medigraphic.com
ISSN 1405-1699 (Impreso)
Órgano Oficial del Colegio Mexicano de Alergia, Asma e Inmunología Pediátrica y de la Asociación Latinoamericana de Pediatría

2012, Número 1

<< Anterior Siguiente >>

Alerg Asma Inmunol Pediatr 2012; 21 (1)


Síndromes de inestabilidad cromosómica asociados con inmunodeficiencia: Aspectos citogenéticos de importancia en el diagnóstico

Navarrete MMP, Pérez VP, Cruz AR

Idioma: Español
Referencias bibliográficas: 52
Paginas: 13-22
Archivo PDF: 180.96 Kb.


RESUMEN

Los síndromes de inestabilidad cromosómica son causados por fallas en la reparación del ADN y en la respuesta ante daño. Estas enfermedades pertenecen al grupo de inmunodeficiencias primarias asociadas a síndromes bien definidos, debido a que presentan alteraciones en el sistema inmunitario. Adicionalmente muestran alteraciones en la estructura y comportamiento de los cromosomas, por lo que su identificación requiere métodos citogenéticos. El diagnóstico de estos desórdenes representa un reto ya que involucra la participación de especialistas tanto en Inmunología como en Genética. En este trabajo se hace una revisión de los síndromes: Ataxia Telangiectasia, Nijmegen, Bloom e ICF, enfatizando en los aspectos citogenéticos, a fin de ofrecer información sobre las bases del diagnóstico de estas enfermedades.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol 2010; 125: S182-194.

  2. Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel MD, Conley ME et al. Primary immunodeficiency diseases: 2009 update. International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies. J Allergy Clin Immunol 2009; 124: 1161-1178.

  3. de Vries E, Driessen G. Educational paper: Primary immunodeficiencies in children: a diagnostic challenge. Eur J Pediatr 2011; 170(2): 169-177.

  4. Ming JE, Stiehm ER, Graham JM Jr. Immunodeficiency as a component of recognizable syndromes. Am J Med Genet 1996; 66(4): 378-398.

  5. Ming JE, Stiehm ER, Graham JM Jr. Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities. Crit Rev Clin Lab Sci 2003; 40(6): 587-642.

  6. Simonte SJ, Cunningham-Rundles C. Update on primary immunodeficiency: defects of lymphocytes. Clin Immunol 2003; 109(2): 109-118.

  7. Kersseboom R, Brooks A, Weemaes C. Educational paper: syndromic forms of primary immunodeficiency. Eur J Pediatr 2011; 170(3): 295-308.

  8. Sancar A, Lindsey-Boltz LA, Unsal-Kacmaz K, Linn S. Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints. Annu Rev Biochem 2004; 73: 39-85.

  9. Meek K, Gupta S, Ramsden DA, Lees-Miller SP. The DNA-dependent protein kinase: the director at the end. Immunol Rev 2004; 200: 132-141.

  10. Lamarche BJ, Orazio NI, Weitzman MD. The MRN complex in double-strand break repair and telomere maintenance. FEBS Lett 2010; 584(10): 3682-3695.

  11. Pfeiffer P, Goedecke W, Obe G. Mechanisms of DNA double-strand break repair and their potential to induce chromosomal aberrations. Mutagenesis 2000; 15(4): 289-302.

  12. Kerzendorfer C, O’Driscoll M. Human DNA damage response and repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency. DNA Repair 2009; 8(9): 1139-1152.

  13. KÜhne C, TjÖrnhammar ML, Pongor S, Banks L, Simoncsits A. Repair of a minimal DNA double-strand break by NHEJ requires DNA-PKcs and is controlled by the ATM/ATR checkpoint. Nucleic Acids Res 2003; 31(24): 7227-7237.

  14. Jackson SP. Sensing and repairing DNA double-strand breaks. Carcinogenesis 2002; 23(5): 687-96.

  15. Gennery AR, Cant AJ, Jeggo PA. Immunodeficiency associated with DNA repair defects. Clin Exp Immunol 2000; 121(1): 1-7.

  16. Gennery AR. Primary immunodeficiency syndromes associated with defective DNA double-strand break repair. Br Med Bull 2006; 77-78: 71-85.

  17. Gennery AR, O`Driscoll M. Unravelling the web of DNA repair disorders. Clin Exp Immunol 2003; 134(3): 385-7.

  18. Slatter MA, Gennery AR. Primary immunodeficiencies associated with DNA-repair disorders. Expert Rev Mol 2011; 8(12): e9.

  19. Cross I, Wolstenholme J. An introduction to human chromosomes and their analysis. En: D. E. Rooney, Ed. Human Cytogenetics: constitutional analysis. A practical apporach. 3ª Ed, Nueva York, Oxford University Press, 2001: 1-31.

  20. Miller OJ, Therman E. General features of mitotic chromosomes, En: O. J. Miller, E. Therman, Ed. Human Chromosomes. Nueva York, Springer-Verlag, 2001, pp. 45-56

  21. Swanson CP, Merz T, Young WJ. Cytogenetics. The chromosome in division, inheritance and evolution. Englewood Cliffs, Prentice-Hall Inc. 1981: 1-19.

  22. Verma RS, Babu A. Human chromosomes. Manual of basic techniques. EUA, Pergamon Press, 1989: 45-140

  23. Howell RT. Chromosome instability syndromes, En: D. E. Rooney, Ed. Human Cytogenetics: malignancy and acquired abnormalities. 3 ªEd. Nueva York, Oxford University Press, 2001: 227-253.

  24. Benn PA, Tantravahi U. Chromosome staining and banding techniques, En: D. E. Rooney, Ed. Human Cytogenetics: constitutional analysis. A practical approach. Nueva York, Oxford University Press, 2001: 99-127.

  25. Trask BJ. Human cytogenetics: 46 chromosomes, 46 years and counting. Nature 2002; 3: 769-779.

  26. Miller OJ, Therman E. Chromosome bands, En: O. J. Miller, E. Therman Ed. Human Chromosomes. Nueva York, Springer-Verlag, 2001: 79-92.

  27. Shaffer LG, Slovak ML, Campbell LJ. An International System of Human Cytogenetic Nomenclature. Suiz, Karger, 2009: 138.

  28. Brown MG, Lawce HJ. Peripheral blood cytogenetic methods, En: Barch MJ, Knutsen T, Spurbeck JL, Eds. The AGT cytogenetics laboratory manual. Filadelfia, Lippincott-Raven, 1997: 77-87.

  29. Gardner-McKinlay RJ, Sutherland GR. Chromosome abnormalities and genetic counseling. 3ª Ed. Nueva York, Oxford University Press, 2004: 301-308.

  30. Hada M, Huff JL, Patel ZS, Kawata T, Pluth JM, George KA et al. AT cells are not radiosensitive for simple chromosomal exchanges at low dose. Mutat Res 2011; 716(1-2): 76-83.

  31. Latt SA. Sister chromatid exchanges, indices of human chromosome damage and repair: Detection by fluorescence and induction by mitomycin C. Proc Nat Acad Sci 1974; 71(8): 3162-3166.

  32. Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair 2004; 3(8-9): 1187-1196.

  33. Pollard JM, Gatti RA. Clinical radiation sensitivity with DNA repair disorders: an overview. Int J Radiat Oncol Biol Phys 2009; 74(5): 1323-1331.

  34. Gennery AR, Cant AJ, Jeggo PA. Immunodeficiency associated with DNA repair defects. Clin Exp Immunol 2000; 121: 1-7.

  35. Kurz EU, Lees-Miller SP. DNA damage-induced activation of ATM and ATM-dependent signaling pathways. DNA Repair 2004; 3(8-9): 889-900.

  36. Concannon P, Gatti RA. Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum Mutat 1997; 10(2): 100-7.

  37. Huret JL. Ataxia telangiectasia. Atlas Genet Cytogenet Oncol Haematol. April 1998. URL:http://AtlasGeneticsOncology.org/Kprones/ataxia.html Uhrhammer N, Bay JO, Gatti RA. Ataxia telangiectasia. Atlas Genet Cytogenet Oncol Haematol. October 1999. URL: http://AtlasGeneticsOncology.org/Kprones/ataxia.html Uhrhammer N, Bay JO, Gatti RA. Ataxia telangiectasia. Atlas Genet Cytogenet Oncol Haematol. October 2002. URL: http://AtlasGeneticsOncology.org/Kprones/ataxia.html

  38. Pérez-Vera P, Gónzalez-del Ángel A, Molina B, Gómez L, Frías S, Gatti RA, Carnevale A. Chromosome instability with bleomycin and X-ray hypersensivity in a boy with Nijmegen breakage syndrome. Am J Med Genet 1997; 70: 24-27.

  39. Gersen SL, Keagle MB. The principles of clinical cytogenetics. 2ª Ed. Nueva Jersey, Human Press. 2005: 347-360.

  40. Difilippantonio S, Nussenzweig A. The NBS1-ATM connection revisited. Cell Cycle 2007; 6(19): 2366-2370.

  41. Stracker TH, Theunissen JW, Morales M, Petrini JH. The Mre11 complex and the metabolism of chromosome breaks: the importance of communicating and holding things together. DNA Repair 2004; 3(8-9): 845-854.

  42. Stracker TH, Petrini JH. The MRE11 complex: starting from the ends. Nat Rev Mol Cell Biol 2011; 12(2): 90-103.

  43. Kobayashi J, Antoccia A, Tauchi H, Matsuura S, Komatsu K. NBS1 and its functional role in the DNA damage response. DNA Repair 2004; 3(8-9): 855-861.

  44. BÜrger S, Schindler D, Fehn M, MÜhl B, Mahrhofer H, Flentje M et al. Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay. Environ Mol Mutagen 2006; 47(4): 260-270.

  45. Huang L, Snyder AR, Morgan WF. Radiation-induced genomic instability and its implications for radiation carcinogenesis. Oncogene 2003; 22(37): 5848-54.

  46. German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA. Syndrome-causing mutations of the BLM gene in persons in the Bloom’s Syndrome Registry. Hum Mutat 2007; 28(8): 743-753.

  47. Singh DK, Ahn B, Bohr VA. Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging. Biogerontology 2009; 10(3): 235-252.

  48. Wechsler T, Newman S, West SC. Aberrant chromosome morphology in human cells defective for Holliday junction resolution. Nature 2011; 471(7340): 642-646.

  49. Tikoo S, Sengputa S. Time to Bloom. Genom Integrity 2010; 1: 14.

  50. Ehrlich M, Jackson K, Weemaes C. Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF). Orphanet J Rare Dis 2006; 1: 1-9.

  51. Ehrlich M. The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease. Clinical Immunol 2003; 109(1): 17-28.

  52. Coria-Ramírez E, Espinosa-Padilla S, Espinosa-Rosales F, Vargas-Camaño ME, Blancas-Galicia L. An overview of primary immunodeficiency in Mexico. Rev Alerg Mex 2010; 57(5): 159-163.




2020     |     www.medigraphic.com