Browse the corpus

REFERENCES Gaspar HB, Aiuti A, Porta F, et al. How I treat ADA deficiency. Blood 2009; 114:3524. Gaspar HB. Bone marrow transplantation and alternatives for adenosine deaminase deficiency. Immunol Allergy Clin North Am 2010; 30:221. Sokolic R, Maric I, Kesserwan C, et al. Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. Blood 2011; 118:2688. Reisner Y, Kapoor N, Kirkpatrick D, et al. Transplantation for severe combined immunodeficiency with HLA-A,B,D,DR incompatible parental marrow cells fractionated by soybean agglutinin and sheep red blood cells. Blood 1983; 61:341. Friedrich W, Goldmann SF, Ebell W, et al. Severe combined immunodeficiency: treatment by bone marrow transplantation in 15 infants using HLA-haploidentical donors. Eur J Pediatr 1985; 144:125. Buckley RH, Schiff SE, Sampson HA, et al. Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation. J Immunol 1986; 136:2398. Markert ML, Hershfield MS, Schiff RI, Buckley RH. Adenosine deaminase and purine nucleoside phosphorylase deficiencies: evaluation of therapeutic interventions in eight patients. J Clin Immunol 1987; 7:389. Hassan A, Booth C, Brightwell A, et al. Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood 2012; 120:3615. Parkman R, Gelfand EW, Rosen FS, et al. Severe combined immunodeficiency and adenosine deaminase deficiency. N Engl J Med 1975; 292:714. Chen SH, Ochs HD, Scott CR, et al. Adenosine deaminase deficiency: disappearance of adenine deoxynucleotides from a patient's erythrocytes after successful marrow transplantation. J Clin Invest 1978; 62:1386. Rich KC, Richman CM, Mejias E, Daddona P. Immunoreconstitution by peripheral blood leukocytes in adenosine deaminase-deficient severe combined immunodeficiency. J Clin Invest 1980; 66:389. Buckley RH. Advances in the correction of immunodeficiency by bone marrow transplantation. Pediatr Ann 1987; 16:412. Grunebaum E, Cutz E, Roifman CM. Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. J Allergy Clin Immunol 2012; 129:1588. Titman P, Pink E, Skucek E, et al. Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies. Blood 2008; 112:3907.

Grunebaum E, Cutz E, Roifman CM. Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. J Allergy Clin Immunol 2012; 129:1588. Titman P, Pink E, Skucek E, et al. Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies. Blood 2008; 112:3907. Antoine C, Müller S, Cant A, et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99. Lancet 2003; 361:553. Hönig M, Albert MH, Schulz A, et al. Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. Blood 2007; 109:3595. Booth C, Hershfield M, Notarangelo L, et al. Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). Clin Immunol 2007; 123:139. Ballow M, Hirschhorn R. Varicella pneumonia in a bone marrow-transplanted, immune-reconstituted adenosine deaminase-deficient patient with severe combined immunodeficiency disease. J Clin Immunol 1985; 5:180. Hirschhorn R. Inherited enzyme deficiencies and immunodeficiency: adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiencies. Clin Immunol Immunopathol 1986; 40:157. Rubinstein A, Hirschhorn R, Sicklick M, Murphy RA. In vivo and in vitro effects of thymosin and adenosine deaminase on adenosine-deaminase-deficient lymphocytes. N Engl J Med 1979; 300:387. Polmar SH, Wetzler EM, Stern RC, Hirschhorn R. Restoration of in-vitro lymphocyte responses with exogenous adenosine deaminase in a patient with severe combined immunodeficiency. Lancet 1975; 2:743. Keightley RG, Lawton AR, Cooper MD, Yunis EJ. Successful fetal liver transplantation in a child with severe combined immunodeficiency. Lancet 1975; 2:850. Ackeret C, Llüss HJ, Hitzig WH. Hereditary sever combined immunodeficiency and adenosine deaminase deficiency. Pediatr Res 1976; 10:67. Polmar SH, Stern RC, Schwartz AL, et al. Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency. N Engl J Med 1976; 295:1337. Hopp RJ, Kobayashi RH, Antonson DL. Iron overload as a result of transfusion therapy in a patient with adenosine deaminase deficiency. Nebr Med J 1985; 70:95.

Polmar SH, Stern RC, Schwartz AL, et al. Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency. N Engl J Med 1976; 295:1337. Hopp RJ, Kobayashi RH, Antonson DL. Iron overload as a result of transfusion therapy in a patient with adenosine deaminase deficiency. Nebr Med J 1985; 70:95. Cohen A, Hirschhorn R, Horowitz SD, et al. Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency. Proc Natl Acad Sci U S A 1978; 75:472. Dyminski JW, Daoud A, Lampkin BC, et al. Immunological and biochemical profiles in response to transfusion therapy in an adenosine deaminase-deficient patient with severe combined immunodeficiency disease. Clin Immunol Immunopathol 1979; 14:307. Hutton JJ, Wiginton DA, Coleman MS, et al. Biochemical and functional abnormalities in lymphocytes from an adenosine deaminase-deficient patient during enzyme replacement therapy. J Clin Invest 1981; 68:413. Schmalstieg FC, Mills GC, Nelson JA, et al. Limited effect of erythrocyte and plasma infusions in adenosine deaminase deficiency. J Pediatr 1978; 93:597. Ziegler JB, Lee CH, Van der Weyden MB, et al. Severe combined immunodeficiency and adenosine deaminase deficiency: failure of enzyme replacement therapy. Arch Dis Child 1980; 55:452. Lewis V, Twomey JJ, Goldstein G, et al. Circulating thymic-hormone activity in congenital immunodeficiency. Lancet 1977; 2:471. Hershfield MS, Buckley RH, Greenberg ML, et al. Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. N Engl J Med 1987; 316:589. Hershfield MS. PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency. Hum Mutat 1995; 5:107. Chan B, Wara D, Bastian J, et al. Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). Clin Immunol 2005; 117:133. Rubinstein A, Albert Einstein College of Medicine, 2010, personal communication. Chaffee S, Mary A, Stiehm ER, et al. IgG antibody response to polyethylene glycol-modified adenosine deaminase in patients with adenosine deaminase deficiency. J Clin Invest 1992; 89:1643.

Chan B, Wara D, Bastian J, et al. Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). Clin Immunol 2005; 117:133. Rubinstein A, Albert Einstein College of Medicine, 2010, personal communication. Chaffee S, Mary A, Stiehm ER, et al. IgG antibody response to polyethylene glycol-modified adenosine deaminase in patients with adenosine deaminase deficiency. J Clin Invest 1992; 89:1643. Lainka E, Hershfield MS, Santisteban I, et al. polyethylene glycol-conjugated adenosine deaminase (ADA) therapy provides temporary immune reconstitution to a child with delayed-onset ADA deficiency. Clin Diagn Lab Immunol 2005; 12:861. Levy Y, Hershfield MS, Fernandez-Mejia C, et al. Adenosine deaminase deficiency with late onset of recurrent infections: response to treatment with polyethylene glycol-modified adenosine deaminase. J Pediatr 1988; 113:312. Somech R, Lai YH, Grunebaum E, et al. Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency. J Allergy Clin Immunol 2009; 124:848. Bax BE, Bain MD, Fairbanks LD, et al. A 9-yr evaluation of carrier erythrocyte encapsulated adenosine deaminase (ADA) therapy in a patient with adult-type ADA deficiency. Eur J Haematol 2007; 79:338. Blaese RM, Culver KW, Miller AD, et al. T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years. Science 1995; 270:475. Bordignon C, Notarangelo LD, Nobili N, et al. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients. Science 1995; 270:470. Onodera M, Ariga T, Kawamura N, et al. Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency. Blood 1998; 91:30. Parkman R, Weinberg K, Crooks G, et al. Gene therapy for adenosine deaminase deficiency. Annu Rev Med 2000; 51:33. Aiuti A, Slavin S, Aker M, et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 2002; 296:2410. Kohn DB, Hershfield MS, Carbonaro D, et al. T lymphocytes with a normal ADA gene accumulate after transplantation of transduced autologous umbilical cord blood CD34+ cells in ADA-deficient SCID neonates. Nat Med 1998; 4:775.

Aiuti A, Slavin S, Aker M, et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 2002; 296:2410. Kohn DB, Hershfield MS, Carbonaro D, et al. T lymphocytes with a normal ADA gene accumulate after transplantation of transduced autologous umbilical cord blood CD34+ cells in ADA-deficient SCID neonates. Nat Med 1998; 4:775. Aiuti A, Cattaneo F, Galimberti S, et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med 2009; 360:447. Ferrua F, Brigida I, Aiuti A. Update on gene therapy for adenosine deaminase-deficient severe combined immunodeficiency. Curr Opin Allergy Clin Immunol 2010; 10:551. Sauer AV, Aiuti A. New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapy. Curr Opin Allergy Clin Immunol 2009; 9:496. Cappelli B, Aiuti A. Gene therapy for adenosine deaminase deficiency. Immunol Allergy Clin North Am 2010; 30:249. Candotti F, Shaw KL, Muul L, et al. Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. Blood 2012; 120:3635. Kohn, D, David Feffen School of Medicine at University of California Los Angeles, 2012, personal communication. Aiuti A, Vai S, Mortellaro A, et al. Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement. Nat Med 2002; 8:423. Carbonaro DA, Jin X, Wang X, et al. Gene therapy/bone marrow transplantation in ADA-deficient mice: roles of enzyme-replacement therapy and cytoreduction. Blood 2012; 120:3677. Sauer AV, Morbach H, Brigida I, et al. Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy. J Clin Invest 2012; 122:2141. Rubinstein A, unpublished data, 1979. Hong R, Schulte-Wissermann H, Horowitz S, et al. Cultured thymic epithelium (CTE) in severe combined immunodeficiency. Transplant Proc 1978; 10:201. Joachims ML, Marble PA, Laurent AB, et al. Restoration of adenosine deaminase-deficient human thymocyte development in vitro by inhibition of deoxynucleoside kinases. J Immunol 2008; 181:8153. Cowan MJ, Wara DW, Ammann AJ. Deoxycytidine therapy in two patients with adenosine deaminase deficiency and severe immunodeficiency disease. Clin Immunol Immunopathol 1985; 37:30. Topic 3910 Version 10.0

Joachims ML, Marble PA, Laurent AB, et al. Restoration of adenosine deaminase-deficient human thymocyte development in vitro by inhibition of deoxynucleoside kinases. J Immunol 2008; 181:8153. Cowan MJ, Wara DW, Ammann AJ. Deoxycytidine therapy in two patients with adenosine deaminase deficiency and severe immunodeficiency disease. Clin Immunol Immunopathol 1985; 37:30. Topic 3910 Version 10.0 © 2013 UpToDate, Inc. All rights reserved. | Subscription and License Agreement | Release: 21.6- C21.56 Licensed to: AsanBook Dig. Med. Lib. | Support Tag: [1004-58.240.98.179-EF0CD76C64-S244013.14]