Implications of recent insights into the pathophysiology of paroxysmal nocturnal haemoglobinuria

British Journal of Haematology

Volumn 108, Issue 3, 2000, Pages 470-479

  Hillmen, Peter ^a   Richards, Stephen J ^a  

^a LEEDS GENERAL INFIRMARY   (United Kingdom)

Author keywords

Paroxysmal nocturnal haemoglobinuria; Pathophysiology; PIG A; Registry

Indexed keywords

ANTIGEN; CD16 ANTIGEN; CD59 ANTIGEN; COMPLEMENT; DECAY ACCELERATING FACTOR; GLYCOLIPID; GLYCOSYLPHOSPHATIDYLINOSITOL; MONOCLONAL ANTIBODY; N ACETYLGLUCOSAMINE; PHOSPHATIDYLINOSITOL;

AUTOIMMUNITY; CLINICAL FEATURE; FLOW CYTOMETRY; GENE; GENE MUTATION; HUMAN; NONHUMAN; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PRIORITY JOURNAL; REVIEW;

ANEMIA, APLASTIC; ANIMALS; CELL MEMBRANE; COMPLEMENT HEMOLYTIC ACTIVITY ASSAY; DISEASE MODELS, ANIMAL; FLOW CYTOMETRY; GENE THERAPY; GLYCOSYLPHOSPHATIDYLINOSITOLS; HEMATOPOIETIC STEM CELLS; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; MUTATION;

EID: 0034129085     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2000.01802.x     Document Type: Review

References (56)

1. Araten, D., Nafa, K., Pakdeesuwan, K. & Luzzatto, L. (1999) Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. Proceedings of the National Academy of Sciences of the USA, 96, 5209-5214.
2. Armstrong, C., Schubert, J., Ueda, E., Knez, J.J., Gelperin, D., Hirose, S., Silber, R., Hollan, S., Schmidt, R.E. & Medof, M.E. (1992) Affected paroxysmal nocturnal hemoglobinuria T lymphocytes harbour a common defect in assembly of N-acetyl-D-glucosamine inositol phospholipid corresponding to that in class A Thy-1-murine lymphoma mutants. Journal of Biological Chemistry, 267, 25347-25351.
3. Beck, W.S. & Valentine, W.N. (1951) Biochemical studies on leucocytes. II. Phosphatase activity in chronic lymphatic leucemia, acute leucemia and miscellaneous hematologic conditions. Journal of Laboratory Clinical Medicine, 38, 245-253.
4. Bessler, M., Mason, P.J., Hillmen, P., Miyata, T., Yamada, N., Takeda, J., Luzzatto, L. & Kinoshita, T. (1994a) Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. EMBO Journal, 13, 110-117.
5. Bessler, M., Mason, P.J., Hillmen, P. & Luzzatto, L. (1994b) Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria. Lancet, 343, 951-953.
6. Crosby, W.H. (1951) Paroxysmal nocturnal haemoglobinuria: a classic description by Paul Struebing in 1882, and a bibliography of the disease. Blood, 6, 270-284.
7. Dacie, J.V. (1963) Paroxysmal nocturnal haemoglobinuria. Proceedings of the Royal Society of Medicine, 56, 587-596.
8. Dacie, J.V. (1980) Paroxysmal nocturnal haemoglobinuria. Sangre, 25, 890-895.
9. Dominguez, C., Tremml, G., Rosti, V, Cattoretti, G. & Bessler, M. (1998) Defects in hematopoiesis of PNH cells in mice mosaic for a non-functional PIG-A gene. Blood, 92, 1944a.
10. Dunn, P., Shih, L.Y. & Liaw, S.J. (1991) Paroxysmal nocturnal hemoglobinuria: analysis of 40 cases. Journal of Formas Medical Association, 90, 831-835.
11. Ebenbichler, C.F., Wurzner, R., Sandhofer, A.D., Niederwieser, D., Dierich, M.P. & Patsch, J.R. (1996) Anti-thymocyte globulin treatment of a patient for paroxysmal nocturnal haemoglobinuria-aplastic anaemia syndrome: complement activation and transient decrease of the PNH clone. Immunobiology, 196, 51 3-521.
12. Endo, M., Ware, R.E., Vreeke, T.M., Singh, S.P., Howard, T.A., Tomita, A., Holguin, M.H. & Parker, C.J. (1996) Molecular basis of the heterogeneity of expression of glycosyl phosphatidylinositol anchored proteins in paroxysmal nocturnal hemoglobinuria. Blood, 87, 2546-2557.
13. Perguson, M.A. (1992) Glycosyl-phosphatidylinositol membrane anchors: the tail of a tail. Biochemistry Society Transactions, 20, 248-256.
14. Fujioka, S. & Asai, T. (1989) Prognostic features of paroxysmal nocturnal hemoglobinuria in Japan. Nippon Ketsueki Gakkai Zasshi, 52, 1386-1394.
15. Ham, T.H. & Dingle, J.H. (1939) Studies on the destruction of red blood cells. II. Chronic hemolytic anemia with paroxysmal nocturnal hemoglobinuria. Certain immunological aspects of the hemolytic mechanism with special reference to serum complement. Journal of Clinical Investigation, 18, 657-672.
16. Hertenslein, B., Wagner, B., Bunjes, D., Duncker, C., Raghavachar, A., Arnold, R., Heimpel, H. & Schrezenmeier, H. (1995) Emergence of CD52-, phosphatidylinositol-glycan-anchor-deficien T lymphocytes after in vivo application of Campath-1H for refractory B-cell non-Hodgkin's lymphoma. Blood, 86, 1497-1492.
17. Hillmen, P., Bessler, M., Crawford, D.H. & Luzzatto, L. (1993a) Production and characterization of lymphoblastoid cell lines with the paroxysmal nocturnal phenotype. Blood, 81, 193-199.
18. Hillmen, P., Bessler, M., Mason, P.J., Watkins, W.M. & Luzzatto, L. (1993b) Specific defect in N-acetylglucosamine incorporation in the GP1 anchor synthetic pathway in cloned cell lines from patients with paroxysmal nocturnal hemoglobinuria. Proceedings of the National Academy of Sciences of the USA, 90, 5272-5276.
19. Hillmen, P., Lewis, S.M., Bessler, M., Luzzatto, L. & Dacie, J.V. (1995) Natural history of paroxysmal nocturnal hemoglobinuria. New England Journal of Medicine, 333, 1253-1258.
20. Twamoto, N., Kawaguchi, T., Horikawa, K., Nagakura, S., Kagimoto, T., Suda, T., Takatsuki, K. & Nakakuma, H. (1996) Preferential hematopoiesis by paroxysmal nocturnal hemoglobinuria clone engrafted in SCID mice. Blood, 87, 4944-4948.
21. Johnson, R.J., Rawstron, A.C., Morgan, G.J., Norfolk, D.R., O'Connor, S. & Hillmen, P. (1998) Circulating primitive stem cells in paroxysmal nocturnal hemoglobinuria (PNH) are predominantly normal in phenotype but granulocyte colony-stimulating factor treatment mobilises mainly PNH stem cells. Blood, 91, 4504-4508.
22. Kawagoe, K., Kitamura, D., Okabe, M,, Taniuchi, I., Ikawa, M., Watanabe, T., Kinoshita, T. & Takeda, J. (1996) Glycosylphosphatidylinositol-anchor-deficient mice: Implications for clonal dominance of mutant cells in paroxysmal nocturnal hemoglobinuria. Blood, 87, 3600-3606.
23. Kinoshita, T., Ohishi, K. & Takeda, J. (1997) GPI-anchor synthesis in mammalian cells: genes, their products, and a deficiency. Journal of Biochemistry, 122, 251-257.
24. Lewis, S.M. & Dacie, J.V. (1965) Neutrophil (leucocyte) alkaline phosphatase in paroxysmal nocturnal haemoglobinuria. British Journal of Haematology, 11, 549-556.
25. Lin, L.I., Liu, C.H., Chen, Y.C., Shen, M.C., Wang, C.H., Huang, Y.L. & Lin, J.K. (1997) PIG-A gene mutations in four Taiwanese patients with paroxysmal nocturnal haemoglobinuria following aplastic anaemia. British Journal of Haematology, 97, 286-292.
26. Low, M.G. & Zilversmit, D.B. (1980) Role of phosphatidylinositol in attachment of alkaline phosphatase to membranes. Biohemistry, 19, 3913-3918.
27. Maciejewski, J.P., Sloand, E.M., Sato, T., Anderson, S. & Young, N.S. (1997) Impaired hematopoiesis in paroxysmal nocturnal hemoglobinuria/aplastic anemia is not associated with a selective proliferative defect in the glycosylphosphatidylinositol-anchored protein-deficient clone. Blood, 89, 1173-1181.
28. Miyata, T., Takeda, J., Iida, Y., Yamada, N., Inoue, N., Takahashi, M., Maeda, K., Kitani, T. & Kinoshita, T. (199 3) The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science, 259, 1318-1320.
29. Miyata, T., Yamada, N., Iida, Y., Nishimura, J., Takeda, J., Kitani, T. & Kinoshita, T. (1994) Abnormalities of the PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria. New England Journal of Medicine, 330, 249-255.
30. Nafa, K., Bessler, M., Deeg, H.J. & Luzzatto, L. (1998) New somatic mutation in the PIG-A gene emerges at relapse of paroxysmal nocturnal hemoglobinuria. Blood, 92, 3422-3427.
31. Nagarajan, S., Brodsky, R.A., Young, N.S. & Medof, M.E. (1995) Genetic defects underlying paroxysmal nocturnal hemoglobinuria that arises out of aplastic anemia. Blood, 86, 4656-4661.
32. Nakakuma, H., Nagakura, S., Horikawa, K., Hidaka, M., Kawaguchi, T., Iwamoto, N., Sanada, I., Kagimoto, T. & Takatsuki, K. (1994) Interleukin-2-dependent T-cell lines established from paroxysmal nocturnal hemoglobinuria patients. Blood, 84, 309-314.
33. Nishimura, J., Inoue, N., Wada, H., Ueda, E., Pramoonjago, P., Hirota, T., Machii, T., Kageyama, T., Kanamaru, A., Takeda, J., Kinoshita, T. & Kitani, T. (1997) A patient with paroxysmal nocturnal hemoglobinuria bearing four independent PIG-A mutant clones. Blood, 89, 3470-3476.
34. Oni, S.B., Osunkoya, B.O. & Luzzatto, L. (1970) Paroxysmal nocturnal hemoglobinuria: evidence for monoclonal origin of abnormal red cells. Blood, 36, 145-152.
35. Raquette, R.L., Yoshimura, R., Veiseh, C., Kunkel, L., Gajewski, J. & Rosen, P.J. (1997) Clinical characteristics predict response to antithymocyte globulin in paroxysmal nocturnal haemoglobinuria. British Journal of Haematology 96, 92-97.
36. Pavlu, J., Mortazavi, Y., Tooze, J., Marsh, J.C., Gordon-Smith, E.C. & Rutherford, T.R. (1997) Paroxysmal nocturnal haemoglobinuria due to an 88 bp direct tandem repeat insertion in the PIG-A gene. British Journal of Haematology, 98, 289-291.
37. Pramoonjago, P., Wanachiwanawin, W., Chinprasertsak, S., Pattanapanayasat, K., Takeda, J. & Kinoshita, T. (1995) Somatic mutations of PIG-A in Thai patients with paroxysmal nocturnal hemoglobinuria. Blood, 86, 1736-1739.
38. Prince, G.M., Nguyen, M., Lazarus, H.M., Brodsky, R.A., Terstappen, L.W. & Medof, M.E. (1995) Peripheral blood harvest of unaffected CD34+CD38-hematopoietic precursors in paroxysmal nocturnal hemoglobinuria. Blood, 86, 3381-3386.
39. Kawstron, A.C., Rollinson, S.J., Richards, S., Short, M.A., English, A., Morgan, G.J., Hale, G. & Hillmen, P. (1999) The PNH phenotype cells that emerge in most patients after CAMPATH-1H therapy are present prior to treatment. British Journal of Haematology, 107, 148-153.
40. Richards, S., Norfolk, D.R., Swirsky, D.M. & Hillmen, P. (1998) Lymphocyte subset analysis and glycosylphosphatidylinositol phenotype in patients with paroxysmal nocturnal hemoglobinuria. Blood, 92, 1799-1806.
41. Rosse, W.F. (1973) Variations in the red cells in paroxysmal nocturnal haemoglobinuria. British Journal of Haematology, 24, 327-342.
42. Rosti, V, Tremml, G., Soares, V, Pandolfi, P.P., Luzzatto, L. & Bessler, M. (1997) Murine embryonic stem cells without pig-a gene activity are competent for hematopoiesis with the PNH phenotype but not for clonal expansion. Journal of Clinical Investigation, 100, 1028-1036.
43. Rotoli, B. & Luzzatto, L. (1982) Decreased number of circulating BFUEs in paroxysmal nocturnal hemoglobinuria. Blood, 60, 157-159.
44. Rotoli, B. & Luzzatto, L. (1989) Paroxysmal nocturnal hemoglobinuria. Seminars in Hematology, 26, 201-207.
45. Savoia, A., Ianzano, L., Lunardi, C., De Sandre, G., Carotenuto, M., Musto, P. & Zelante, L. (1996) Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients. Human Genetics, 97, 45-48.
46. Schrezenmcier, H., Hertenstein, B., Wagner, B., Raghavachar, A. & Heimpel, H. (1995) A pathogenic 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. Experimental Hematology, #23, 81-87.
47. Schubert, J., Uciechowski, P., Delany, P., Tischler, H.J., Kolanus, W. & Schmidt, R.E. (1990) The PIG-anchoring defect in NK lymphocytes of PNH patients. Blood, 76, 1181-1187.
48. Schubert, J., Scholz, C., Geissler, R.G., Ganser, A. & Schmidt, R.E. (1997) G-CSF and cyclosporin induce an increase of normal cells in hypoplastic paroxysmal nocturnal hemoglobinuria. Annals of Hematology, 74, 225-230.
49. Socie, G., Mary, J.Y., de Gramont, A., Rio, B., Leporrier, M., Rose, C., Heudier, P., Rochant, H., Cahn, J.Y. & Gluckman, E. (1996) Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors. French Society of Haematology. Lancet, 348, 573-577.
50. Stoppa, A.M., Vey, N., Sainty, D., Arnouiet, C., Camerlo, J., Cappiello, M.A., Gastaut, J.A. & Maraninchi, D. (1996) Correction of aplastic anaemia complicating paroxysmal nocturnal haemoglobinuria: absence of eradication of the PNH clone and dependence of response on cyclosporin A administration. British Journal of Haematology, 93, 42-44.
51. Takahashi, M., Takeda, J., Hirose, S., Hyman, R., Inoue, N., Miyata, T., Ueda, E., Kitani, T., Medof, M.E. & Kinoshita, T. (1993) Deficient biosynthesis of N-acetylglucosaminyl-phosphatidylinositol, the first intermediate of glycosyl phosphatidylinositol anchor biosynthesis, in cell lines established from patients with paroxysmal nocturnal hemoglobinuria. Journal of Experimental Medicine, 177, 517-521.
52. Takeda, J., Miyata, T., Kawagoe, K., Iida. Y., Endo, Y., Fujita, T., Takahashi, M., Kitani, T. & Kinoshita, Y. (1993) Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell, 73, 703-711.
53. Taylor, V.C., Sims, M., Brett, S. & Field, M.C. (1997) Antibody selection against CD52 produces a paroxysmal nocturnal haemoglobinuria phenotype in human lymphocytes by a novel mechanism. Biochemical Journal, 322, 919-925.
54. Tichelli, A., Gratwohl, A., Wursch, A., Nissen, C. & Speck, B. (1988) Late haematological complications in severe aplastic anaemia. British Journal of Haematology, 69, 413-418.
55. Ware, R.E., Rosse, W.E., & Howard, T.A. (1994) Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.. Blood, 83, 885-892.
56. Yamada, N., Miyata, T., Misota, K., Kitani, T., Takeda, J. & Kinoshita, T. (1995) Somatic mutations of the PIG-A gene found in Japanese patients with paroxysmal nocturnal hemoglobinuria. Blood, 85, 885-892.