and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood 1997; 89:1341-8.
  • 24. Bekerrou M, Le Deist F, de Villartay JP, et al. Correction of Fas (CD95) deficiency by haploidentical bone marrow transplantation. Eur J Immunol 1997; 27:2043-7.
  • 25. Chanock SJ, Foster CB. SNPing away at innate immunity. J Clin Invest 1999; 104:369-70.
  • 26. Straus SE, Jaffe ES, Puck JM, et al. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood 2001; 98:194-200.
  • 27. Purtilo DT, Cassel CK, Yang JPS, et al. X-linked recessive progressive combined variable immundeficiency (Duncan's disease). Lancet 1975; 1:935-41.
  • 28. Brandau O, Schuster V, Weiss M, et al. Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP). Hum Mol gen 1999; 8:2407-13.
  • 29. Sumegi J , Huang D, lanyi A, et al. Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood 2000; 96:3118-25.
  • 30. Coffey AJ, Brooksbank RA, Brandau O, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat genet 1998; 20:129-35.
  • 31. Seemayer TA, Gross TG , Egeler RM, et al. X-linked lymphoproliferative disease: twenty-five years after the discovery. Pediatr Res 1995; 38:471-8.
  • 32. Dutz JP, Benoit L, Wang X, et al. Lymphocytic vasculitis in X-linked lymphoproliferative disease. Blood 2001; 97:95-100.
  • 33. Okano M, Pirrucello SJ, Grierson HL, et al. Immunovirological studies of natal infectious mononucleosis in apatient with X-linked lymphoproliferative syndrome treated with intravenous immunoglobulin and interferon-alpha. Clin Immunol Immunopathol 1990; 54:410-8.
  • 34. Amrolia P, Gaspar HB, Hassan A, et al. Nonmyeloablative stem cell transplantation for congenital immunodeficiencies. Blood 2000; 96:1239-46.
  • 35. Grierson H, Purtilo DT. Epstein-Barr virus infection in males with X-linked lymphoproliferative syndrome. Ann Int Med 1987; 106:538-45.
  • 36. Schuster J, Gross TG, Seemayer TA. The molecular genetics Xlinked lymphoproliferative (Duncan's) disease. Cancer J Sci Am 1999; 5:57-62.
  • 37. Harrington DS, Weisenburger DD, Purtilo DT. Malignant lymphoma in the X-linked lymphoproliferative syndrome. Cancer 1987; 59:1419-29.
  • 38. Purtilo DT, Sakamoto K, Barnabei V, et al. Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): update on studies of the registry. Am J Med 1982; 73:49-56.
  • 39. Grierson HL, Skare J, Hawk J, Pauzo M, Purtilo DT. Immunoglobulin class and subclass deficiencies prior to Epstein-Barr virus infection in males with X-linked lymphoproliferative disease. Am J Med Genet 1991; 40:294-7.
  • 40. Purtilo DT, Grierson HL, Ochs H, Skare J. Detection of X-linked lymphoproliferative disease using molecular and immunovirologic markers. Am J Med 1989; 87:421-4.