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Research Article

A New Aspect of the Molecular Pathogenesis of Paroxysmal Nocturnal Hemoglobinuria

Pages 211-227 | Published online: 04 Sep 2013

References

  • Striibing, P. (1882) "Paroxysmale Haemoglobinurie", Dtsch. Med. Wochenschr. 8, 1–3.
  • Rosse, W.F. and Parker, C.J. (1985) "Paroxysmal nocturnal haemoglobinuria", Clin. Haematol. 14, 105–125.
  • Rosse, W.F. and Dacie, J.V. (1966) "Immune lysis of normal human and paroxysmal nocturnal hemoglobinuria (PNH) red blood cells. I. The sensitivity of PNH red cells to lysis by complement and specific antibody", J. Clin. Invest. 45, 736–748.
  • Rosse, WE (1973) "Variations in the red cells in paroxysmal nocturnal haemoglobinuria", Br. J. Haematol. 24, 327–342.
  • Low, M.G. (1988) "Structural and functional roles of glycosylphosphatidylinositol in membrane", Science 239, 268–275.
  • Oni, S.B., Osunkoya, B.O. and Luzzatto, L. (1970) "Paroxy-smal nocturnal hemoglobinuria: evidence for monoclonal origin of abnormal red cells", Blood 36, 145–152.
  • Takeda, J., Miyata, T., Kawagoe, K., Iida, Y., Endo, Y., Fujita, T., Takahashi, M., Kitani, T. and Kinoshita, T. (1993) "Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobi-nuria", Cell 73, 703–711.
  • Nicholson-Weller, A., Burge, J., Fearon, D.T., Weller, P.F. and Austen, K.F. (1982) "Isolation of a human erythrocyte membrane glycoprotein with decay-acceleration activity for C3 convertases of the complement system", J. Immunol. 129, 184–189.
  • Sugita, Y., Mazda, T. and Tomita, M. (1989) "Amino-terminal amino acid sequence and chemical and functional properties of a membrane attack complex-inhibitory factor from human erythrocyte membranes", J. Biochem. 106, 589–592.
  • Davies, A., Simmons, D.L., Hale, G., Harrison, R.A., Tighe, H., Lachmann, P.J. and Waldmann, H. (1989) "CD59, an Ly-6-like protein expressed in human lymphoid cells, regulates the action of the complement membrane attack complex on homologous cells", J. Exp. Med. 170, 637–654.
  • Holguin, M.H., Fredrick, L.R., Bernshaw, N.J., Wilcox, L.A. and Parker, C.J. (1989) "Isolation and characterization of a membrane protein from normal human erythrocytes that inhibits reactive lysis of the erythrocytes of paroxysmal nocturnal hemoglobinuria", J. Clin. Invest. 84, 7–17.
  • Okada, N., Harada, R., Fujita, T. and Okada, H. (1989) "Monoclonal antibodies capable of causing hemolysis of neurominidase-treated human erythrocytes by homologous complement", J. Immunol. 143, 2262–2266.
  • Rosse, W.F. and Ware, R.E. (1995) "The molecular basis of paroxysmal nocturnal hemoglobinuria", Blood 86, 3277–3286.
  • Young, N.S. (1992) "The problem of clonality in aplastic anemia: Dr Dameshek's riddle, restated", Blood 79, 1385–1392.
  • Kawagoe, K., Kitamura, D., Okabe, M., Taniuchi, I., Ikawa, M., Watanabe, T., Kinoshita, T. and Takeda, J. (1996) "Glycosylphosphatidylinositol-anchor-deficient mice: implications for clonal dominance of mutant cells in paroxysmal nocturnal hemoglobinuria", Blood 87, 3600–3606.
  • Brodsky, R.A., Vala, M.S., Barber, J.P., Medof, M.E. and Jones, R.J. (1997) "Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria", Proc. Natl Acad. Sci. USA 94, 8756–8760.
  • Shichishima, T., Terasawa, T., Hashimoto, C., Ohto, H., Uchida, T. and Maruyama, Y. (1991) "Heterogeneous expression of decay accelerating factor and CD59/mem-brane attack complex inhibition factor on paroxysmal nocturnal haemoglobinuria (PNH) erythrocytes", Br. J. Haematol. 78, 545–550.
  • Rosse, W.F., Hoffman, S., Campbell, M., Borowitz, M., Moore, J.B. and Parker, C.J. (1991) "The erythrocytes in paroxysmal nocturnal haemoglobinuria of intermediate sensitivity to complement lysis", Br. J. Haematol. 79, 99–107.
  • Shichishima, T., Terasawa, T., Saitoh, Y., Hashimoto, C., Ohto, H. and Maruyama, Y. (1993) "Diagnosis of paroxysmal nocturnal haemoglobinuria by phenotypic analysis of erythrocytes using two-colour flow cytometry with mono-clonal antibodies to DAF and CD59 /MACIF", Br. J. Haematol. 85, 378–386.
  • Ham, T.H. (1937) "Chronic haemolytic anaemia with paroxysmal nocturnal haemoglobinuria: a study of the mechanism of haemolysis in relation to acid—base equili-brium", N. Engl. J. Med. 217, 915–917.
  • Hartmann, R.C., Jenkins, D.E., Jr. and Amoid, A.B. (1970) "Diagnostic specificity of sucrose hemolysis test for paroxysmal nocturnal hemoglobinuria", Blood 35, 462–475.
  • Hall, S.E. and Rosse, W.F. (1996) "The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria", Blood 87, 5332–5340.
  • Iwamoto, N., Kawaguchi, T., Nagakura, S., Hidaka, M., Horikawa, K., Kagimoto, T., Takatsuki, K. and Nakakuma, H. (1995) "Markedly high population of affected reticulo-cytes negative for decay accelerating factor and CD59 in paroxysmal nocturnal hemoglobinuria", Blood 85, 2228–2232.
  • Brodsky, R.A., Mukhina, G.L., Li, S., Nelson, K.L., Chiurazzi, P.L., Buckley, T. and Borowitz, M.J. (2000) "Improved detection and characterization of paroxysmal nocturnal hemoglobinuria using fluorescent aerolysin", Am. J. Clin. Pathol. 114, 459–466.
  • Dacie, J. (1999) "Paroxysmal nocturnal haemoglobinuria", The Haemolytic Anaemias, 3rd ed. (Churchill Livingstone, London) Vol. 5, pp. 139–284.
  • Rosse, WE (1990) "Paroxysmal nocturnal hemoglobinuria", Clinical Immunohematology: Basic Concepts and Clinical Applications (Blackwell Scientific Publications, Boston), pp. 593–648.
  • Ploug, M., Plesner, T., Poune, E., Ellis, V, Hoyer Hansen, G., Hansen, N.E. and Dano, K. (1992) "The receptor for urokinase-type plasminogen activator is deficient on peripheral blood leukocytes in patients with paroxysmal nocturnal hemoglobinuria", Blood 79, 1447–1455.
  • Bradlow, B.A. (1961) "Liberation of material with platelet-like coagulant properties from intact red cells and particularly from reticulocytes", Br. J. Haematol. 7, 476–495.
  • Nicholson-Weller, A., March, J.P., Rosenfeld, S.I. and Austen, K.F. (1983) "Affected erythrocytes of patients with paroxy-smal nocturnal hemoglobinuria are deficient in the complement regulatory protein, decay accelerating factor", Proc. Natl Acad. Sci. USA 80, 5066–5070.
  • Pangburn, M.K., Schreiber, R.D. and Miiiler-Eberhard, H.J. (1983) "Deficiency of an erythrocyte membrane protein with complement regulatory activity in paroxysmal nocturnal hemoglobinuria", Proc. Natl Acad. Sci. USA 80, 5430–5434.
  • Kinoshita, T., Medof, M.E., Silber, R. and Nussenzweig, V. (1985) "Distribution of decay-accelerating factor in the peripheral blood of normal individuals and patients with paroxysmal nocturnal hemoglobinuria", J. Exp. Med. 162, 75–92.
  • Holguin, M.H., Wilcox, L.A., Bernshaw, N.J., Rosse, W.F. and Parker, C.J. (1989) "Relationship between the membrane inhibitor of reactive lysis and the erythrocyte phenotypes of paroxysmal nocturnal hemoglobinuria", J. Clin. Invest. 84, 1387–1394.
  • Lublin, D.M., Mallinson, G., Poole, J., Reid, M.E., Thompson, ES., Ferdman, B.R., Telen, M.J., Anstee, D.J. and Tanner, M.J. (1994) "Molecular basis of reduced or absent expression of decay-accelerating factor in Cromer blood group pheno-types", Blood 84, 1276–1282.
  • Wang, L., Uchikawa, M., Tsuneyama, H., Tokunaga, K., Tadokoro, K. and Juji, T. (1998) "Molecular cloning and characterization of decay-accelerating factor deficiency in Cromer blood group Inab phenotype", Blood 91, 680–684.
  • Merry, A.H., Rawlinson, VI., Uchikawa, M., Daha, M.R. and Sim, R.B. (1989) "Studies on the sensitivity to complement-mediated lysis of erythrocytes (Inab phenotype) with a deficiency of DAF (decay accelerating factor)", Br. J. Haematol. 73, 248–253.
  • Lin, R.C., Herman, J., Henry, L. and Daniels, G.L. (1988) "A family showing inheritance of the Inab phenotype", Transfusion 28, 427–429.
  • Telen, M.J. and Green, A.M. (1989) "The Inab phenotype: characterization of the membrane protein and complement regulatory defect", Blood 74, 437–441.
  • Motoyama, N., Okada, N., Yamashina, M. and Okada, H. (1992) "Paroxysmal nocturnal hemoglobinuria due to hereditary nucleotide deletion in the HRF20 (CD59) gene", Fur. J. Immunol. 22, 2669–2673.
  • Yamashina, M., Ueda, E., Kinoshita, T., Takami, T., Ojima, A., Ono, H., Tanaka, H., Kondo, N., Orii, T., Okada, N., Okada, H., Inoue, K. and Kitani, T. (1990) "Inherited complete deficiency of 20-kilodalton homologous restriction factor (CD59) as a cause of paroxysmal nocturnal hemoglobi-nuria", N. Engl. J. Med. 323, 1184–1189.
  • Shichishima, T., Saitoh, Y., Terasawa, T., Noji, H., Kai, T. and Maruyama, Y. (1999) "Complement sensitivity of erythro-cytes in a patient with inherited complete deficiency of CD59 or with the Inab phenotype", Br. J. Haematol. 104, 303–306.
  • Yonemura, Y., Kawakita, M., Koito, A., Kawaguchi, T., Nakakuma, H., Kagimoto, T., Shichishima, T., Terasawa, T., Akagaki, Y., Inai, S. and Takatsuki, K. (1990) "Paroxysmal nocturnal haemoglobinuria with coexisting deficiency of the ninth component of complement: lack of massive haemoly-tic attack", Br. J. Haematol. 74, 108–113.
  • Hyman, R. (1988) "Somatic genetic analysis of the expression of cell surface molecules", Trends Genet. 4, 5–8.
  • Armstrong, C., Schubert, J., Ueda, E., Knez, J.J., Gelperin, D., Hirose, S., Silber, R., Hollan, S., Schmidt, R.E. and Medof, M.E. (1992) "Affected paroxysmal nocturnal hemoglobi-nuria T lymphocytes harbor a common defect in assembly of N-acetyl-D-glucosamine inositol phospholipid correspond-ing to that in class A Thy-1-murine lymphoma mutants", J. Biol. Chem. 267, 25347–25351.
  • Takahashi, M., Takeda, J., Hirose, S., Hyman, R., Inoue, N., Miyata, T., Ueda, E., Kitani, T., Medof, M.E. and 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", J. Exp. Med. 177, 517–521.
  • Hillmen, P., Bessler, M., Mason, P.J., Watkins, W.M. and Luzzatto, L. (1993) "Specific defect in N-acetylglucosamine incorporation in the biosynthesis of the glycosylphosphati-dylinositol anchor in cloned cell lines from patients with paroxysmal nocturnal hemoglobinuria", Proc. Natl Acad. Sci. USA 90, 5272–5276.
  • Norris, J., Hall, S., Ware, RE., Kamitani, T., Chang, H.-M., Yeh, E. and Rosse, W.F. (1994) "Glycosyl-phosphatidyl-inositol anchor synthesis in paroxysmal nocturnal hemoglo-binuria: partial or complete defect in an early step", Blood 83, 816–821.
  • Watanabe, R., Inoue, N., Westfall, B., Taron, C., Orlean, P., Takeda, J. and Kinoshita, T. (1998) "The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1", EMBO J. 17, 877–885.
  • Watanabe, R., Murakami, Y., Marmor, M.D., Inoue, N., Maeda, Y, Hino, J., Kangawa, K., Julius, M. and Kinoshita, T. (2000) "Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2", EMBO J. 19, 4402–4411.
  • Miyata, T., Takeda, J., Iida, Y, Yamada, N., Inoue, N., Takahashi, M., Maeda, K., Kitani, T. and Kinoshita, T. (1993) "The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis", Science 259, 1318–1320.
  • Bessler, M., Mason, P.J., Hillmen, P., Miyata, T., Yamada, N., Takeda, J., Luzzatto, L. and Kinoshita, T. (1994) "Paroxysmal nocturnal hemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene", EMBO J. 13, 110–117.
  • Miyata, T., Yamada, N., Iida, Y., Nishimura, J., Takeda, J., Kitani, T. and Kinoshita, T. (1994) "Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria", N. Engl. J. Med. 330, 249–255.
  • Bessler, M., Mason, P.J., Hillmen, P. and Luzzatto, L. (1994) "Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria", Lancet 343, 951–953.
  • Ware, R.E., Rosse, WE and Howard, T.A. (1994) "Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria", Blood 83, 2418–2422.
  • Bessler, M., Mason, P.J., Hillmen, P. and Luzzatto, L. (1994) "Mutations in the PIG-A gene causing partial deficiency of GPI-linked surface proteins (PNH II) in patients with paroxysmal nocturnal haemoglobinuria", Br. J. Haematol. 87, 863–866.
  • Yamada, N., Miyata, T., Maeda, K., Kitani, T., Takeda, J. and Kinoshita, T. (1995) "Somatic mutations of the PIG-A gene found in Japanese patients with paroxysmal nocturnal hemoglobinuria", Blood 85, 885–892.
  • Kinoshita, T., Inoue, N. and Takeda, J. (1995) "Defective glycosyl phosphatidylinositol anchor synthesis and paroxy-smal nocturnal hemoglobinuria", Adv. Immunol. 60, 57–103.
  • Stafford, H.A., Nagarajan, S., Weinberg, J.B. and Medof, M.E. (1995) "PIG-A, DAF and proto-oncogene expression in paroxysmal nocturnal haemoglobinuria-associated acute myelogenous leukaemia blasts", Br. J. Haematol. 89, 72–78.
  • Ostendorf, T., Nischan, C., Schubert, J., Grussenmeyer, T., Scholz, C., Zielinska-Skowronek, M. and Schmidt, R.E. (1995) "Heterogeneous PIG-A mutations in different cell lineages in paroxysmal nocturnal hemoglobinuria", Blood 85, 1640–1646.
  • Pramoonjago, P., Wanachiwanawin, W., Chinprasertsak, S., Pattanapanayasat, K., Takeda, J. and Kinoshita, T. (1995) "Somatic mutations of PIG-A in Thai patients with paroxysmal nocturnal hemoglobinuria", Blood 86, 1736–1739.
  • Nafa, K., Mason, P.J., Hillmen, P., Luzzatto, L. and Bessler, M. (1995) "Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift type", Blood 86, 4650–4655.
  • Nagarajan, S., Brodsky, R.A., Young, N.S. and Medof, M.E. (1995) "Genetic defects underlying paroxysmal nocturnal hemoglobinuria that arises out of aplastic anemia", Blood 86, 4656–4661.
  • Endo, M., Ware, R.E., Vreeke, T.M., Singh, SY., Howard, T.A., Tomita, A., Holguin, M.H. and Parker, C.J. (1996) "Molecular basis of the heterogeneity of expression of glycosyl phosphatidylinositol anchored proteins in paroxysmal nocturnal hemoglobinuria", Blood 87, 2546–2557.
  • Endo, M., Ware, R.E., Vreeke, T.M., Howard, T.A. and Parker, C.J. (1996) "Identification and characterization of an inherited mutation of PIG-A in a patient with paroxysmal nocturnal haemoglobinuria", Br. J. Haematol. 93, 590–593.
  • Nishimura, J., Inoue, N., Azenishi, Y., Hirota, T., Akaogi, T., Shibano, M., Kawagoe, K., Ueda, E., Machii, T., Takeda, J., Kinoshita, T. and Kitani, T. (1996) "Analysis of PIG-A gene in a patient who developed reciprocal translocation of chromosome 12 and paroxysmal nocturnal hemoglobinuria during follow-up of aplastic anemia", Am. J. Hematol. 51, 229–233.
  • Bessler, M. (1996) "Paroxysmal nocturnal hemoglobinuria: the price for a chance", Schweiz. Med. Wochenschr. 126, 1912–1921.
  • Endo, M., Beatty, P.G., Vreeke, T.M., Wittwer, C.T., Singh, SE and Parker, C.J. (1996) "Syngeneic bone marrow transplantation without conditioning in a patient with paroxysmal nocturnal hemoglobinuria: in vivo evidence that the mutant stem cells have a survival advantage", Blood 88, 742–750.
  • Savoia, A., Ianzano, L., Lunardi, C., de Sandre, G., Carotenuto, M., Musto, P. and Zelante, L. (1996) "Identifi-cation of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients", Hum. Genet. 97, 45–48.
  • Rollinson, S., Richards, S., Norfolk, D., Bibi, K., Morgan, G. and Hillmen, P. (1997) "Both paroxysmal nocturnal hemoglobinuria (PNH) type II cells and type ifi cells can arise from different point mutations involving the same codon of the PIG-A gene", Blood 89, 3069–3071.
  • Nishimura, J., Inoue, N., Wada, H., Ueda, E., Pramoon-jago, P., Hirota, T., Machii, T., Kageyama, T., Kanamaru, A., Takeda, J., Kinoshita, T. and Kitani, T. (1997) "A patient with paroxysmal nocturnal hemoglobinuria bear-ing four independent PIG-A mutant clones", Blood 89, 3470–3476.
  • Lin, L., Liu, C., Chen, Y., Shen, M., Wang, C., Huang, Y. and Lin, J. (1997) "PIG-A gene mutations in four Taiwanese patients with paroxysmal nocturnal haemoglobinuria following aplastic anaemia", Br. J. Haematol. 97, 286–292.
  • Maugard, C., Margueritte, G., Tuffery, S., Rabesandratana, H., Demaille, J. and Claustres, M. (1997) "Recurrent PIG-A mutation (IV55 + 1G A) in a paediatric case of paroxy-smal nocturnal haemoglobinuria: detection by the protein truncation test", Br. J. Haematol. 98, 21–24.
  • Pavlu, J., Mortazavi, Y., Tooze, J., Marsh, J.C.W., Gordon-Smith, E.C. and Rutherford, T.R. (1997) "Paroxysmal nocturnal haemoglobinuria due to an 88 bp direct tandem repeat insertion in the PIG-A gene", Br. J. Haematol. 98, 289–291.
  • Nafa, K., Bessler, M., Deeg, H.J. and Luzzatto, L. (1998) "New somatic mutation in the PIG-A gene emerges at relapse of paroxysmal nocturnal hemoglobinuria", Blood 92, 3422–3427.
  • Nafa, K., Bessler, M., Castro-Malaspina, H., Jhanwar, S. and Luzzatto, L. (1998) "The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications", Blood Cells Mol. Dis. 24, 370–384.
  • Azenishi, Y, Ueda, E., Machii, T., Nishimura, J., Hirota, T., Shibano, M., Nakao, S., Kinoshita, T., Mizoguchi, H. and Kitani, T. (1999) "CD59-deficient blood cells and PIG-A gene abnormalities in Japanese patients with aplastic anaemia", Br. J. Haematol. 104, 523–529.
  • Kawaguchi, K., Wada, H., Mori, A., Takemoto, Y., Kakishita, E. and Kanamaru, A. (1999) "Detection of GPI-anchored protein-deficient cells in patients with aplastic anaemia and evidence for clonal expansion during the clinical course", Br. J. Haematol. 105, 80–84.
  • Pramoonjago, P., Pakdeesuwan, K., Siripanyaphinyo, U., Chinprasertsuk, S., Kinoshita, T. and Wanachiwanawin, W. (1999) "Genotypic, immunophenotypic and clinical features of Thai patients with paroxysmal nocturnal haemoglobi-nuria", Br. J. Haematol. 105, 497–504.
  • Araten, D.J., Nafa, K., Pakdeesuwan, K. and Luzzatto, L. (1999) "Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phe-notype are present in normal individuals", Proc. Natl Acad. Sci. USA 96, 5209–5214.
  • Purow, D.B., Howard, T.A., Marcus, S.J., Rosse, W.F. and Ware, R.E. (1999) "Genetic instability and the etiology of somatic PIG-A mutations in paroxysmal nocturnal hemo-globinuria", Blood Cells Mol. Dis. 25, 81–91.
  • Kanai, N., Vreeke, T.M. and Parker, C.J. (1999) "Paroxy-smal nocturnal hemoglobinuria: analysis of the effects of mutant PIG-A on gene expression", Am. J. Hematol. 61, 221–231.
  • Rawstron, A.C., Rollinson, S.J., Richards, S., Short, M.A., English, A., Morgan, G.J., Hale, G. and Hillmen, P. (1999) "The PNH phenotype cells that emerge in most patients after CAMPATH-1H therapy are present prior to treatment", Br. J. Haematol. 107, 148–153.
  • Kai, T., Shichishima, T., Noji, H., Yamamoto, T. and Maruyama, Y. (2000) "Changes of phenotypes and PIG-A gene abnormalities in precursor cells from patients with PNH during cell differentiation", Blood 96, 232a.
  • Noji, H., Shichishima, T., Saitoh, Y, Kai, T., Yamamoto, T., Ogawa, K., Okamoto, M., Ikeda, K. and Maruyama, Y. (2001) "The distribution of PIG-A gene abnormalities in paroxy-smal nocturnal hemoglobinuria granulocytes and cultured erythroblasts", Exp. Hematol. 29, 391–400.
  • Mortazavi, Y., Tooze, J.A., Gordon-Smith, E.C. and Ruther-ford, T.R. (2000) "N-RAS gene mutation in patients with aplastic anemia and aplastic anemia/paroxysmal nocturnal hemoglobinuria during evolution to clonal disease", Blood 95, 646–650.
  • Tanaka, H., Imamura, N., Oguma, N., Shintani, T., Tanaka, K., Hyodo, H., Oda, K. and Kimura, A. (2001) "Acute myelogeneous leukemia with PIG-A gene mutation evolved from aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome", Int. J. Hematol. 73, 206–212.
  • de Carvalho, R.F., Arruda, V.R., Saad, S.T.O. and Costa, EE (2001) "Detection of somatic mutations of the PIG-A gene in Brazilian patients with paroxysmal nocturnal hemoglobi-nuria", Braz. J. Med. Biol. Res. 34, 763–766.
  • Boccuni, P., Vecchio, L.D., Noto, R.B. and Rotoli, B. (2000) "Glycosyl phosphatidylinositol (GPI)-anchored molecules and the pathogenesis of paroxysmal nocturnal hemoglobi-nuria", Oncol. Hematol. 33, 25–43.
  • Terstappen, L.W.M.M., Nguyen, M., Huang, S., Lazarus, H.M. and Medof, M.E. (1993) "Defective and normal haematopoietic stem cells in paroxysmal nocturnal haemo-globinuria", Br. J. Haematol. 84, 504–514.
  • Rabesandratana, H., Toutant, J.-P., Reggio, H. and Vidal, M. (1998) "Decay-accelerating factor (CD55) and membrane inhibitor of reactive lysis (CD59) are released within exosomes during in vitro maturation of reticulocytes", Blood 91, 2573–2580.
  • Kooyman, D.L., Byrne, G.W., McCellan, S., Nielsen, D., Tone, M., Waldmann, H., Coffman, T.M., McCurry, K.R., Platt, J.L. and Logan, J.S. (1995) "In vivo transfer of GPI-linked complement restriction factors from erythrocytes to the endothelium", Science 269, 89–92.
  • Sloand, E.M., Maciejewski, J.P., Dunn, D., Moss, J., Brewer, B., Kirby, M. and Young, N.S. (1998) "Correction of the PNH defect by GPI-anchored protein transfer", Blood 92, 4439–4445.
  • Shichishima, T., Saitoh, Y, Terasawa, T., Ogawa, K. and Maruyama, Y. (1997) "Relationship between the pheno-types of circulating erythrocytes and cultured erythroblasts in paroxysmal nocturnal hemoglobinuria", Blood 90, 435–443.
  • Kawakami, Z., Ninomiya, H., Tomiyama, J. and Abe, T. (1990) "Deficiency of glycosyl-phosphatidylinositol anchored proteins on paroxysmal nocturnal haemoglobi-nuria (PNH) neutrophils and monocytes: heterogeneous deficiency of decay-accelerating factor (DAF) and CD16 on PNH neutrophils", Br. J. Haematol. 74, 508–513.
  • Fujioka, S. and Yamada, T. (1994) "Varying populations of CD59-negative, partly positive, and normally positive blood cells in different cell lineages in peripheral blood of paroxysmal nocturnal hemoglobinuria", Am. J. Hematol. 45, 122–127.
  • Kwong, Y.L., Lee, CE, Chan, T.K. and Chan, L.C. (1994) "Flow cytometric measurement of glycosylphosphatidyl-inositol-linked surface proteins on blood cells of patients with paroxysmal nocturnal hemoglobinuria", Am. J. Clin. Pathol. 102, 30–35.
  • Pakdeesuwan, K., Wanachiwanawin, W., Siripanyaphinyo, U., Pattanapanyasat, K., Wilairat, P. and Issaragrisil, S. (2000) "Immunophenotypic discrepancies between granulocytic and erythroid lineages in peripheral blood of patients with paroxysmal nocturnal haemoglobinuria", Fur. J. Haematol. 65, 8–16.
  • Josten, K.M., Tooze, J.A., Borthwick-Clarke, C., Gordon-Smith, E.C. and Rutherford, T.R. (1991) "Acquired aplastic anemia and paroxysmal nocturnal hemoglobinuria: studies on clonality", Blood 78, 3162–3167.
  • Bessler, M., Hillmen, P. and Luzzatto, L. (1992) "Clonal origin of abnormal granulocytes in paroxysmal nocturnal hemoglobinuria", Blood 80, 844–845.
  • Ohashi, H., Hotta, T., Ichikawa, A., Kinoshita, T., Taguchi, R., Kiguchi, T., Ikezawa, H. and Saito, H. (1994) "Peripheral blood cells are predominantly chimeric of affected and normal cells in patients with paroxysmal nocturnal hemoglobinuria: simultaneous investigation on clonality and expression of glycosylphosphatidylinositol-anchored proteins", Blood 83, 853–859.
  • Luzzatto, L., Usanga, E.A., Bienzle, U., Esan, G.F.J. and Fasuan, F.A. (1979) "Imbalance in X-chromosome expression: Evidence for a human X-linked gene affecting growth of hemopoietic cells", Science 205, 1418–1420.
  • Nishimura, J., Smith, C.A., Phillips, K.L., Ware, R.E. and Rosse, W.F. (1998) "Paroxysmal nocturnal hemoglo-binuria: molecular pathogenesis and molecular thera-peutic approaches", Hematopathol. Mol. Hematol. 11, 119–146.
  • Fujioka, S. and Asai, T. (1989) "Prognostic features of paroxysmal nocturnal hemoglobinuria in Japan", Acta Haematol. Jpn. 52, 1386–1394.
  • Brubaker, L.H., Essig, L.R. and Mengel, C.E. (1977) "Neutrophil life span in paroxysmal nocturnal hemoglobi-nuria", Blood 50, 657–662.
  • Devine, D.V., Siegel, R.S. and Rosse, W.F. (1987) "Interactions of the platelets in paroxysmal nocturnal hemoglobinuria with complement. Relationship to defects in the regulation of complement and of platelet survival in vivo", J. Clin. Invest. 79, 131–137.
  • Aster, R.H. and Enright, S.E. (1969) "A platelet and granulocyte membrane defect in paroxysmal nocturnal hemoglobinuria: usefulness for the detection of platelet antibodies", J. Clin. Invest. 48, 1199–1210.
  • Rotoli, B., Rebledo, R. and Luzzatto, L. (1982) "Decreased number of circulating BFU-Es in paroxysmal nocturnal hemoglobinuria", Blood 60, 157–159.
  • Tumen, J., Kline, L.B., Fay, J.W., Scullin, D.C., Reisner, E.G., Rosse, W.F. and Huang, A.T. (1980) "Complement sensitivity of paroxysmal nocturnal hemoglobinuria bone marrow cells", Blood 55, 1040–1046.
  • Dessypris, E.N., Clark, D.A., McKee, L.C. and Krantz, S.B. (1983) "Increased sensitivity to complement of erythroid and myeloid progenitors in paroxysmal nocturnal hemoglobi-nuria", N. Engl. J. Med. 309, 690–693.
  • Issaragrisil, S., Piankijagum, A., Chinprasertsuk, S. and Kruatrachue, M. (1986) "Growth of mixed erythroid-granulocytic colonies in culture derived from bone marrow of patients with paroxysmal nocturnal hemoglobinuria without addition of exogenous stimulation", Exp. Hematol. 14, 861–866.
  • Moore, J.G., Humpheries, R.K., Frank, MM. and Young, N. (1986) "Characterization of the hematopoietic defect in paroxysmal nocturnal hemoglobinuria", Exp. Hematol. 14, 222–229.
  • Kanamaru, A., Okuda, K., Ueda, E., Kitani, T., Kinoshita, T. and Nagai, K. (1988) "Different distribution of decay-accelerating factor on hematopoietic progenitors from normal individuals and patients with paroxysmal nocturnal hemoglobinuria", Blood 72, 507–511.
  • Dessypris, E.N., Gleaton, J.H. and Clark, D.A. (1988) "Increased sensitivity to complement of megakaryocyte progenitors in paroxysmal nocturnal haemoglobinuria", Br. J. Haematol. 69, 305–309.
  • Shichishima, T., Terasawa, T., Uchida, T. and Kariyone, S. (1989) "Complement sensitivity of erythroblasts and erythropoietic precursors in paroxysmal nocturnal haemo-globinuria (PNH)", Br. J. Haematol. 72, 578–583.
  • Moore, J.G., Frank, M.M., Muller-Eberhard, H.J. and Young, N.S. (1985) "Decay-accelerating factor is present on paroxysmal nocturnal hemoglobinuria erythroid progeni-tors and lost during erythropoiesis in vitro", J. Exp. Med. 162, 1182–1192.
  • Maciejewski, J.P., Sloand, EM., Sato, T., Anderson, S. and Young, N.S. (1997) "Impaired hematopoiesis in paroxysmal nocturnal hemoglobinuria/aplastic anemia is not associated with a selective proliferation defect in the glycosylphos-phatidylinositol-anchored protein-deficient clone", Blood 89, 1173–1181.
  • Lewis, S.M. and Dacie, J.V. (1967) "The aplastic anaemia-paroxysmal nocturnal haemoglobinuria syndrome", Br. J. Haematol. 13, 236–251.
  • Tichelli, A., Gratwohl, A., Wursch, A., Nissen, C. and Speck, B. (1988) "Late haematological complications in severe aplastic anaemia", Br. J. Haematol. 69, 413–418.
  • Hillmen, P., Lewis, S.M., Bessler, M., Luzzatto, L. and Dacie, J.V. (1995) "Natural history of paroxysmal nocturnal hemoglobinuria", N. Engl. J. Med. 333, 1253–1258.
  • Socié, G., Mary, J.-Y., de Gramont, A., Rio, B., Leporrier, M., Rose, C., Heudier, P., Rochant, H., Cahn, J.-Y. and Gluckman, E. (1996) "Paroxysmal nocturnal hemoglobinuria: long-term follow-up and prognostic factors", Lancet 348, 573–577.
  • Young, N., Griffith, P., Brittain, E., Griffith, P., Brittain, E., Elfenbein, G., Gardner, E, Huang, A., Harmon, D., Hewlett, J., Fay, J., Mangan, K., Morrison, E, Sensenbrenner, L., Shadduck R., Wang, W., Zaloulis, C. and Zukerman, K. (1988) "A multicenter trial of antithymocyte globulin in aplastic anemia and related diseases", Blood 72, 1861–1869.
  • Ware, RE., Hall, ST. and Rosse, W.F. (1991) "Paroxysmal nocturnal hemoglobinuria with onset in childhood and adolescence", N. Engl. J. Med. 325, 991–996.
  • Schubert, J., Vogt, HG., Zielinska-Skowronek, M., Freund, M., Kaltwasser, J.P., Hoelzer, D. and Schmidt, RT. (1994) "Development of the glycosylphosphatidylinositol-anchor-ing defect characteristic for paroxysmal nocturnal hemoglo-binuria in patients with aplastic anemia", Blood 83, 2323–2328.
  • Schrezenmeier, H., Hertenstein, B., Wager, B., Raghavachar, A. and Heimpel, H. (1995) "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. 23, 81–87.
  • Yamaguchi, M., Nakao, S., Takamatsu, H., Chuhjo, T., Shiobara, S. and Matsuda, T. (1995) "Quality of hematologic recovery in patients with aplastic anemia following cyclosporine therapy", Exp. Hematol. 23, 341–346.
  • Griscelli-Bennaceur, A., Gluckman, E., Scrobohaci, ML., Jonveaux, P., Vu, T., Bazarbachi, A., Carosella, ED., Sigaux, E and Socie, G. (1995) "Aplastic anemia and paroxysmal nocturnal hemoglobinuria: search for a pathogenetic link", Blood 85, 1354–1363.
  • Tooze, J.A., Saso, R., Marsh, J.C.W., Papadopoulos, A., Pulford, K. and Gordon-Smith, E.C. (1995) "The novel monoclonal antibody By114 helps detect the early emer-gence of a paroxysmal nocturnal hemoglobinuria clone in aplastic anemia", Exp. Hematol. 23, 1484–1491.
  • de Lord, C., Tooze, J.A., Saso, R., Marsh, J.C.W. and Gordon-Smith, E.C. (1998) "Deficiency of glycosylphosphatidyl inositol-anchored proteins in patients with aplastic anaemia does not affect response to immunosuppressive therapy", Br. J. Haematol. 101, 90–93.
  • Piaggio, G., Podestà, M., Pitto, A., Sessarego, M., Figari, O., Fugazza, G., Benvenuto, E, Bruno, B., van Lint, MT., Truini, M., Frassoni, E and Bacigalupo, A. (1999) "Coexistence of normal and clonal haematopoiesis in aplastic anaemia patients treated with immunosuppressive therapy", Br. J. Haematol. 107, 505–511.
  • Dunn, D.E., Tanawattanacharoen, P., Boccuni, P., Nagakura, S., Green, S.W., Kirby, MR., Kumar, M.S.A., Rosenfeld, S. and Young, N.S. (1999) "Paroxysmal nocturnal hemoglobi-nuria cells in patients with bone marrow failure syn-dromes", Ann. Intern. Med. 131, 401–408.
  • Wang, H., Chuhjo, T., Yamazaki, H., Shiobara, S., Teramura, M., Mizoguchi, H. and Nakao, S. (2001) "Relative increase of granulocytes with a paroxysmal nocturnal haemoglobinuria phenotype in aplastic anaemia patients: the high prevalence at diagnosis", Fur. J. Haematol. 66, 200–205.
  • Fujioka, S. and Yamada, T. (1993) "Decay-accelerating factor and CD59 expression in peripheral blood cells in aplastic anaemia and report of a case of paroxysmal nocturnal haemoglobinuria secondary to aplastic anaemia", Br. J. Haematol. 83, 660–662.
  • Nakakuma, H., Nagakura, S., Iwamoto, N., Kawaguchi, T., Hidaka, M., Horikawa, K., Kagimoto, T., Shido, T. and Takatsuki, K. (1995) "Paroxysmal nocturnal hemoglobinuria clone in bone marrow of patients with pancytopenia", Blood 85, 1371–1376.
  • Jin, J.-Y., Tooze, J.A., Marsh, J.C.W. and Gordon-Smith, E.C. (1997) "Glycosylphosphatidyl-inositol (GPI)-linked protein deficiency on the platelets of patients with aplastic anaemia and paroxysmal nocturnal haemoglobinuria: two distinct patterns correlating with expression on neutrophils", Br. J. Haematol. 96, 493–496.
  • Nakakuma, H., Kawaguchi, T., Horikawa, K., Hidaka, M., Nagakura, S., Iwamoto, N., Kagimoto, T. and Takatsuki, K. (1995) "Proposal for a clinical classification of the clinical stages of paroxysmal nocturnal hemoglobinuria", Blood 86, 2051–2052.
  • Shichishima, T. (2002) "Proposals for classification of the clinical stages, grading of severity and the molecular pathogenesis of paroxysmal nocturnal hemoglobinuria", Proceedings of the International Symposium on PNH and Related Disorders; Molecular Aspects of Pathogenesis, In press.
  • van Kamp, H., Smit, J.W., van den Berg, E., Halic, M.R. and Vellenga, E. (1994) "Myelodysplasia following paroxysmal nocturnal haemoglobinuria: evidence for the emergence of a separate clone", Br. J. Haematol. 87, 399–400.
  • Longo, L., Bessler, M., Beds, P., Swirsky, D. and Luzzatto, L. (1994) "Myelodysplasia in a patient with pre-existing paroxysmal nocturnal haemoglobinuria: a clonal disease originating from within a clonal disease", Br. J. Haematol. 87, 401–403.
  • Iwanaga, M., Furukawa, K., Amenomori, T., Mori, H., Nakamura, H., Fuchigami, K., Kimihira, S., Nakakuma, H. and Tomonaga, M. (1998) "Paroxysmal nocturnal haemo-globinuria clones in patients with myelodysplastic syn-drome", Br. J. Haematol. 102, 465–474.
  • Meletis, J., Terpos, E., Samarkos, M., Meletis, C., Konstanto-poulos, K., Komninaka, V., Apostolidou, E., Benopoulou, O., Korovesis, K., Mavrogianni, D., Variami, E., Yataganas, X. and Loukopoulos, D. (2001) "Detection of CD55 and/or CD59 deficient red cell populations in patients with aplastic anaemia, myelodysplastic syndromes and myeloprolifera-tive disorders", Haematologica 31, 7–16.
  • Dacie, J.V. and Lewis, S.M. (1972) "Paroxysmal nocturnal haemoglobinuria: clinical manifestation, haematology, and nature of the disease", Series Haematol. 3, 3–23.
  • Devine, D.V., Gluck, L.L., Rosse, W.F. and Weinberg, J.B. (1987) "Acute myeloblastic leukemia in paroxysmal noctur-nal hemoglobinuria. Evidence of evolution from the abnormal paroxysmal nocturnal hemoglobinuria clone", J. Clin. Invest. 79, 314–317.
  • Rotoli, B. and Luzzatto, L. (1989) "Paroxysmal nocturnal hemoglobinuria", Baillieres Clin. Haematol. 2, 113–138.
  • Shichishima, T., Terasawa, T., Hashimoto, C., Ohto, H., Takahashi, M., Shibata, A. and Maruyama, Y. (1993) "Discordant and heterogeneous expression of GPI-anchored membrane proteins on leukemic cells in a patient with paroxysmal nocturnal hemoglobinuria", Blood 81, 1855–1862.
  • Toyama, K., Ohyashiki, K., Yoshida, Y., Abe, T., Asano, S., Hirai, H., Hirashima, K., Hotta, T., Kuramoto, A., Kuriya, S., Miyazaki, T., Kakishita, E., Mizoguchi, H., Okada, M., Shirakawa, S., Takaku, E, Tomonaga, M., Uchino, H., Yasunaga, K. and Nomura, T. (1993) "Clinical implications of chromosomal abnormalities in 401 patients with myelodysplastic syndromes: a multicentric study in Japan", Leukemia 7, 499–508.
  • Greenberg, P., Cox, C., Lebeau, MM., Fenaux, P., Morel, P., Sanz, G., Sanz, M., Vallespi, T., Hamblin, T., Oscier, D., Ohyashiki, K., Toyama, K., Aul, C., Mufti, G. and Bennett, J. (1997) "International scoring system for evaluating prognosis in myelodysplastic syndromes", Blood 89, 2079–2088.
  • Socie, G., Henry-Amar, M., Bacigalupo, A., Hows, J., Tichelli, A., Ljungman, P., MaCann, SR., Frickhofen, N., van't Veer-Korthof, E. and Gluckman, E. (1993) "Malignant tumors occuring after treatment of aplastic anemia", N. Engl. J. Med. 329, 1152–1157.
  • Doney, K., Leisenring, W., Storb, R. and Appelbaum, ER. (1997) "Primary treatment of acquired aplastic anemia: outcomes with bone marrow transplantation and immuno-suppressive therapy", Ann. Intern. Med. 126, 107–115.
  • Socie, G., Rosenfeld, S., Frickhofen, N., Gluckman, E. and Tichelli, A. (2000) "Late clonal diseases of treated aplastic anemia", Semin. Hematol. 37, 91–101.
  • Harris, J.W., Koscick, R., Lazarus, H.M., Eshleman, J.R. and Medof, M.E. (1999) "Leukemia arising out of paroxysmal nocturnal hemoglobinuria", Leuk. Lymphoma 32, 401–426.
  • Jin, J.-Y, Tooze, J.A., Marsh, J.C.W., Mathhey, F. and Gordon-Smith, E. (1996) "Myelodysplasia following aplastic anae-mia-paroxysmal nocturnal haemoglobinuria syndrome after treatment with immunosuppression and G-CSF: evidence for the emergence of a separate clone", Br. J. Haematol. 94, 510–512.
  • Dunn, D.E., Yu, J., Nagarajan, S., Devetten, M., Weichold, F.F., Medof, M.E., Young, N.S. and Liu, J.M. (1996) "A knock-out model of paroxysmal nocturnal hemoglobinuria: Pig-a-hematopoiesis is reconstituted following intercellular transfer of GPI-anchored proteins", Proc. Natl Acad. Sci. USA 93, 7938–7943.
  • Rosti, V, Tremml, G., Soares, V, Pandolfi, PE, Luzzatto, L. and Bessler, M. (1997) "Murine embryonic stem cells without pig-a gene activity are competent for hematopoiesis with the phenotype but not for clonal expansion", J. Clin. Investig. 100, 1028–1036.
  • Tremml, G., Dominguez, C., Rosti, V, Zhang, Z., Pandolfi, PE, Keller, P. and Bessler, M. (1999) "Increased sensitivity to complement and a decreased red blood cell life span in mice mosaic for a nonfunctional Piga gene", Blood 94, 2945–2954.
  • Murakami, Y., Kinoshita, T., Maeda, Y, Nakano, T., Kosaka, H. and Takeda, J. (1999) "Different roles of glycosylphos-phatidylinositol in various hematopoietic cells as revealed by a mouse model of paroxysmal nocturnal hemoglobi-nuria", Blood 94, 2963–2970.
  • Horikawa, K., Nakakuma, H., Kawaguchi, T., Iwamoto, N., Nagakura, S., Kagimoto, T. and Takatsuki, K. (1997) "Apoptosis resistance of blood cells from patients with paroxysmal nocturnal hemoglobinuria, aplastic anemia, and myelodysplastic syndrome", Blood 90, 2716–2722.
  • Ware, R.E., Nishimura, J., Moody, M.A., Smith, C., Rosse, W.F. and Howard, T.A. (1998) "The PIG-A mutation and absence of glycosylphosphatidylinositol-linked proteins do not confer resistance to apoptosis in paroxysmal nocturnal hemoglobinuria", Blood 92, 2541–2550.
  • Mauer, A.M., Athens, J.W., Ashenbrucker, H., Cartwright, G.E. and Wintrobe, M.M. (1960) "Leukokinetic studies. II. A method for labeling granulocytes in vitro with radioactive diisopropylfluorophosphate (DFP 32)", J. Clin. Invest. 39, 1481–1486.
  • Yamamoto, T., Shichishima, T., Shikama, Y., Saitoh, Y., Ogawa, K. and Maruyama, Y. (2002) "Granulocytes from patients with paroxysmal nocturnal hemoglobinuria and normal individuals have the same sensitivity to spontaneous apoptosis", Exp. Hematol. 30, 187–194.
  • Chen, R., Nagarajan, S., Prince, G.M., Maheshwari, U., Terstappen, L.W.M.M., Kaplan, D.R., Gerson, S.L., Albert, J.M., Dunn, D.E., Lazarus, H.M. and Medof, M.E. (2000) "Impaired growth and elevated Fas receptor expression in PIGA + stem cells in primary paroxysmal nocturnal hemoglobinuria", J. Clin. Invest. 106, 689–696.
  • Young, N.S. and Maciejewski, J.P. (2000) "Genetic and environmental effects in paroxysmal nocturnal hemoglobi-nuria: this little PIG-A goes 'Why? Why? Why?'", J. Clin. Invest. 106, 637–641.
  • Luzzatto, L. and Bessler, M. (1996) "The dual pathogenesis of paroxysmal nocturnal hemoglobinuria", Curr. Opin. Hematol. 3, 101–110.
  • Young, N.S and Alert, B.P (1994) Aplastic Anemia Acquired and Inherited (Saunders, Philadelphia, PA).
  • Nakao, S., Yamaguchi, M., Shiobara, S., Yokoi, T., Miyawaki, T., Taniguchi, T. and Matsuda, T. (1992) "Interferon-gamma gene expression in unstimulated bone marrow mononuclear cells predicts a response to cyclosporin therapy in aplastic anemia", Blood 79, 2532–2535.
  • Kook, H., Zeng, W., Guibin, C., Kirby, M., Young, N.S. and Maciejewski, J.P. (2001) "Increased cytotoxic T cells with effector phenotype in aplastic anemia and myelodysplasia", Exp. Hematol. 29, 1270–1277.
  • Rugman, EP., Ashby, D. and Davies, J.M. (1990) "HLA-DR predict response to specific immunosuppressive therapy in aplastic anaemia? [letter]", Br. J. Haematol. 74, 545–546.
  • Nakao, S., Yamaguchi, M., Saito, M., Yasue, S., Shiobara, S., Matsuda, T., Nitta, M. and Sasaki, M. (1992) "HLA-DR2 predicts a favorable response to cyclosporin therapy in patients with bone marrow failure [letter]", Am. J. Hematol. 40, 239–240.
  • Chapuis, B., von Fliedner, M., Merica, J.H., Vuagnat, P., Gratwohl, C., Nissen, C. and Speck, B. (1986) "Increased frequency of DR2 in patients with aplastic anemia and increased DR sharing in their parents", Br. J. Haematol. 63, 51–57.
  • Nimer, S.D., Ireland, P., Meshkinpour, A. and Frane, M. (1994) "An increased HLA DR2 frequency is seen in aplastic anemia patients", Blood 84, 923–927.
  • Zeng, W., Maciejewski, J.P., Chen, G. and Young, N.S. (2001) "Limited heterogeneity of T cell receptor BV usage in aplastic anemia", J. Clin. Invest. 108, 765–773.
  • Maciejewski, J.P., Follmann, D., Nakamura, R., Saunthara-rajah, Y., Rivera, C.E., Simonis, T., Brown, K.E., Barrett, J.A. and Young, N.S. (2001) "Increased frequency of HLA-DR2 in patients with paroxysmal nocturnal hemoglobinuria and the PNH/aplastic anemia syndrome", Blood 98, 3513–3519.
  • Shichishima, T., Okamoto, M., Ikeda, K., Kaneshige, T., Sugiyama, H., Terasawa, T., Osumi, K. and Maruyama, Y. (2002) "HLA class II haplotype and quantitation of WT1 RNA in Japanese patients with paroxysmal nocturnal hemoglobinuria (PNH)", Blood 100, 22–28.
  • Novak, E.J., Lin, A.W., Nepom, G.T. and Kwok, W.W. (1999) "MHC class II tetramers identify peptide-specific human CD4+ T cells proliferating in response to influenza A antigen", J. Clin. Invest. 104, 63–67.
  • Arten, D.J., Nafa, K., Pakdeesuwan, K. and Luzzatto, L. (1999) "Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phe-notype are present in normal individuals", Proc. Natl Acad. Sci. USA 96, 5209–5214.
  • Takami, A., Zang, W., Wang, H., Matsuda, T. and Nakao, S. (1999) "Cytotoxicity against lymphoblastoid cells mediated by a T-cell clone from an aplastic anaemia patient: role of CD59 on target cells", Br. J. Haematol. 107, 791–796.
  • Asea, A., Kraeft, S.K., Kurt-Jones, E.A., Stevenson, M.A., Chen, LB., Finberg, R.W., Koo, G.C. and Calderwood, S.K. (2000) "HSP 70 stimulates cytokine production through a CD14-dependent pathway, demonstrating its dual role as a chaperone and cytokine", Nat. Med. 6, 435–442.
  • Karadimitris, A., Manavalan, J.S., Thaler, H.T., Notaro, R., Araten, D.J., Nafa, K., Roberts, I.A.G., Weksler, M.E. and Luzzatto, L. (2000) "Abnormal T-cell repertoire is consistent with immune process underlying the pathogenesis of paroxysmal nocturnal hemoglobinuria", Blood 96, 2613–2620.
  • Romagnoli, P. and Bron, C. (1999) "Defective TCR signaling events in glycosylphosphatidylinositol-deficient T cells derived from paroxysmal nocturnal hemoglobinuria patients", Blood 96, 2613–2620.
  • Richards, S.J., Morgan, G.J. and Hillmen, P. (1999) "Analysis of T cells in paroxysmal nocturnal hemoglobinuria provides direct evidence that thymic T-cell production declines with age", Blood 94, 2790–2799.
  • Karadimitris, A. and Luzzatto, L. (2001) "The cellular pathogenesis of paroxysmal nocturnal haemoglobinuria", Leukemia 15, 1148–1152.
  • Dunbar, P.R., Ogg, G.S., Chen, J., Rust, N., van der Bruggen, P. and Cerundolo, V. (1998) "Direct isolation, phenotyping and cloning of low-frequency antigen-specific cytotoxic T lymphocytes from peripheral blood", Curr. Biol. 8, 413–416.
  • He, X.S., Rehermann, B., Lopez-Labrador, F.X., Boisvert, J., Cheung, R., Mumm, J., Wedemeyer, H., Berenguer, M., Wright, T.L., Davis, M.M. and Greenberg, H.B. (1999) "Quantitative analysis of hepatitis C virus-specific CD8 (+) T cells in peripheral blood and liver using peptide-MHC tetramers", Proc. Natl Acad. Sci. USA 96, 5692–5697.
  • Call, K.M., Glaser, T., Ito, C.Y., Buckler, A.J., Pelletier, J., Haber, D.A., Rose, E.A., Kral, A., Yeger, H., Lewis, W.H., Jones, C. and Housman, D.E. (1990) "Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus", Cell 60, 509–520.
  • Gessler, M., Poustka, A., Cavenee, W., Neve, R.L., Orkin, S.H. and Bruns, G.A. (1990) "Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping", Nature 343, 774–778.
  • Patmasirivat, P., Faizer, C.C., Claxton, D., Kantailian, H. and Saunders, G.F. (1996) "Expression pattern of WT1 and GATA-1 in AML with chromosome 16q22 abnormalities", Leukemia 10, 1127–1133.
  • Baird, P.N. and Simmonds, P.J. (1997) "Expression of the Wilms' tumor gene (WT1) in normal hematopoiesis", Exp. Hematol. 25, 312–320.
  • Menssen, H.D., Renld, H.-J., Entezami, M. and Thiel, E. (1997) "Wilms' tumor gene expression in CD34 + hemato-poietic progenitors during fetal development and early clonogenic growth petted'', Blood 89, 3486–3487.
  • Inoue, K., Sugiyama, H., Ogawa, H., Nakagawa, M., Yamagami, T., Miwa, H., Kita, K., Hiraoka, A., Masaoka, T. and Nasu, K. (1994) "WT1 as a new prognostic factor and a new marker for the detection of minimal residual disease in acute leukemia", Blood 84, 3071–3079.
  • Menssen, H.D., Renld, H.J., Rodeck, U., Kari, C., Schwartz, S. and Thiel, E. (1997) "Detection by monoclonal antibodies of the Wilms' tumor (WT1) nuclear protein in patients with acute leukemia", Int. Cancer 70, 518–523.
  • Tamaki, H., Ogawa, H., Ohyashiki, K., Iwama, H., Inoue, K., Soma, T., Oka, Y., Takekawa, T., Oji, Y., Tsuboi, A., Kim, E.H., Kawakami, M., Fuchigami, K., Tomonaga, M., Toyama, K., Aozasa, K., Kishimoto, T. and Sugiyama, H. (1999) "The Wilms' tumor gene WT1 is a good marker for diagnosis of disease progression of myelodysplastic syndromes", Leuke-mia 13, 393–399.
  • Armstrong, J.F., Pritchard-Jones, K., Bickmore, W.A., Hastie, N.D. and Bard, J.B. (1993) "The expression of the Wilms' tumor gene, WT1, in the developing mammalian embryo", Mach. Dev. 40, 85–97.
  • Maheswaran, S., Park, S., Bernard, A., Morris, J.F., Rauscher, IQ, F.J., Hill, D.E. and Haber, D.A. (1993) "Physical and functional interaction between WT1 and p53 proteins", Proc. Natl Acad. Sci. USA 90, 5100–5104.
  • Johnstone, R.W., See, R.H., Sells, S.F., Wang, J., Muthuk-kumar, S., Englert, C., Haber, D.A., Licht, J.D., Sugrue, S.P., Roberts, T., Rangnekar, V.M. and Shi, Y. (1996) "A novel repressor, par-4, modulates transcription and growth suppression functions of the Wilms' tumor suppressor WT1", Mol. Cell. Biol. 16, 6945–6956.
  • Johnstone, R.W., Wang, J., Tommerup, N., Vissing, H., Roberts, T. and Shi, Y. (1998) "Ciao 1 is a novel VVD40 protein that interacts with the tumor suppressor protein WT1", J. Biol. Chem. 273, 10880–10887.
  • Oka, Y., Elisseeva, O.A., Tsuboi, A., Ogawa, H., Tamaki, H., Li, H., Oji, Y, Kim, E.H., Soma, T., Asada, M., Ueda, K., Maruya, E., Saji, H., Kishimoto, T., Udaka, K. and Sugiyama, H. (2000) "Human cytotoxic T-lymphocyte responses specific for peptides of wild-type Wilms' tumor gene (WT1) product", Immunogenetics 51, 99–107.
  • Gao, L., Bellantuono, I., Elsasser, A., Marley, S.B., Gordon, M.Y., Goldman, J.M. and Stauss, H.J. (2000) "Selective elimi-nation of leukemic CD34 (+) progenitor cells by cytotoxic T lymphocytes specific for WT1", Blood 95, 2198–2203.
  • Ohminami, H., Yasukawa, M. and Fujita, S. (2000) "HLA class-I restricted lysis of leukemia cells by a CD8 (+) cytotoxic T-lymphocyte clone specific for WT1 peptide", Blood 95, 286–293.
  • Gaiger, A., Reese, V, Disis, M.L. and Cheever, M.A. (2000) "Immunity to WT1 in the animal model and in patients with acute myeloid leukemia", Blood 96, 1480–1489.
  • Hattori, H., Machii, T., Ueda, E., Shibano, M., Kageyama, T. and Kitani, T. (1997) "Increased frequency of somatic mutations at glycophorin A loci in patients with aplastic anaemia, myelodysplastic syndrome and paroxysmal noc-turnal haemoglobinuria", Br. J. Haematol. 98, 384–391.
  • Kai, T., Shichishima, T., Noji, H., Yamamoto, T., Okamoto, M., Ikeda, K. and Maruyama, Y. (2002) "Phenotypes and phosphatidylinositol glycan-class A gene abnormalities during cell differentiation and maturation from precursor cells to mature granulocytes in patients with paroxysmal nocturnal hemoglobinuria", Blood 100, In press.
  • Nishimura, J., Hirota, T., Kanakura, Y., Machii, T., Kageyama, T., Doi, S., Wada, H., Masaoka, T., Kanayama, Y., Fujii, H., Inoue, N., Kuwayama, M., Inoue, N., Ohishi, K. and Kinoshita, T. (2002) "Long-term support of hematopoie-sis by a single stem cell clone in patients with paroxysmal nocturnal hemoglobinuria", Blood 99, 2748–2751.
  • Hertenstein, B., Wager, B., Bunjes, D., Duncker, C., Raghavachar, A., Arnold, R., Heimpel, H. and Schrezen-meier, H. (1995) "Emergence of CD52-, phosphatidylinosi-tolglycan-anchor-deficient T lymphocytes offer in vivo application of Campath-1H for refractory B-cell non-Hodgkin lymphoma", Blood 86, 1487–1492.
  • van Kamp, H., Landegent, J.E., Jansen, R.P.M., Willemze, R. and Fibbe, W.E. (1991) "Clonal hematopoiesis in patients with acquired aplastic anemia", Blood 78, 3209–3214.
  • Li, K., Kawaguchi, T., Ishihara, S., Horikawa, K., Hidaka, M., Sakaguchi, M., Tsuruzaki, R., Kawakita, M., Kagimoto, T., Mitsuya, H. and Nakakuma, H. (2000) "Rarity of micro-satellite alterations in patients with paroxysmal nocturnal haemoglobinuria [Letter]", Fur. J. Haematol. 64, 430–432.
  • de Lange, T. (1998) "Length control of human telomeres", Cancer J. Sci. Am. 4, S22—S25.
  • Ball, S.E., Gibson, EM., Rizzos, S., Tooze, J.A., Marsh, J.C.W. and Gordon-Smith, E.C. (1998) "Progressive telomere shortening in aplastic anemia", Blood 91, 3582–3592.
  • Briimmendorf, T.H., Maciejewski, J.P., Mak, J., Young, N.S. and Lansdorf, P.M. (2001) "Telomere length in leukocyte subpopulations of patients with aplastic anemia", Blood 97, 895–900.
  • Lee, J.-J., Kook, H., Chung, I.-J., Na, J.-A., Park, M.-R., Hwang, T.-J., Kwak, J.-Y., Sohn, S.-K. and Kim, H.-J. (2001) "Telomere length changes in patients with aplastic anae-mia", Br. J. Haematol. 112, 1025–1030.
  • Ohyashiki, J.H., Sashida, G., Shichishima, T. and Ohyashiki, K. (2002) "Telomeres in myelodysplastic syndrome and its related disorders: does telomere length reflect stem cell turnover in clonal hematopoietic disorders?", Proceedings of the International Symposium on PNH and Related Disorders; Molecular Aspects of Pathogenesis, In press.

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