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European Journal of Internal Medicine
Volume 21, Issue 4
, Pages 260-267
, August 2010
A closer look at paroxysmal nocturnal hemoglobinuria
References
- . Paroxysmal nocturnal hemoglobinuria as a molecular disease. Medicine (Baltimore). 1997;76:63–93
- Paroxysmal nocturnal hemoglobinuria: natural history of disease subcategories. Blood. 2008;112:3099–3106
- The incidence and prevalence of paroxysmal nocturnal haemoglobinuria (PNH) and survival of patients in Yorkshire [abstract]. Haematologica. 2007;92:25
- Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood. 2005;106:3699–3709
- The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science. 1993;259:1318–1320
- . GPI-anchor synthesis in mammalian cells: genes, their products, and a deficiency. J Biochem. 1997;122:251–257
- . Biochemical background of paroxysmal nocturnal hemoglobinuria. Biochim Biophys Acta. 1999;1455:269–286
- . The molecular basis of paroxysmal nocturnal hemoglobinuria. Haematologica. 2000;85:82–87
- . The pathophysiology of paroxysmal nocturnal hemoglobinuria and treatment with eculizumab. Ther Clin Risk Manag. 2009;5:911–921
- . Impaired hematopoiesis in paroxysmal nocturnal hemoglobinuria/aplastic anemia is not associated with a selective proliferative defect in the glycosylphosphatidylinositol-anchored protein-deficient clone. Blood. 1997;89:1173–1181
- . Decreased number of circulating BFU-Es in paroxysmal nocturnal hemoglobinuria. Blood. 1982;60:157–159
- . The problem of clonality in aplastic anemia: Dr Dameshek's riddle, restated. Blood. 1992;79:1385–1392
- . The dual pathogenesis of paroxysmal nocturnal hemoglobinuria. Curr Opin Hematol. 1996;3:101–110
- . Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. Proc Natl Acad Sci U S A. 1999;96:5209–5214
- . Different roles of glycosylphosphatidylinositol in various hematopoietic cells as revealed by a mouse model of paroxysmal nocturnal hemoglobinuria. Blood. 1999;94:2963–2970
- Increased sensitivity to complement and a decreased red blood cell life span in mice mosaic for a nonfunctional Piga gene. Blood. 1999;94:2945–2954
- . New insights into molecular pathogenesis of bone marrow failure in paroxysmal nocturnal hemoglobinuria. Int J Hematol. 2007;86:27–32
- Minor population of CD55–CD59− blood cells predicts response to immunosuppressive therapy and prognosis in patients with aplastic anemia. Blood. 2006;107:1308–1314
- Emergence of CD52−, phosphatidylinositolglycan-anchor-deficient T lymphocytes after in vivo application of Campath-1H for refractory B-cell non-Hodgkin lymphoma. Blood. 1995;86:1487–1492
- . Immunoselection by natural killer cells of PIGA mutant cells missing stress-inducible ULBP. Blood. 2006;107:1184–1191
- Inefficient response of T lymphocytes to glycosylphosphatidylinositol anchor-negative cells: implications for paroxysmal nocturnal hemoglobinuria. Blood. 2002;100:4116–4122
- . Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria. Proc Natl Acad Sci U S A. 1997;94:8756–8760
- Glycosylphosphatidylinositol-anchored protein deficiency confers resistance to apoptosis in PNH. Exp Hematol. 2009;37:42–51
- . Altered lipid raft composition and defective cell death signal transduction in glycosylphosphatidylinositol anchor-deficient PIG-A mutant cells. Br J Haematol. 2008;142:413–422
- . Neutrophil (leucocyte) alkaline phosphatase in paroxysmal nocturnal haemoglobinuria. Br J Haematol. 1965;11:549–556
- . The erythrocyte acetylcholinesterase enzyme in paroxysmal nocturnal hemoglobinuria. Arch Pathol. 1960;69:534–543
- . The effect of iron therapy in paroxysmal nocturnal hemoglobinuria. Blood. 1970;36:559–565
- NKG2D-mediated immunity underlying paroxysmal nocturnal haemoglobinuria and related bone marrow failure syndromes. Br J Haematol. 2009;146:538–545
- . Variations in the red cells in paroxysmal nocturnal haemoglobinuria. Br J Haematol. 1973;24:327–342
- . 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. 1966;45:736–748
- . Clinical manifestations of paroxysmal nocturnal hemoglobinuria: present state and future problems. Int J Hematol. 2003;77:113–120
- . The Inab phenotype: characterization of the membrane protein and complement regulatory defect. Blood. 1989;74:437–441
- Inherited complete deficiency of 20-kilodalton homologous restriction factor (CD59) as a cause of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1990;323:1184–1189
- . Complement proteins C5b-9 induce vesiculation of the endothelial plasma membrane and expose catalytic surface for assembly of the prothrombinase enzyme complex. J Biol Chem. 1990;265:3809–3814
- . Complement proteins C5b-9 cause release of membrane vesicles from the platelet surface that are enriched in the membrane receptor for coagulation factor Va and express prothrombinase activity. J Biol Chem. 1988;263:18205–18212
- . Assembly of the platelet prothrombinase complex is linked to vesiculation of the platelet plasma membrane. Studies in Scott syndrome: an isolated defect in platelet procoagulant activity. J Biol Chem. 1989;264:17049–17057
- . Platelet-derived microparticles express high affinity receptors for factor VIII. J Biol Chem. 1991;266:17261–17268
- . Complement-induced vesiculation and exposure of membrane prothrombinase sites in platelets of paroxysmal nocturnal hemoglobinuria. Blood. 1993;82:1192–1196
- . Activation of platelets by alpha-thrombin is a receptor-mediated event. d-Phenylalanyl-l-prolyl-l-arginine chloromethyl ketone-thrombin, but not N alpha-tosyl-l-lysine chloromethyl ketone-thrombin, binds to the high affinity thrombin receptor. J Biol Chem. 1986;261:15928–15933
- . Complement-mediated regulation of tissue factor activity in endothelium. J Exp Med. 1995;182:1807–1814
- The receptor for urokinase-type plasminogen activator is deficient on peripheral blood leukocytes in patients with paroxysmal nocturnal hemoglobinuria. Blood. 1992;79:1447–1455
- Increased soluble urokinase plasminogen activator receptor (suPAR) is associated with thrombosis and inhibition of plasmin generation in paroxysmal nocturnal hemoglobinuria (PNH) patients. Exp Hematol. 2008;36:1616–1624
- . How I treat paroxysmal nocturnal hemoglobinuria. Blood. 2009;113:6522–6527
- . Chronic hemolytic anemia with paroxysmal nocturnal hemoglobinuria: a study of the mechanism of hemolysisin relation to acid-base equilibrium. N Engl J Med. 1937;217:915–917
- . The “sugar-water” test for paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1966;275:155–157
- . Fc III receptors (FcRIII) on granulocytes: a specific and sensitive diagnostic test for paroxysmal nocturnal hemoglobinuria (PNH). Eur J Haematol. 1991;47:179–184
- . The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria. Blood. 1996;87:5332–5340
- Detailed immunophenotypic characterization of different major and minor subsets of peripheral blood cells in patients with paroxysmal nocturnal hemoglobinuria. Transfusion. 2008;48:1403–1414
- Improved detection and characterization of paroxysmal nocturnal hemoglobinuria using fluorescent aerolysin. Am J Clin Pathol. 2000;114:459–466
- . Circulating PIG-A mutant T lymphocytes in healthy adults and patients with bone marrow failure syndromes. Exp Hematol. 2001;29:1403–1409
- . On the origin of multiple mutant clones in paroxysmal nocturnal hemoglobinuria. Stem Cells. 2007;25:3081–3084
- . PIG-A mutations in normal hematopoiesis. Blood. 2005;105:3848–3854
- . Binding sites for endotoxins (lipopolysaccharides) on human monocytes. J Immunol. 1991;147:1899–1904
- . Monocyte antigen CD14 is a phospholipid anchored membrane protein. Blood. 1989;73:284–289
- . The life-span of complement-sensitive and -insensitive red cells in paroxysmal nocturnal hemoglobinuria. Blood. 1971;37:556–562
- . Investigation of the survival of paroxysmal nocturnal hemoglobinuria red cells through the immunophenotyping of reticulocytes. Transfusion. 1998;38:337–342
- . Prolongation of red-cell life-span by incorporation of decay-accelerating factor (DAF) into red cells of paroxysmal nocturnal haemoglobinuria (PNH). Br J Haematol. 1989;73:132–133
- . Spectrum of renal involvement in paroxysmal nocturnal hemoglobinuria: report of three cases and a brief review of the literature. Int Urol Nephrol. 2008;40:471–475
- . MR of the kidneys, liver, and spleen in paroxysmal nocturnal hemoglobinuria. Abdom Imaging. 1994;19:168–173
- . Impact of magnetic resonance imaging on the diagnosis of abdominal complications of paroxysmal nocturnal hemoglobinuria. Blood. 1995;85:3283–3288
- . Acute renal failure in a patient with paroxysmal nocturnal hemoglobinuria. Clin Nephrol. 2001;56:172–174
- . Acute reversible renal failure in a patient with paroxysmal nocturnal hemoglobinuria. Clin Nephrol. 1998;50:255–257
- . Acute renal failure in paroxysmal nocturnal haemoglobinuria with splanchnic venous thromboses. Clin Lab Haematol. 1989;11:273–275
- . Paroxysmal nocturnal hemoglobinuria with renal failure. JAMA. 1971;215:433–436
- . The kidneys in paroxysmal nocturnal hemoglobinuria. Blood. 1981;57:83–89
- Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors. French Society of Haematology. Lancet. 1996;348:573–577
- . Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1995;333:1253–1258
- . Paroxysmal nocturnal hemoglobinuria: relation of the clinical manifestations to underlying pathogenic mechanisms. Blood. 1953;8:769–812
- . Natural history of paroxysmal nocturnal haemoglobinuria using modern diagnostic assays. Br J Haematol. 2004;126:133–138
- Clinical course and flow cytometric analysis of paroxysmal nocturnal hemoglobinuria in the United States and Japan. Medicine (Baltimore). 2004;83:193–207
- . Fulminant hepatic venous thrombosis (Budd-Chiari syndrome) in paroxysmal nocturnal hemoglobinuria: definition of a medical emergency. Johns Hopkins Med J. 1980;146:247–254
- . Thrombosis in paroxysmal nocturnal hemoglobinuria (PNH) with particular reference to progressive, diffuse hepatic venous thrombosis. Ser Haematol. 1972;5:115–136
- Paroxysmal nocturnal hemoglobinuria in Budd-Chiari syndrome: findings from a cohort study. J Hepatol. 2009;51:696–706
- . Intestinal infarction caused by paroxysmal nocturnal hemoglobinuria. Am J Hematol. 1984;16:75–81
- . Venous thrombosis and splenic rupture in paroxysmal nocturnal hemoglobinuria. Am J Med. 1980;68:275–279
- . Dural sinus thrombosis in paroxysmal nocturnal hemoglobinuria. Clin Neurol Neurosurg. 1984;86:149–152
- . Cerebral sinovenous thrombosis in a patient with paroxysmal nocturnal haemoglobinuria. West Indian Med J. 1992;41:31–33
- . Bilateral papilledema with retinal hemorrhages in association with cerebral venous sinus thrombosis and paroxysmal nocturnal hemoglobinuria. Am J Ophthalmol. 1996;122:592–593
- . Skin lesions in paroxysmal nocturnal hemoglobinuria. Arch Dermatol. 1978;114:560–563
- . Hemorrhagic bullae in an anemic women. Paroxysmal nocturnal hemoglobinuria (PNH). Arch Dermatol. 1986;122(1326–7):9–30
- . Paroxysmal nocturnal haemoglobinuria. A clinical study. Acta Med Scand. 1968;184:525–541
- . Cerebral ischemic infarction in paroxysmal nocturnal hemoglobinuria report of 2 cases and updated review of 7 previously published patients. J Neurol. 2005;252:1379–1386
- . Cerebral ischemia as first manifestation of paroxysmal nocturnal hemoglobinuria. Neurologia. 2007;22:471–474
- . Thrombosis in paroxysmal nocturnal hemoglobinuria at a glance: a clinical review. Curr Vasc Pharmacol. 2008;6:347–353
- . Paroxysmal nocturnal hemoglobinuria may cause retinal vascular occlusions. Int Ophthalmol. 2009;29:187–190
- . Prognostic features of paroxysmal nocturnal hemoglobinuria in Japan. Nippon Ketsueki Gakkai Zasshi. 1989;52:1386–1394
- . Neutrophil life span in paroxysmal nocturnal hemoglobinuria. Blood. 1977;50:657–662
- . Interactions of the platelets in paroxysmal nocturnal hemoglobinuria with complement. Relationship to defects in the regulation of complement and to platelet survival in vivo. J Clin Invest. 1987;79:131–137
- . Characterization of the hematopoietic defect in paroxysmal nocturnal hemoglobinuria. Exp Hematol. 1986;14:222–229
- Preferential hematopoiesis by paroxysmal nocturnal hemoglobinuria clone engrafted in SCID mice. Blood. 1996;87:4944–4948
- . Evaluation of the haemopoietic reservoir in de novo haemolytic paroxysmal nocturnal haemoglobinuria. Br J Haematol. 2003;123:552–560
- Development of the glycosylphosphatitylinositol-anchoring defect characteristic for paroxysmal nocturnal hemoglobinuria in patients with aplastic anemia. Blood. 1994;83:2323–2328
- . 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;23:81–87
- Aplastic anemia and paroxysmal nocturnal hemoglobinuria: search for a pathogenetic link. Blood. 1995;85:1354–1363
- . Deficiency of glycosylphosphatidyl inositol-anchored proteins in patients with aplastic anaemia does not affect response to immunosuppressive therapy. Br J Haematol. 1998;101:90–93
- CD59-deficient blood cells and PIG-A gene abnormalities in Japanese patients with aplastic anaemia. Br J Haematol. 1999;104:523–529
- Paroxysmal nocturnal hemoglobinuria cells in patients with bone marrow failure syndromes. Ann Intern Med. 1999;131:401–408
- Relative increase of granulocytes with a paroxysmal nocturnal haemoglobinuria phenotype in aplastic anaemia patients: the high prevalence at diagnosis. Eur J Haematol. 2001;66:200–205
- Paroxysmal nocturnal haemoglobinuria clones in patients with myelodysplastic syndromes. Br J Haematol. 1998;102:465–474
- . Urinary iron excretion and renal metabolism of hemoglobin in hemolytic diseases. Blood. 1966;28:708–725
- . Paroxysmal nocturnal hemoglobinuria and the transfusion of washed red cells. A myth revisited. Transfusion. 1989;29:681–685
- . Paroxysmal nocturnal haemoglobinuria: an acquired dyshaemopoiesis. Australas Ann Med. 1964;13:24–31
- . Transfusion of saline-washed red cells in nocturnal haemoglobinuria (Marchiafava–Micheli disease). Clin Sci (Lond). 1948;7:65–75
- . Paroxysmal nocturnal hemoglobinuria: clinical and laboratory studies relating to iron metabolism and therapy with androgen and iron. Medicine (Baltimore). 1966;45:331–363
- . Eculizumab for paroxysmal nocturnal haemoglobinuria. Lancet. 2009;373:759–767
- . Inhibition of terminal complement: a novel therapeutic approach for the treatment of systemic lupus erythematosus. Lupus. 2004;13:328–334
- . Discovery and development of the complement inhibitor eculizumab for the treatment of paroxysmal nocturnal hemoglobinuria. Nat Biotechnol. 2007;25:1256–1264
- Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria. N Engl J Med. 2004;350:552–559
- Sustained response and long-term safety of eculizumab in paroxysmal nocturnal hemoglobinuria. Blood. 2005;106:2559–2565
- The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria. N Engl J Med. 2006;355:1233–1243
- Multicenter phase 3 study of the complement inhibitor eculizumab for the treatment of patients with paroxysmal nocturnal hemoglobinuria. Blood. 2008;111:1840–1847
- Eculizumab, a terminal complement inhibitor, improves anaemia in patients with paroxysmal nocturnal haemoglobinuria. Br J Haematol. 2008;142:263–272
- Complement fraction 3 binding on erythrocytes as additional mechanism of disease in paroxysmal nocturnal hemoglobinuria patients treated by eculizumab. Blood. 2009;113:4049–4100
- . Recombinant human erythropoietin for long-term treatment of anemia in paroxysmal nocturnal hemoglobinuria. Haematologica. 1996;81:143–147
- . G-CSF and cyclosporin induce an increase of normal cells in hypoplastic paroxysmal nocturnal hemoglobinuria. Ann Hematol. 1997;74:225–230
- . Paroxysmal nocturnal hemoglobinuria and the risk of venous thrombosis: review and recommendations for management of the pregnant and nonpregnant patient. Haemostasis. 2000;30:103–117
- . Treatment of paroxysmal nocturnal hemoglobinuria. Blood. 1982;60:20–23
- . Tissue plasminogen activator for hepatic vein thrombosis in paroxysmal nocturnal haemoglobinuria. J Intern Med. 1994;235:85–89
- . Thrombolytic therapy for inferior vena cava thrombosis in paroxysmal nocturnal hemoglobinuria. Ann Intern Med. 1985;103:539–541
- . Primary prophylaxis with warfarin prevents thrombosis in paroxysmal nocturnal hemoglobinuria (PNH). Blood. 2003;102:3587–3591
- Effect of the complement inhibitor eculizumab on thromboembolism in patients with paroxysmal nocturnal hemoglobinuria. Blood. 2007;110:4123–4128
- . Successful discontinuation of anticoagulation following eculizumab administration in paroxysmal nocturnal hemoglobinuria. Am J Hematol. 2009;84:699–701
- Correction of aplastic anaemia complicating paroxysmal nocturnal haemoglobinuria: absence of eradication of the PNH clone and dependence of response on cyclosporin A administration. Br J Haematol. 1996;93:42–44
- . Clinical characteristics predict response to antithymocyte globulin in paroxysmal nocturnal haemoglobinuria. Br J Haematol. 1997;96:92–97
- . Resolution of Budd-Chiari syndrome following bone marrow transplantation for paroxysmal nocturnal haemoglobinuria. Br J Haematol. 1996;92:707–710
- . Bone marrow transplantation for paroxysmal nocturnal hemoglobinuria: eradication of the PNH clone and documentation of complete lymphohematopoietic engraftment. Blood. 1985;66:1247–1250
- Bone marrow transplants for paroxysmal nocturnal haemoglobinuria. Br J Haematol. 1999;104:392–396
- . Marrow transplantation for paroxysmal nocturnal hemoglobinuria. Am J Hematol. 1992;39:283–288
- . 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. 1996;88:742–750
- Allogeneic stem cell transplantation from related and unrelated donors for aplastic anaemia in adults—a single-centre experience. Ann Hematol. 2008;87:551–556
PII: S0953-6205(10)00063-4
doi: 10.1016/j.ejim.2010.04.002
© 2010 European Federation of Internal Medicine. Published by Elsevier Inc. All rights reserved.
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European Journal of Internal Medicine
Volume 21, Issue 4
, Pages 260-267
, August 2010
