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Volumn 63, Issue 1, 2011, Pages 75-83

Deficiency of adenosine deaaminaae (ADA): Clinical, biochemical, molecular and treatment aspects;Deficiencia de adenosina desaminasa (ADA): Aspectos clínicos, bioquímicos, moleculares y de tratamiento

Author keywords

Adenosine desaminase deficiency; Purine metabolism; Severe combined immunodeficiency disease (SCID)

Indexed keywords

ADENOSINE DEAMINASE; TOXIN;

EID: 79955913504     PISSN: 00348376     EISSN: 00348376     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (60)
  • 1
    • 77949473827 scopus 로고    scopus 로고
    • Primary immunodeficiencies (PIDs) presenting with cytopenias
    • Notarangelo LD. Primary immunodeficiencies (PIDs) presenting with cytopenias. Hematol 2009;139-143.
    • (2009) Hematol , pp. 139-143
    • Notarangelo, L.D.1
  • 2
    • 0040920369 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 102700
    • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: (102700): (2009): URL: http://www.ncbi.nlm.nih.gov/ omim
    • (2009) Online Mendelian Inheritance in Man, OMIM (TM)
  • 3
    • 0018100887 scopus 로고
    • Immunodeficiencies and enzyme deficiencies
    • Mainardi V, Brugo MA, Tassi GC. Immunodeficiencies and enzyme deficiencies. 1st Sieroter Milan 1978;31; 57(2):178-91.
    • (1978) 1st Sieroter Milan , vol.31-57 , Issue.2 , pp. 178-191
    • Mainardi, V.1    Brugo, M.A.2    Tassi, G.C.3
  • 4
    • 0032231355 scopus 로고    scopus 로고
    • Adenosine deaminase deficiency: Genotype-phenotype correlations based on expressed activity of 29 mutant alleles
    • Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS. Adenosine Deaminase Deficiency: Genotype-Phenotype Correlations Based on Expressed Activity of 29 Mutant Alleles. Am J Hum Genet 1998;63:1049-50.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 1049-1050
    • Arredondo-Vega, F.X.1    Santisteban, I.2    Daniels, S.3    Toutain, S.4    Hershfield, M.S.5
  • 6
    • 33646488845 scopus 로고    scopus 로고
    • Severe combined immune deficiency in an adenosine deaminase-deficient patient
    • Ozdemir Oner, M. D. Severe combined immune deficiency in an adenosine deaminase-deficient patient. Allergy Asthma Proc 2006;27:172-4.
    • (2006) Allergy Asthma Proc. , vol.27 , pp. 172-174
    • Ozdemir Oner, M.D.1
  • 7
    • 77954877133 scopus 로고    scopus 로고
    • Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID)
    • Booth C, Gaspar HB. Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID). Biologies: Targets & Therapy 2009;3:349-58.
    • (2009) Biologies: Targets & Therapy , vol.3 , pp. 349-358
    • Booth, C.1    Gaspar, H.B.2
  • 8
    • 0018211984 scopus 로고
    • Clinical delineation of adenosine deaminase deficiency
    • Elliot K, Whelan J Eds., New York: Excerpta Medica
    • Hirschhorn R. Clinical delineation of adenosine deaminase deficiency. In: Elliot K, Whelan J (Eds.) Enzyme Defects and Immune Dysfunction Ciba Foundation Symposium 68. New York: Excerpta Medica; 1979, p. 35.
    • (1979) Enzyme Defects and Immune Dysfunction Ciba Foundation Symposium , vol.68 , pp. 35
    • Hirschhorn, R.1
  • 10
    • 34548274658 scopus 로고    scopus 로고
    • Neurologic abnormalities in patients with adenosine deaminase deficiency
    • DOI 10.1016/j.pediatrneurol.2007.03.011, PII S0887899407002275
    • Nofech-Mozes Y, Blaser SI, Kobayashi J, Grunebaum E, Roifman CM. Neurologic abnormalities in patients with adenosine deaminase deficiency. Pediatr Neurol 2007;37(3):218-21. (Pubitemid 47321056)
    • (2007) Pediatric Neurology , vol.37 , Issue.3 , pp. 218-221
    • Nofech-Mozes, Y.1    Blaser, S.I.2    Kobayashi, J.3    Grunebaum, E.4    Roifman, C.M.5
  • 11
    • 55749109027 scopus 로고    scopus 로고
    • Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies
    • Titman P, Pink E, Skucek E, O'Hanlon K, Cole TJ, Gaspar J, Xu-Bayford, et al. Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies. Blood 2008;112(9):3907-13.
    • (2008) Blood , vol.112 , Issue.9 , pp. 3907-3913
    • Titman, P.1    Pink, E.2    Skucek, E.3    O'Hanlon, K.4    Cole, T.J.5    Gaspar, J.6    Xu-Bayford7
  • 12
    • 0021888349 scopus 로고
    • Pathologic findings in adenosine-deaminase-deficient severe combined immunodeficiency. I. kidney, adrenal, and chondro-osseous tissue alterations
    • Howard, Alba GM, Gallo G, Rimoin, DL, Kamino H, Hirschhorn R. Pathologic Findings in Adenosine-Deaminase-Deficient Severe Combined Immunodeficiency: I. Kidney, Adrenal and Chondro-osseous Tissue Alterations. Am J Pathol 1985;120:157-169. (Pubitemid 15037983)
    • (1985) American Journal of Pathology , vol.120 , Issue.1 , pp. 157-169
    • Ratech, H.1    Greco, M.A.2    Gallo, G.3
  • 15
    • 0024849405 scopus 로고
    • Pathologic findings in adenosine deaminase deficient-severe combined immunodeficiency. II. Thymus, spleen, lymph node, and gastrointestinal tract lymphoid tissue alterations
    • Howard R, Hirschhorn R, Alba GM. Pathologic findings in Adenosine Deaminase Deficient-Severe Combined Immunodeficiency; II. Thymus, spleen, lymph node and gastrointestinal tract lymphoid tissue alterations. Am J Pathol 1989;135:1145-56. (Pubitemid 20026534)
    • (1989) American Journal of Pathology , vol.135 , Issue.6 , pp. 1145-1156
    • Ratech, H.1    Hirschhorn, R.2    Greco, M.A.3
  • 16
    • 0018673801 scopus 로고
    • A simple rapid fluorescent assay for adenosine deaminase activity
    • Vaca G, Sánchez-Corona J, Olivares N, Medica C, Ibarra B, Cantú JM. A simple rapid fluorescent assay for adenosine deaminase activity. Ann Génét 1979;22(3):182-4. (Pubitemid 10213297)
    • (1979) Annales de Genetique , vol.22 , Issue.3 , pp. 182-184
    • Vaca, G.1    Sanchez-Corona, J.2    Olivares, N.3
  • 17
    • 22244455374 scopus 로고    scopus 로고
    • Polyethylene glycol-conjugated adenosine deaminase (ADA) therapy provides temporary immune reconstitution to a child with delayed-onset ADA deficiency
    • DOI 10.1128/CDLI.12.7.861-866.2005
    • Lainka E, Hershfield MS, Santisteban I, Bali P, Seibt A, Neubert J, Friedrich W, Niehues T. 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(7):861-6. (Pubitemid 40993287)
    • (2005) Clinical and Diagnostic Laboratory Immunology , vol.12 , Issue.7 , pp. 861-866
    • Lainka, E.1    Hershfield, M.S.2    Santisteban, I.3    Bali, P.4    Seibt, A.5    Neubert, J.6    Friedrich, W.7    Niehues, T.8
  • 18
    • 84966912328 scopus 로고    scopus 로고
    • Adenosine deaminase deficiency
    • Hershfield M. Adenosine Deaminase Deficiency. Gene Reviews 2006;1-16.
    • (2006) Gene Reviews , pp. 1-16
    • Hershfield, M.1
  • 21
  • 22
    • 0018187599 scopus 로고
    • Characterization of the residual adenosine deaminating activity in the spleen of a patient with combined immunodeficiency disease and adenosine deaminase deficiency
    • Schrader WP, Pollara B, Meuwissen HJ. Characterization of the residual adenosine deaminating activity in the spleen of a patient with combined immunodeficiency disease and adenosine deaminase deficiency. Proc Natl Acad Sci U. S. A 1978;75(1):446-50. (Pubitemid 8287544)
    • (1978) Proceedings of the National Academy of Sciences of the United States of America , vol.75 , Issue.1 , pp. 446-450
    • Schrader, W.P.1    Pollara, B.2    Meuwissen, H.J.3
  • 23
    • 0028292990 scopus 로고
    • An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): Occurrence on different chromosomal backgrounds and apparent intragenic crossover
    • Hirschhorn R, Yang DR, Israni A. An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic Crossover. Ann Hum Genet 1994;58(P1): 1-9. (Pubitemid 24110508)
    • (1994) Annals of Human Genetics , vol.58 , Issue.1 , pp. 1-9
    • Hirschhorn, R.1    Yang, D.R.2    Israni, A.3
  • 25
    • 0029888354 scopus 로고    scopus 로고
    • Adenosine deaminase (ADA) isoenzymes ADA1 and ADA2: Diagnostic and biological role
    • DOI 10.1183/09031936.96.09040632
    • Gakis C. Adenosine deaminase (ADA) isoenzymes ADA1 and ADA2: diagnostic and biological role. Eur Respir J 1996;9:632-3. (Pubitemid 26167862)
    • (1996) European Respiratory Journal , vol.9 , Issue.4 , pp. 632-633
    • Gakis, C.1
  • 26
    • 77956417545 scopus 로고    scopus 로고
    • Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages
    • Zavialov AV, Gracia IE, Glaichenhaus N, Franco R, Zavialov AV, Lauvau G. Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages. J Leukoc Biol 2010;88:1-12.
    • (2010) J. Leukoc Biol. , vol.88 , pp. 1-12
    • Zavialov, A.V.1    Gracia, I.E.2    Glaichenhaus, N.3    Franco, R.4    Zavialov, A.V.5    Lauvau, G.6
  • 27
    • 2442704068 scopus 로고    scopus 로고
    • Embriologia clinica
    • 8a Ed. en espanol. The developing human, Elsevier
    • Moore KL, Persaud TVN. Embriologia clinica. 8a Ed. en espanol. The developing human. Clinically Oriented Embriology. Elsevier; 2008, p. 212-41.
    • (2008) Clinically Oriented Embriology , pp. 212-241
    • Moore, K.L.1    Persaud, T.V.N.2
  • 28
    • 21744462912 scopus 로고    scopus 로고
    • Adenosine deaminase activity in serum and placenta of patients with anembryonic pregnancies and missed abortions
    • DOI 10.1007/s00404-004-0694-y
    • Kutlar I, Aksoy F, Koyluoglu O, Ugur MG, Balat O, Tarakcioglu M. Adenosine deaminase activity in serum and placenta of patients with anembryonic pregnancies and missed abortions. Arch Gynecol Obstet 2005;272(2):124-6. (Pubitemid 40941746)
    • (2005) Archives of Gynecology and Obstetrics , vol.272 , Issue.2 , pp. 124-126
    • Kutlar, I.1    Aksoy, F.2    Koyluoglu, O.3    Ugur, M.G.4    Balat, O.5    Tarakcioglu, M.6
  • 29
    • 0031051882 scopus 로고    scopus 로고
    • Characterization and developmental expression of a testis-specific adenosine deaminase mRNA in the mouse
    • Meng JP, Zhang FP, Huhtaniemi I, Pakarinen P. Characterization and developmental expression of a testis-specific Adenosine Deaminase mRNA in the mouse. J Androl 1997;18(1):88-95. (Pubitemid 27114467)
    • (1997) Journal of Andrology , vol.18 , Issue.1 , pp. 88-95
    • Meng, J.-P.1    Zhang, F.-P.2    Huhtaniemi, I.3    Pakarinen, P.4
  • 30
    • 79955915910 scopus 로고    scopus 로고
    • Review of physiological roles
    • Doleal T. Adenosine deaminase. Review of physiological roles 2001. URL: http://www.entu.cas.cz/fyziol/seminars/ada.html
    • (2001) Adenosine Deaminase
    • Doleal, T.1
  • 31
    • 0040920369 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: {102730}
    • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: {102730}: {2010}: URL: http://www.ncbi.nlm.nih.gov/ omim
    • (2010) Online Mendelian Inheritance in Man, OMIM (TM)
  • 33
    • 0022887765 scopus 로고
    • Complete sequence and structure of the gene for human adenosine deaminase
    • Wiginton DA, Kaplan DJ, States JC, Akeson AL, Perme CM, Bilyk IJ, Vaughn AJ, et al. Complete sequence of the gene for human adenosine deaminase. Biochemistry 1986;16:25 (25):8234-44. (Pubitemid 17233520)
    • (1986) Biochemistry , vol.25 , Issue.25 , pp. 8234-8244
    • Wiginton, D.A.1    Kaplan, D.J.2    States, J.C.3
  • 34
    • 0028237581 scopus 로고
    • Sp1 is essential for both enhancer-mediated and basal activation of the TATA-less human adenosine deaminase promoter
    • Dusing MR, Wiginton DA. Spl is essential for both enhancer-mediated and basal activation of the TATA-less human adenosine deaminase promoter. Nucleic Acids Res 1994;22:669-77. (Pubitemid 24158779)
    • (1994) Nucleic Acids Research , vol.22 , Issue.4 , pp. 669-677
    • Dusing, M.R.1    Wiginton, D.A.2
  • 36
    • 0013878432 scopus 로고
    • Specificity of adenosine deaminase toward adenosine and 2'-deoxyadenosine. Arch 28
    • Frederiksen. Specificity of adenosine deaminase toward adenosine and 2'-deoxyadenosine. Arch 28. Biochem Biophys 1966;113:383-8.
    • (1966) Biochem. Biophys. , vol.113 , pp. 383-388
    • Frederiksen1
  • 38
    • 79955878766 scopus 로고
    • Inmunodeficiencia combinada severa por déficit de la enzima Adenosin-desaminasa
    • Fernández-Mejía C. Inmunodeficiencia combinada severa por déficit de la enzima Adenosin-desaminasa. Inmunologia 1988;7 (2).
    • (1988) Inmunologia , vol.7 , Issue.2
    • Fernández-Mejía, C.1
  • 39
    • 0018765904 scopus 로고
    • In vivo inactivation of erythrocyte S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine in adenosine deaminase-deficient patients
    • Michael S. Hershfield, Kredic NM. In vivo' inactivation of erythrocyte S-Adenosylhomocysteine Hydrolase by 2'-Deoxyadenosine in Adenosine Deaminase-Deficient Patients. J Clin Invest 1979;63:807-11. (Pubitemid 9167052)
    • (1979) Journal of Clinical Investigation , vol.63 , Issue.4 , pp. 807-811
    • Hershfield, M.S.1    Kredich, N.M.2    Ownby, D.R.3
  • 41
    • 24344454692 scopus 로고    scopus 로고
    • Poly ADP-ribosylation by PARP-1: 'PAR-laying' NAD + into a nuclear signal
    • Young K, Tong Z, Lee KW. Poly ADP-ribosylation by PARP-1: 'PAR-laying' NAD + into a nuclear signal. Genes Dev 2005;19:1951-67.
    • (2005) Genes Dev. , vol.19 , pp. 1951-1967
    • Young, K.1    Tong, Z.2    Lee, K.W.3
  • 42
  • 43
    • 0018355271 scopus 로고
    • Apparent suicide inactivation of human lymphoblast S-adenosyl- homocysteine hydrolase by 2'-deoxyadenosine and adenine arabinoside. A basis for direct toxic effects of analogs of adenosine
    • Hershfield MS. Apparent suicide inactivation of human lymphoblast S Adenosylhomocysteine Hydrolase by 2'-Deoxyadenosine and Adenine Arabinoside. J Biolog Chemistry 1979;254:22-5. (Pubitemid 9137439)
    • (1979) Journal of Biological Chemistry , vol.254 , Issue.1 , pp. 22-25
    • Hershfield, M.S.1
  • 44
    • 0029005901 scopus 로고
    • Interference with thymocyte differentiation by an inhibitor of S-adenosylhomocysteine hydrolase
    • Benveniste P, Zhu W, Cohen A. Interference with thymocyte differentiation by an inhibitor of S-adenosylhomocysteine hydrolase. J Immunol 1995;155:536-44.
    • (1995) J. Immunol. , vol.155 , pp. 536-544
    • Benveniste, P.1    Zhu, W.2    Cohen, A.3
  • 46
    • 79955887007 scopus 로고    scopus 로고
    • Role of reduced intensity conditioning in T-cells and B-cell immune reconstitution after HLA-identical bone marrow transplantation in ADA-SCID
    • Cancrini C, Ferrua F, Scarselli A, Brigida I, Romìti ML, Barera G, Finocchi A, et al. Role of reduced intensity conditioning in T-cells and B-cell immune reconstitution after HLA-identical bone marrow transplantation in ADA-SCID. Haematologica 2010;96:1-17.
    • (2010) Haematologica , vol.96 , pp. 1-17
    • Cancrini, C.1    Ferrua, F.2    Scarselli, A.3    Brigida, I.4    Romìti, M.L.5    Barera, G.6    Finocchi, A.7
  • 47
    • 38849111201 scopus 로고    scopus 로고
    • Hematopoietic stem cell transplantation for primary immunodeficiency disease
    • DOI 10.1038/sj.bmt.1705890, PII 1705890
    • Dvorak and MJ Cowan. Hematopoietic stem cell transplantation for primary immunodeficiency Disease. Bone Marrow Transplantation 2008;41:119-26. (Pubitemid 351188908)
    • (2008) Bone Marrow Transplantation , vol.41 , Issue.2 , pp. 119-126
    • Dvorak, C.C.1    Cowan, M.J.2
  • 49
    • 34247153039 scopus 로고    scopus 로고
    • Management options for adenosine deaminase deficiency
    • Booth C, Hershfield M, Notarangelo L, et al. Management options for adenosine deaminase deficiency. Clin Immunol 2007;123(2):139-47.
    • (2007) Clin. Immunol. , vol.123 , Issue.2 , pp. 139-147
    • Booth, C.1    Hershfield, M.2    Notarangelo, L.3
  • 51
    • 0016818302 scopus 로고
    • Restoration of in-vitro lymphocyte responses with exogenous adenosine deaminase in a patient with severe combined immunodeficiency
    • 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;18; 2(7938):743-6.
    • (1975) Lancet , vol.2-18 , Issue.7938 , pp. 743-746
    • Polmar, S.H.1    Wetzler, E.M.2    Stern, R.C.3    Hirschhorn, R.4
  • 53
    • 51549092094 scopus 로고    scopus 로고
    • The impact of PEGylation on biological therapies
    • Veronese FM, Mero A. The impact of PEGylation on biological therapies. BioDrugs 2008;22(5):315-29.
    • (2008) BioDrugs , vol.22 , Issue.5 , pp. 315-329
    • Veronese, F.M.1    Mero, A.2
  • 54
    • 0029081965 scopus 로고
    • PEG-ADA replacement therapy for adenosine deaminase deficiency: An update after 8.5 years
    • Hershfield MS. PEG-ADA replacement therapy for adenosine deaminase deficiency: an update after 8.5 years. Clin Immunol Immunopathol 1995;76(3):P2: S228-S232.
    • (1995) Clin. Immunol. Immunopathol , vol.76 P2 , Issue.3
    • Hershfield, M.S.1
  • 55
    • 33645541888 scopus 로고    scopus 로고
    • Increasing importance of stem cell gene therapy in adenosine deaminase deficiency?
    • Ozdemir O, Niehues. Increasing importance of stem cell gene therapy in adenosine deaminase deficiency? Clin Vaccine Immunol 2006;13(3):433-4.
    • (2006) Clin. Vaccine Immunol. , vol.13 , Issue.3 , pp. 433-434
    • Ozdemir, O.1    Niehues2
  • 56
    • 33644696863 scopus 로고    scopus 로고
    • Cerebral lymphoma in an adenosine deaminase-deficient patient with severe combined immunodeficiency receiving polyethylene glycol-conjugated adenosine deaminase
    • DOI 10.1542/peds.2005-1068
    • Kaufman DA, Hershfield MS, Bocchini JA, Moissidis IJ, Jeroudi M, Bahna SL. Cerebral Lymphoma in an Adenosine Deaminase-Deficient Patient with Severe Combined Immunodeficiency Receiving Polyethylene Glycol-Conjugated Adenosine Deaminase. Pediatrics 2005;116: e876-e879. (Pubitemid 46056469)
    • (2005) Pediatrics , vol.116 , Issue.6
    • Kaufman, D.A.1    Hershfield, M.S.2    Bocchini, J.A.3    Moissidis, I.J.4    Jeroudi, M.5    Bahna, S.L.6
  • 57
    • 49949091947 scopus 로고    scopus 로고
    • Towards a rAAV-based gene therapy for ADA-SCID: From ADA deficiency to current and future treatment strategies
    • Silver JN, Flotte TR. Towards a rAAV-based gene therapy for ADA-SCID: from ADA deficiency to current and future treatment strategies. Pharmacogenomics 2008;9(7):947-68.
    • (2008) Pharmacogenomics , vol.9 , Issue.7 , pp. 947-968
    • Silver, J.N.1    Flotte, T.R.2
  • 59
    • 70449704070 scopus 로고    scopus 로고
    • Progress and prospects: Gene therapy for inherited immunodeficiencies
    • Qasim W, Gaspar HB, Thrasher AJ. Progress and prospects: gene therapy for inherited immunodeficiencies. Gene Therapy 2009;16:1285-129.
    • (2009) Gene Therapy , vol.16 , pp. 1285-1129
    • Qasim, W.1    Gaspar, H.B.2    Thrasher, A.J.3
  • 60
    • 84862833067 scopus 로고    scopus 로고
    • Adenosine deaminase deficiency associated severe combined immunodeficiency with disseminated varicella infection after vaccination: A case report
    • Zhang WX, Zhao W. Adenosine deaminase deficiency associated severe combined immunodeficiency with disseminated varicella infection after vaccination: a case report. Zhonghua Er Ke Za Zhi 2008;46(8):597-600.
    • (2008) Zhonghua Er Ke Za Zhi , vol.46 , Issue.8 , pp. 597-600
    • Zhang, W.X.1    Zhao, W.2


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