Page 504 - Hematology_ Basic Principles and Practice ( PDFDrive )
P. 504

424    Part IV  Disorders of Hematopoietic Cell Development


         3.  Rother RP, Rollins SA, Mojcik CF, et al: Discovery and development of   16.  Hillmen  P,  Muus  P,  Roth  A,  et al:  Long-term  safety  and  efficacy  of
           the complement inhibitor eculizumab for the treatment of paroxysmal   sustained eculizumab treatment in patients with paroxysmal nocturnal
           nocturnal hemoglobinuria. Nat Biotechnol 25(11):1256–1264, 2007.  haemoglobinuria. Br J Haematol 162(1):62–73, 2013.
         4.  Krawitz PM, Hochsmann B, Murakami Y, et al: A case of paroxysmal   17.  Brodsky RA, Mukhina GL, Li S, et al: Improved detection and char-
           nocturnal hemoglobinuria caused by a germline mutation and a somatic   acterization of paroxysmal nocturnal hemoglobinuria using fluorescent
           mutation in PIGT. Blood 122(7):1312–1315, 2013.       aerolysin. Am J Clin Pathol 114(3):459–466, 2000.
         5.  Johnston JJ, Gropman AL, Sapp JC, et al: The phenotype of a germline   18.  Borowitz MJ, Craig FE, DiGiuseppe JA, et al: Guidelines for the diagno-
           mutation in PIGA: the gene somatically mutated in paroxysmal noctur-  sis and monitoring of paroxysmal nocturnal hemoglobinuria and related
           nal hemoglobinuria. Am J Hum Genet 90(2):295–300, 2012.  disorders  by  flow  cytometry.  Cytometry  B  Clin  Cytom  78(4):211–230,
         6.  Belet S, Fieremans N, Yuan X, et al: Early frameshift mutation in PIGA   2010.
           identified in a large XLID family without neonatal lethality. Hum Mutat   19.  Hillmen  P,  Young  NS,  Schubert  J,  et al:  The  complement  inhibitor
           35(3):350–355, 2014.                                  eculizumab  in  paroxysmal  nocturnal  hemoglobinuria.  N  Engl  J  Med
         7.  Oni  SB,  Osunkoya  BO,  Luzzatto  L:  Paroxysmal  nocturnal  hemoglo-  355:1233–1243, 2006.
           binuria:  evidence  for  monoclonal  origin  of  abnormal  red  cells.  Blood   20.  Brodsky RA, Young NS, Antonioli E, et al: Multicenter phase III study
           36(2):145–152, 1970.                                  of the complement inhibitor eculizumab for the treatment of patients
         8.  Rother RP, Bell L, Hillmen P, et al: The clinical sequelae of intravascular   with paroxysmal nocturnal hemoglobinuria. Blood 111(4):1840–1847,
           hemolysis and extracellular plasma hemoglobin: a novel mechanism of   2008.
           human disease. JAMA 293(13):1653–1662, 2005.       21.  Hillmen P, Muus P, Duhrsen U, et al: Effect of the complement inhibitor
         9.  Hill  A,  Kelly  RJ,  Hillmen  P:  Thrombosis  in  paroxysmal  nocturnal   eculizumab on thromboembolism in patients with paroxysmal nocturnal
           hemoglobinuria. Blood 121(25):4985–4996, quiz 5105, 2013.  hemoglobinuria. Blood 110(12):4123–4128, 2007.
        10.  Moyo VM, Mukhina GL, Garrett ES, et al: Natural history of parox-  22.  DeZern AE, Dorr D, Brodsky RA: Predictors of hemoglobin response
           ysmal nocturnal hemoglobinuria using modern diagnostic assays. Br J   to eculizumab therapy in paroxysmal nocturnal hemoglobinuria. Eur J
           Haematol 126:133–138, 2004.                           Haematol 90:16–24, 2013.
        11.  Pu JJ, Hu R, Mukhina GL, et al: The small population of PIG-A mutant   23.  Rondelli T, Risitano AM, Peffault de Latour R, et al: Polymorphism of
           cells in myelodysplastic syndromes do not arise from multipotent hema-  the complement receptor 1 gene correlates with hematological response
           topoietic stem cells. Haematologica 97(8):1225–1233, 2012.  to eculizumab in patients with paroxysmal nocturnal hemoglobinuria.
        12.  Hanaoka  N,  Nakakuma  H,  Horikawa  K,  et al:  NKG2D-mediated   Haematologica 99(2):262–266, 2014.
           immunity  underlying  paroxysmal  nocturnal  haemoglobinuria  and   24.  Nishimura J, Yamamoto M, Hayashi S, et al: Genetic variants in C5 and
           related bone marrow failure syndromes. Br J Haematol 146(5):538–545,   poor response to eculizumab. N Engl J Med 370(7):632–639, 2014.
           2009.                                              25.  Peffault de Latour R, Schrezenmeier H, Bacigalupo A, et al: Allogeneic
        13.  Hillmen P, Lewis SM, Bessler M, et al: Natural history of paroxysmal   stem  cell  transplantation  in  paroxysmal  nocturnal  hemoglobinuria.
           nocturnal hemoglobinuria. N Engl J Med 333:1253–1258, 1995.  Haematologica 97(11):1666–1673, 2012.
        14.  de  Latour  RP,  Mary  JY,  Salanoubat  C,  et al:  Paroxysmal  nocturnal   26.  Brodsky  RA,  Luznik  L,  Bolanos-Meade  J,  et al:  Reduced  intensity
           hemoglobinuria:  natural  history  of  disease  subcategories.  Blood   HLA-haploidentical  BMT  with  post  transplantation  cyclophospha-
           112(8):3099–3106, 2008.                               mide  in  nonmalignant  hematologic  diseases.  Bone  Marrow Transplant
        15.  Kelly  RJ,  Hill  A,  Arnold  LM,  et al:  Long-term  treatment  with  eculi-  42:523–527, 2008.
           zumab in paroxysmal nocturnal hemoglobinuria: sustained efficacy and
           improved survival. Blood 117(25):6786–6792, 2011.
   499   500   501   502   503   504   505   506   507   508   509