Immune pathogenesis of paroxysmal nocturnal hemoglobinuria

International Journal of Hematology

Volumn 84, Issue 2, 2006, Pages 113-117

  Tiu, Ramon ^a   Maciejewski, Jaroslaw ^a  

^a TAUSSIG CANCER INSTITUTE   (United States)

Author keywords

AA; Bone marrow failure; PNH; Stem cells; T cells

Indexed keywords

ANTIGEN; GLYCOSYLPHOSPHATIDYLINOSITOL; IMMUNOSUPPRESSIVE AGENT;

APLASTIC ANEMIA; BONE MARROW DEPRESSION; CELL GROWTH; CELL SELECTION; CELL SURFACE; CLONE; GENE; HEMATOPOIETIC STEM CELL; HUMAN; IMMUNE RESPONSE; IMMUNOMODULATION; IMMUNOPATHOGENESIS; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PATHOPHYSIOLOGY; PIG A GENE; REVIEW; SOMATIC MUTATION; T LYMPHOCYTE; TARGET CELL;

ANEMIA, APLASTIC; ANIMALS; CELL DIFFERENTIATION; GLYCOSYLPHOSPHATIDYLINOSITOLS; HEMATOPOIETIC STEM CELLS; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; MEMBRANE PROTEINS; MUTATION;

EID: 33748425121     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1532/IJH97.06144     Document Type: Review

References (32)

1. Araten DJ, Luzzatto L. The mutation rate in PIG-A is normal in patients with paroxysmal nocturnal hemoglobinuria (PNH). Blood. 2006 Mar 16 [Epub ahead of print].
2. Dacie JV, Lewis SM. Paroxysmal nocturnal haemoglobinuria: variation in clinical severity and association with bone-marrow hypoplasia. Br J Haematol. 1961;7:442-457.
3. Dameshek W. Riddle: what do aplastic anemia, paroxysmal nocturnal hemoglobinuria (PNH) and "hypoplastic" leukemia have in common? Blood. 1967;30(2):251-254.
4. Dacie JV, Lewis SM. Paroxysmal nocturnal haemoglobinuria: clinical manifestations, haematology, and nature of the disease. Ser Haematol. 1972;5(3):3-23.
5. Young NS. The problem of clonality in aplastic anemia: Dr Dameshek's riddle, restated. Blood. 1992;79(6):1385-1392.
6. Luzzatto L. Somatic mutation in paroxysmal nocturnal hemoglobinuria. Hosp Pract (Minneap). 1997;32(9):125-131, 135-136, 139-140.
7. Schrezenmeier H, Hertenstein B, Wagner B, Raghavachar A, Heimpel H. A pathogenetic link between aplastic anemia and paroxysmal nocturnal hemoglobinuria is suggested by a high frequency of aplastic anemia patients with a deficiency of phosphatidylinositol glycan anchored proteins. Exp Hematol. 1995; 23(1):81-87.
8. Erratum in: Exp Hematol. 1995;23(2):181.
9. Dunn DE, Tanawattanacharoen P, Boccuni P, et al. Paroxysmal nocturnal hemoglobinuria cells in patients with bone marrow failure syndromes. Ann Intern Med. 1999;131(6):401-408.
10. Maciejewski JP, Rivera C, Kook H, Dunn D, Young NS. Relationship between bone marrow failure syndromes and the presence of glycophosphatidyl inositol-anchored protein-deficient clones. Br J Haematol. 2001;115(4):1015- 1022.
11. Sugimori C, Chuhjo T, Feng X, et al. Minor population of CD55- CD59-blood cells predicts response to immunosuppressive therapy and prognosis in patients with aplastic anemia. Blood. 2006; 107(4):1308-1314.
12. Araten DJ, Nafa K, Pakdeesuwan K, Luzzatto L. Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. Proc Natl Acad Sci USA. 1999;96(9):5209-5214.
13. Maciejewski JP, Follmann D, Nakamura R, et al. Increased frequency of HLA-DR2 in patients with paroxysmal nocturnal hemoglobinuria and the PNH/aplastic anemia syndrome. Blood. 2001; 98(13):3513-3519.
14. Saunthararajah Y, Nakamura R, Wesley R, Wang QJ, Barrett AJ. A simple method to predict response to immunosuppressive therapy in patients with myelodysplastic syndrome. Blood. 2003;102(8): 3025-3027.
15. Fermo E, Bianchi P, Barcellini W, et al. Immunoregulatory cytokine polymorphisms in Italian patients affected by paroxysmal nocturnal haemoglobinuria and aplastic anaemia. Eur J Immunogenet. 2004;31(6):267-269.
16. Howe EC, Wlodarski M, Ball EJ, Rybicki L, Maciejewski JP. Killer immunoglobulin-like receptor genotype in immune-mediated bone marrow failure syndromes. Exp Hematol. 2005;33(11):1357-1362.
17. Wlodarski MW, Gondek LP, Nearman ZP, Plasilova M, Kalaycio M, Maciejewski JP. Molecular strategies for detection and quantitation of clonal cytotoxic T cell responses in aplastic anemia and myelodys-plastic syndrome. Blood. 2006 Apr 13 [Epub ahead of print].
18. Hanaoka N, Kawaguchi T, Horikawa K, Nagakura S, Mitsuya H, Nakakuma H. Immunoselection by natural killer cells of PIGA mutant cells missing stress-inducible ULBP. Blood. 2006;107(3): 1184-1191.
19. Tichelli A, Gratwohl A, Wursch A, Nissen C, Speck B. Late haematological complications in severe aplastic anaemia. Br J Haematol. 1988;69(3):413-418.
20. de Planque MM, Brand A, Kluin-Nelemans HC, et al. Haematopoietic and immunologic abnormalities in severe aplastic anaemia patients treated with anti-thymocyte globulin. Br J Haematol. 1989; 71(3):421-430.
21. Chen G, Kirby M, Zeng W, Young NS, Maciejewski JP. Superior growth of glycophosphatidy linositol-anchored protein-deficient progenitor cells in vitro is due to the higher apoptotic rate of progenitors with normal phenotype in vivo. Exp Hematol. 2002;30(7): 774-782.
22. Chen G, Zeng W, Maciejewski JP, Kcyvanfar K, Billings EM, Young NS. Differential gene expression in hematopoietic progenitors from paroxysmal nocturnal hemoglobinuria patients reveals an apoptosis/immune response in 'normal' phenotype cells. Leukemia. 2005;19(5):862-868.
23. Nagakura S, Ishihara S, Dunn DE, et al. Decreased susceptibility of leukemic cells with PIG-A mutation to natural killer cells in vitro. Blood. 2002;100(3):1031-1037.
24. Hu R, Mukhina GL, Piantadosi S, Barber JP, Jones RJ, Brodsky RA. PIG-A mutations in normal hematopoiesis. Blood. 2005;105(10): 3848-3854.
25. Ware RE, Nishimura J, Moody MA, Smith C, Rosse WF, Howard TA. The PIG-A mutation and absence of glycosylphosphatidylinositol-linked proteins do not confer resistance to apoptosis in paroxysmal nocturnal hemoglobinuria. Blood. 1998;92(7):2541-2550.
26. Feng X, Chuhjo T, Sugimori C, et al. Diazepam-binding inhibitor-related protein 1: a candidate autoantigen in acquired aplastic anemia patients harboring a minor population of paroxysmal nocturnal hemoglobinuria-type cells. Blood. 2004;104(8):2425-2431.
27. Hirano N, Butler MO, Von Bergwelt-Baildon MS, et al. Autoantibodies frequently detected in patients with aplastic anemia. Blood. 2003;102(13):4567-4575.
28. Takami A, Nakao S, Tatsumi Y, et al. High inducibility of heat shock protein 72 (hsp72) in peripheral blood mononuclear cells of aplastic anaemia patients: a reliable marker of immune-mediated aplastic anaemia responsive to cyclosporine therapy. Br J Haematol. 1999;106(2):377-384.
29. Kook H, Risitano AM, Zeng W, et al. Changes in T-cell receptor VB repertoire in aplastic anemia: effects of different immunosuppressive regimens. Blood. 2002;99(10):3668-3675.
30. Risitano AM, Maciejewski JP, Muranski P, et al. Large granular lymphocyte (LGL)-like clonal expansions in paroxysmal nocturnal hemoglobinuria (PNH) patients. Leukemia. 2005;19(2):217-222.
31. Plasilova M, Risitano AM, O'Keefe CL, et al. Shared and individual specificities of immunodominant cytotoxic T-cell clones in paroxysmal nocturnal hemoglobinuria as determined by molecular analysis. Exp Hematol. 2004;32(3):261-269.
32. Wlodarski MW, Gondek LP, Nearman ZP, Plasilova M, Kalaycio M, Maciejewski JP. Molecular strategies for detection and quantitation of clonal cytotoxic T cell responses in aplastic anemia and myelodys-plastic syndrome. Blood. 2006 Apr 13 [Epub ahead of print].