medigraphic.com
Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

2011, Número 1

<< Anterior Siguiente >>

Rev Invest Clin 2011; 63 (1)


Deficiencia de Adenosina Desaminasa (ADA): Aspectos clínicos, bioquímicos, moleculares y de tratamiento

Tintos-Hernández JA, Dávalos-Rodríguez IP

Idioma: Español
Referencias bibliográficas: 60
Paginas: 75-83
Archivo PDF: 89.06 Kb.


RESUMEN

La deficiencia de Adenosina Desaminasa (ADA) consiste en un desorden en el metabolismo de las purinas que conduce a una inmunodeficiencia combinada grave (ICG). La falta de la actividad enzimática produce la acumulación de metabolitos tóxicos que afectan la diferenciación, viabilidad y función de los linfocitos, así como alteraciones en todo el organismo, como son: problemas de tipo hepático y renal, esquelético, neurológico, sordera, retraso del crecimiento y convulsiones. Si la respuesta inmune no es restaurada, los niños con esta enfermedad raramente sobreviven, por lo cual es importante considerar la deficiencia de ADA, en niños con dificultad para ganar peso, infecciones recurrentes y anormalidades esqueléticas. La deficiencia de ADA presenta características clínicas e inmunológicas que no se observan en otras inmunodeficiencias, datos que pueden orientar el diagnóstico y terapia oportuna. Esta revisión aborda los hallazgos clínicos, patológicos, moleculares y de tratamiento descritos en esta enfermedad.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Notarangelo LD. Primary immunodeficiencies (PIDs) presenting with cytopenias. Hematol 2009; 139-143.

  2. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: (102700): (2009): URL: http://www.ncbi.nlm.nih.gov/omim/

  3. Mainardi V, Brugo MA, Tassi GC. Immunodeficiencies and enzyme deficiencies. Ist Sieroter Milan 1978; 31; 57(2): 178-91.

  4. 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.

  5. Yee A, De Ravin SS, Eliot E, Ziegler JB. Severe combined immunodeficiency: a national surveillance study. Pediatr Allergy Immunol 2008; 19(4): 298-30.

  6. Ozdemir Oner, M.D. Severe combined immune deficiency in an adenosine deaminase-deficient patient. Allergy Asthma Proc 2006; 27: 172-4.

  7. Booth C, Gaspar HB. Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID). Biologics: Targets & Therapy 2009; 3: 349-58.

  8. 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.

  9. Buckley RH, Schiff RI, Market ML, Williams LW, Harville TO, Roberts JL, Puck, JM. Human severe combined immunodeficiency; genetic, phenotypic and functional diversity in one hundred eight infants. J Pediatr 1997; 130: 378-87.

  10. 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.

  11. 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.

  12. 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.

  13. Scriver, Berudet, Valle, Sly. The metabolic & molecular bases of inherited disease. 8th Ed. Mc Graw Hill; 2001, p. 2513-30, 2585-625.

  14. William L, Nyhan, Bruce A, Barshop, Pinar T. Atlas of Metabolic diseases. 2nd Ed. Hodder Arnold; 2005, p. 452-7.

  15. 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.

  16. 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.

  17. 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.

  18. Hershfield M. Adenosine Deaminase Deficiency. Gene Reviews 2006; 1-16.

  19. Ariga T, Oda N, Sanstisteban I, Arredondo-Vega FX, Shioda M, Ueno H, Terada K, et al. Molecular basis for paradoxical carriers of Adenosine Deaminase(ADA) Deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency. J Immunol 2001; 166: 1698- 1702.

  20. Fischer A, Le Deist F, Hacein-Bey-Abina S, Andre-Schmutz I, Basile Gde S, De Villartay JP, Cavazzana-Calvo M. Severe combined immunodeficiency. A model disease for molecular immunology and therapy. Immunol Rev 2005; 203: 98-109.

  21. Abdullah Alangari, Abdullah Al-Harbi, Abdulaziz Al-Ghonaium, Santisteban I, Hershfield M. Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients. Ann Saudi Med 2009; 29(4): 309-12.

  22. 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.

  23. 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.

  24. Pacheco R, Martínez-Navio JM, Lejeune M, Climent N, Oliva H, Gatell JM, Gallart T, et al. CD26, adenosine deaminase and adenosinereceptors mediate costimulatory signals in the immunological synapse. PNAS 2005; 102(2): 9583-8.

  25. Gakis C. Adenosine deaminase (ADA) isoenzymes ADA1 and ADA2: diagnostic and biological role. Eur Respir J 1996; 9: 632-3.

  26. 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.

  27. Moore KL, Persaud TVN. Embriología clínica. 8a Ed. en español. The developing human. Clinically Oriented Embriology. Elsevier; 2008, p. 212-41.

  28. 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.

  29. 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.

  30. Dole•al T. Adenosine deaminase. Review of physiological roles 2001. URL: http://www.entu.cas.cz/fyziol/seminars/ ada.html

  31. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: {102730}: {2010}: URL: http://www.ncbi.nlm.nih.gov/omim/

  32. Sanchez-Corona J, Garcia-Cruz D, Mendoza C, Cantú JM, Ramos- Zepeda M, Rivas E. Increase adenosine deaminase activity in a patient with cartilage-hair hipoplasia. Ann Géné 1990; 33(2): 99-102.

  33. 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.

  34. Dusing MR, Wiginton DA. Sp1 is essential for both enhancer- mediated and basal activation of the TATA-less human adenosine deaminase promoter. Nucleic Acids Res 1994; 22: 669-77.

  35. Tullo A, Mastropasqua G, Bourdon JC, Centonze P, Gostissa M, Costanzo A, Levrero M, et al. Adenosine deaminase, a key enzyme in DNA precursors control, is a new p73 target. Oncogene 2003; 22: 8738–48.

  36. Frederiksen. Specificity of adenosine deaminase toward adenosine and 2’-deoxyadenosine. Arch 28. Biochem Biophys 1966; 113: 383-8.

  37. Wyngaarden JB, Kelly WN. Gout and Hyperuricemia. New York: Grune & Stratton; 1976, p.512.

  38. Fernández-Mejía C. Inmunodeficiencia combinada severa por déficit de la enzima Adenosin-desaminasa. Inmunologia 1988; 7(2).

  39. 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.

  40. Aldrich MB, Chen W, Blackburn MR, Martinez-Valdez H, Datta SK, Kellems RK. Impaired germinal center maturation in Adenosine Deaminase Deficiency. J Immunol 2003; 171: 5562-70.

  41. 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.

  42. Megan S, Lim and Kojo SJ. Elenitoba-Johnson. The Molecular Pathology of Primary Immunodeficiencies. J Molecular Diagnostics 2004; 6(2): 59-83.

  43. Hershfield MS. Apparent suicide inactivation of human lymphoblast S Adenosylhomocysteine Hydrolase by 2’- Deoxyadenosine and Adenine Arabinoside. J Biolog Chemistry 1979; 254: 22-5.

  44. Benveniste P, Zhu W, Cohen A. Interference with thymocyte differentiation by an inhibitor of S- adenosylhomocysteine hydrolase. J Immunol 1995; 155: 536-44.

  45. Sauer AV, Mrak E, Jofra HR, Zacchi E, Cavani F, Casiraghi M, Grunebaum E, et al. ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency. Blood First Edition Paper, prepublished online. 2009; DOI 10.1182/ blood-2009-03-209221.

  46. Cancrini C, Ferrua F, Scarselli A, Brigida I, Romiti 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.

  47. Dvorak and MJ Cowan. Hematopoietic stem cell transplantation for primary immunodeficiency Disease. Bone Marrow Transplantation 2008; 41: 119-26.

  48. Gaspar HB, Aiuti A, Porta F, Candotti F, Hershfield MS, Notarangelo LD. How I treat ADA deficiency. Blood 2009; 114: 3524-32.

  49. Booth C, Hershfield M, Notarangelo L, et al. Management options for adenosine deaminase deficiency. Clin Immunol 2007; 123(2): 139-47.

  50. Hönig M, Albert MH, Schulz A, Sparber-Sauer M, Schütz C, Belohradsky B, Güngör T, et al. Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. Blood 2007; 109(8): 3595-602.

  51. 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.

  52. 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(4): 338-48.

  53. Veronese FM, Mero A. The impact of PEGylation on biological therapies. BioDrugs 2008; 22(5): 315-29.

  54. 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.

  55. Ozdemir O, Niehues. Increasing importance of stem cell gene therapy in adenosine deaminase deficiency? Clin Vaccine Immunol 2006; 13(3): 433-4.

  56. 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.

  57. 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.

  58. Aiuti A, Cattaneo F, Galimberti S, Benninghoff U, Cassani B, Callegaro L, Scaramuzza S, et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med 2009; 29; 360(5): 518-21.

  59. Qasim W, Gaspar HB, Thrasher AJ. Progress and prospects: gene therapy for inherited immunodeficiencies. Gene Therapy 2009; 16: 1285-129.

  60. 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.




2020     |     www.medigraphic.com