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LITERATURE CITED

  • 1
    Dacie JV. Paroxysmal nocturnal haemoglobinuria. Proc R Soc Med 1963;56:587596.
  • 2
    Oni SB, Osunkoya BO, Luzzatto L. Paroxysmal nocturnal hemoglobinuria: Evidence for monoclonal origin of abnormal red cells. Blood 1970;36:145152.
  • 3
    Miyata T, Takeda J, Iida Y, Yamada N, Inoue N, Takahashi M, Maeda K, Kitani T, Kinoshita T. The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science 1993;259:13181320.
  • 4
    Takeda J, Miyata T, Kawagoe K, Iida Y, Endo Y, Fujita T, Takahashi M, Kitani T, Kinoshita T. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell 1993;73:703711.
  • 5
    Nicholson-Weller A, March JP, Rosenfeld SI, Austen KF. Affected erythrocytes of patients with paroxysmal nocturnal hemoglobinuria are deficient in the complement regulatory protein, decay acceleration factor. Proc Natl Acad Sci USA 1983;80:50665070.
  • 6
    Holguin MH, Frederick LR, Bernshaw NJ, Wilcox LA, Parker CJ. 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 1989;84:717.
  • 7
    Rosse WF, Ware RE. The molecular basis of paroxysmal nocturnal hemoglobinuria. Blood 1995;86:32773268.
  • 8
    Nafa K, Bessler M, Castro-Malaspina H, Jhanwar S, Luzzatto L. The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications. Blood Cells Mol Dis 1998;24:370384.
  • 9
    Yamashina M, Ueda E, Kinoshita T, Takami T, Ojima A, Ono H, Tanaka H, Kondo N, Orii T, Okada N, et al. Inherited complete deficiency of 20-kilodalton homologous restriction factor (CD59) as a cause of paroxysmal nocturnal hemoglobinuria. N Engl J Med 1990;323:11841189.
  • 10
    Parker CJ. Historical aspects of paroxysmal nocturnal haemoglobinuria: ‘Defining the disease’. Br J Haematol 2002;117:322.
  • 11
    Hillmen P, Lewis SM, Bessler M, Luzzatto L, Dacie JV. Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med 1995;333:12531258.
  • 12
    Parker CJ. Bone marrow failure syndromes: Paroxysmal nocturnal hemoglobinuria. Hematol Oncol Clin North Am 2009;23:333346.
  • 13
    Brodsky RA. How I treat paroxysmal nocturnal hemoglobinuria. Blood 2009;113:65226527.
  • 14
    Dunn DE, Tanawattacharoen P, Boccuni P, Nagakura S, Green SW, Kirby MR, Kumar MS, Rosenfeld S, Young NS. Paroxysmal nocturnal hemoglobinuria cells in patients with bone marrow failure syndromes. Ann Intern Med 1999;131:401408.
  • 15
    Raza A, Ravandi F, Rastogi A, Bubis J, Lim SH, Weitz I, Castro-Malaspina H, Galili N, Jawde RA, Illingworth A. A prospective multicenter study of paroxysmal nocturnal hemoglobinuria cells in patients with bone marrow failure. Cytometry Part B (in press).
  • 16
    van der Schoot CE, Huizinga TW, van't Veer-Korthof ET, Wijmans R, Pinkster J, von dem Borne AE. Deficiency of glycosyl-phosphatidylinositol-linked membrane glycoproteins of leukocytes in paroxysmal nocturnal hemoglobinuria, description of a new diagnostic cytofluorometric assay. Blood 1990;76:18531859.
  • 17
    Hall SE, Rosse WF. The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria. Blood 1996;87:53325340.
  • 18
    Richards SJ, Rawstron AC, Hillmen P. Application of flow cytometry to the diagnosis of paroxysmal nocturnal hemoglobinuria. Cytometry 2000;42:223233.
  • 19
    Parker C, Omine M, Richards S, Nishimura J, Bessler M, Ware R, Hillmen P, Luzzatto L, Young N, Kinoshita T, et al. International PNH interest group. Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood 2005;106:36993709.
  • 20
    Hernández-Campo PM, Almeida J, Sánchez ML, Malvezzi M, Orfao A. Normal patterns of expression of glycosylphosphatidylinositol-anchored proteins on different subsets of peripheral blood cells: A frame of reference for the diagnosis of paroxysmal nocturnal hemoglobinuria. Cytometry Part B 2006;70B:7181.
  • 21
    Brodsky RA, Mukhina GL, Li S, Nelson KL, Chiurazzi PL, Buckley JT, Borowitz MJ. Improved detection and characterization of paroxysmal nocturnal hemoglobinuria using fluorescent aerolysin. Am J Clin Pathol 2000;114:459466.
  • 22
    Peghini PE, Fehr J. Clinical evaluation of an Aerolysin-based screening test for paroxysmal nocturnal haemoglobinuria. Cytometry Part B 2005;67B:1318.
  • 23
    Sutherland DR, Kuek N, Davidson J, Barth D, Chang H, Yeo EL, Bamford S, Chin-Yee IH, Keeney M. Diagnosing PNH with FLAER and multiparameter flow cytometry. Cytometry Part B 2007;72B:167177.
  • 24
    Sutherland DR, Kuek N, Azcona-Olivera J, Anderson T, Acton E, Barth D, Keeney M. Use of FLAER-based white blood cell assay in the primary screening of PNH clones. Am J Clin Pathol 2009;132:564572.
  • 25
    Richards SJ, Barnett D. The role of flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria in the clinical laboratory. Clin Lab Med 2007;27:577590.
  • 26
    Battiwalla M, Hepgur M, Pan D, McCarthy PL, Ahluwalia MS, Camacho SH, Starostik P, Wallace PK. Multiparameter flow cytometry for the diagnosis and monitoring of small GPI-deficient cellular populations. Cytometry Part B 2010;78B:348356.
  • 27
    Richards SJ, Whitby L, Cullen MJ, Dickinson AJ, Granger V, Reilly JT, Hillmen P, Barnett D. Development and evaluation of a stabilised whole blood preparation as a process control material for screening of paroxysmal nocturnal hemoglobinuria by flow cytometry. Cytometry Part B 2009;76B:4755.
  • 28
    Borowitz MJ, Craig FE, DiGiuseppe JA, Illingworth AJ, Rosse W, Sutherland DR, Wittwer CT, Richards SJ. Guidelines for the diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria and related disorders by flow cytometry. Cytometry Part B 2010;78B:211230.
  • 29
    Sutherland DR, Keeney M, Illingworth A. Practical guidelines for the high-sensitivity detection and monitoring of paroxysmal nocturnal hemoglobinuria clones by flow cytometry. Cytometry Part B 2012;82B:195208.
  • 30
    Sutherland DR, Acton E, Keeney M, Davis BH, Illingworth A. Use of CD157 in FLAER-based assays for high-sensitivity PNH granulocyte and PNH monocyte detection. Cytometry Part B 2014;86B:4455.
  • 31
    Barnett D, Granger V, Mayr P, Storie I, Wilson GA, Reilly JT. Evaluation of a novel stable whole blood quality control material for lymphocyte subset analysis: Results from the UK NEQAS Immune monitoring scheme. Cytometry 1996;26:216222.
  • 32
    Movalia MK, Illingworth A. Distribution of PNH clone sizes within high risk diagnostic categories among 481 positive patients identified by high sensitivity flow cytometry. Blood 2012;120:Abstract 1271.
  • 33
    Dalal BI, Khare NS. Flow cytometric testing for paroxysmal nocturnal hemoglobinuria: CD64 is better for gating monocytes than CD33. Cytometry Part B 2013;84B:3336.
  • 34
    Davis BH, Keeney M, Brown R, Illingworth AJ, King MJ, Kumpel B, Meier ER, Sandler SG, Shaz BH, Sutherland DR. CLSI H52-A2 Red Blood Cell Diagnostic Testing Using Flow Cytometry; Approved Guideline, 2nd ed. Wayne, PA: Clinical and Laboratory Standards Institute (in press). ISBN Number: 1-56238-957-2.
  • 35
    Parker CJ. Paroxysmal nocturnal hemoglobinuria. Curr Opin Hematol 2012;19:141148.
  • 36
    Valera JC, Brodsky RA. Paroxysmal nocturnal hemoglobinuria and the age of therapeutic complement inhibition. Expert Rev Clin Immunol 2013;9:11131124.
  • 37
    Kelly RJ, Hill A, Arnold LM, Brooksbank GL, Richards SJ, Cullen M, Mitchell LD, Cohen DR, Gregory WM, Hillmen P. Long-term treatment with Eculizumab in paroxysmal nocturnal hemoglobinuria: Sustained efficacy and improved survival. Blood 2011;117:67866792
  • 38
    Barnett D, Granger V, Kraan J, Whitby L, Reilly JT, Papa S, Gratama JW. Reduction of intra- and inter-laboratory variation in CD34+ stem cell enumeration using stable test material, standard protocols and targeted training. Br J Haematol 2000;108:784792.