Genotipificación de HLA-B en pacientes colombianos afectados por el síndrome Stevens-Johnson y la Necrólisis Epidérmica Tóxica

Autor: León Ruiz, Maria Juliana
Přispěvatelé: Restrepo, Carlos M.
Jazyk: Spanish; Castilian
Rok vydání: 2014
Předmět:
Zdroj: 1. Charli Joseph Y, Cruz Fuentes C, Orozco Topete R. Farmacodermias y su relación genotípica. Dermatología Rev Mex 2007;51(2):73-79.
2. Gomes ER, Demoly P. Epidemiology of hypersensitivity drug reactions. Curr Opin Allergy Clin Immunol. 2005;5(4):309-316.
3. Edwards IR, Aronson JK. Adverse drug reactions: definitions, diagnosis, and management. Lancet. 2000;356(9237):1255-1259.
4. Edwards SG, Hubbard V, Aylett S, Wren D. Concordance of primary generalised epilepsy and carbamazepine hypersensitivity in monozygotic twins. Postgrad Med J. 1999;75(889):680-681.
5. Tohkin M, Ishiguro A, Kaniwa N, Saito Y, Kurose K, Hasegawa R. Prediction of severe adverse drug reactions using pharmacogenetic biomarkers. Drug Metab Pharmacokinet. 2010;25(2):122-133.
6. Chung WH, Hung SI. Recent advances in the genetics and immunology of Stevens-Johnson syndrome and toxic epidermal necrosis. J Dermatol Sci. 2012;66(3):190-196.
7. Nickoloff BJ. Saving the skin from drug-induced detachment. Nat Med. 2008;14(12):1311-1313.
8. Harr T, French LE. Toxic epidermal necrolysis and Stevens-Johnson syndrome. Orphanet J Rare Dis. 2010;5:39.
9. Roujeau JC, Stern RS. Severe adverse cutaneous reactions to drugs. N Engl J Med. 1994;331(19):1272-1285.
11. Lonjou C, Thomas L, Borot N, et al. A marker for Stevens-Johnson syndrome ...: ethnicity matters. Pharmacogenomics J. 2006;6(4):265-268.
12. Alfirevic A, Jorgensen AL, Williamson PR, Chadwick DW, Park BK, Pirmohamed M. HLA-B locus in Caucasian patients with carbamazepine hypersensitivity. Pharmacogenomics. 2006;7(6):813-818.
13. Gatanaga H, Honda H, Oka S. Pharmacogenetic information derived from analysis of HLA alleles. Pharmacogenomics. 2008;9(2):207-214.
14. Lee A. Reacciones adversas a los medicamentos. Primera edición ed. Barcelona, España: Pharma Editores; 2007.
15. Mallal S, Nolan D, Witt C, et al. Association between presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir. Lancet. 2002;359(9308):727-732.
16. Mallal S, Phillips E, Carosi G, et al. HLA-B*5701 screening for hypersensitivity to abacavir. N Engl J Med. 2008;358(6):568-579.
17. Naisbitt DJ, Gordon SF, Pirmohamed M, Park BK. Immunological principles of adverse drug reactions: the initiation and propagation of immune responses elicited by drug treatment. Drug Saf. 2000;23(6):483-507.
18. Pirmohamed M, Park BK. Genetic susceptibility to adverse drug reactions. Trends Pharmacol Sci. 2001;22(6):298-305.
19. Aronson JK, Ferner RE. Joining the DoTS: new approach to classifying adverse drug reactions. BMJ. 2003;327(7425):1222-1225.
20. Thien FC. 3. Drug hypersensitivity. Med J Aust. 2006;185(6):333-338.
21. Johansson SG, Bieber T, Dahl R, et al. Revised nomenclature for allergy for global use: Report of the Nomenclature Review Committee of the World Allergy Organization, October 2003. J Allergy Clin Immunol. 2004;113(5):832-836.
22. Thong BY, Leong KP, Tang CY, Chng HH. Drug allergy in a general hospital: Results of a novel prospective inpatient reporting system. Ann Allergy Asthma Immunol. 2003;90(3):342-347.
23. Pichler WJ. Immune mechanism of drug hypersensitivity. Immunol Allergy Clin North Am. 2004;24(3):373-397, v-vi.
24. Pichler WJ. Pharmacological interaction of drugs with antigen-specific immune receptors: the p-i concept. Curr Opin Allergy Clin Immunol. 2002;2(4):301-305.
25. Roujeau JC, Bricard G, Nicolas JF. Drug-induced epidermal necrolysis: Important new piece to end the puzzle. J Allergy Clin Immunol. 2011;128(6):1277-1278.
26. Pichler WJ, Beeler A, Keller M, et al. Pharmacological interaction of drugs with immune receptors: the p-i concept. Allergol Int. 2006;55(1):17-25.
27. Pichler WJ, Adam J, Daubner B, Gentinetta T, Keller M, Yerly D. Drug hypersensitivity reactions: pathomechanism and clinical symptoms. Med Clin North Am. 2010;94(4):645-664, xv.
28. Pichler WJ, Naisbitt DJ, Park BK. Immune pathomechanism of drug hypersensitivity reactions. J Allergy Clin Immunol. 2011;127(3 Suppl):S74-81.
29. Pichler WJ, Yawalkar N, Britschgi M, et al. Cellular and molecular pathophysiology of cutaneous drug reactions. Am J Clin Dermatol. 2002;3(4):229-238.
30. Schnyder B, Pichler WJ. Mechanisms of drug-induced allergy. Mayo Clin Proc. 2009;84(3):268-272.
31. Pichler W, Yawalkar N, Schmid S, Helbling A. Pathogenesis of drug-induced exanthems. Allergy. 2002;57(10):884-893.
32. Landsteiner K, Jacobs J. STUDIES ON THE SENSITIZATION OF ANIMALS WITH SIMPLE CHEMICAL COMPOUNDS. J Exp Med. 1935;61(5):643-656.
33. Schnyder B, Burkhart C, Schnyder-Frutig K, et al. Recognition of sulfamethoxazole and its reactive metabolites by drug-specific CD4+ T cells from allergic individuals. J Immunol. 2000;164(12):6647-6654.
34. Cribb AE, Spielberg SP. Sulfamethoxazole is metabolized to the hydroxylamine in humans. Clin Pharmacol Ther. 1992;51(5):522-526.
35. Lavergne SN, Wang H, Callan HE, Park BK, Naisbitt DJ. Danger conditions increase sulfamethoxazole-protein adduct formation in human antigen-presenting cells. J Pharmacol Exp Ther. 2009;331(2):372-381.
36. Schnyder B, Mauri-Hellweg D, Zanni M, Bettens F, Pichler WJ. Direct, MHC-dependent presentation of the drug sulfamethoxazole to human alphabeta T cell clones. J Clin Invest. 1997;100(1):136-141.
37. Burkhart C, Britschgi M, Strasser I, et al. Non-covalent presentation of sulfamethoxazole to human CD4+ T cells is independent of distinct human leucocyte antigen-bound peptides. Clin Exp Allergy. 2002;32(11):1635-1643.
38. Merk HF. Drug skin metabolites and allergic drug reactions. Curr Opin Allergy Clin Immunol. 2009;9(4):311-315.
39. Baron JM, Merk HF. Drug metabolism in the skin. Curr Opin Allergy Clin Immunol. 2001;1(4):287-291.
40. Segal AR, Doherty KM, Leggott J, Zlotoff B. Cutaneous reactions to drugs in children. Pediatrics. 2007;120(4):e1082-1096.
41. Lissia M, Mulas P, Bulla A, Rubino C. Toxic epidermal necrolysis (Lyell's disease). Burns. 2010;36(2):152-163.
42. Chung WH, Hung SI, Hong HS, et al. Medical genetics: a marker for Stevens-Johnson syndrome. Nature. 2004;428(6982):486.
43. Roujeau JC. The spectrum of Stevens-Johnson syndrome and toxic epidermal necrolysis: a clinical classification. J Invest Dermatol. 1994;102(6):28S-30S.
44. Paul C, Wolkenstein P, Adle H, et al. Apoptosis as a mechanism of keratinocyte death in toxic epidermal necrolysis. Br J Dermatol. 1996;134(4):710-714.
45. Nassif A, Bensussan A, Boumsell L, et al. Toxic epidermal necrolysis: effector cells are drug-specific cytotoxic T cells. J Allergy Clin Immunol. 2004;114(5):1209-1215.
46. Chung WH, Hung SI. Genetic markers and danger signals in stevens-johnson syndrome and toxic epidermal necrolysis. Allergol Int. 2010;59(4):325-332.
47. Chávez-Galán L, Arenas-Del Angel MC, Zenteno E, Chávez R, Lascurain R. Cell death mechanisms induced by cytotoxic lymphocytes. Cell Mol Immunol. 2009;6(1):15-25.
48. Posadas SJ, Padial A, Torres MJ, et al. Delayed reactions to drugs show levels of perforin, granzyme B, and Fas-L to be related to disease severity. J Allergy Clin Immunol. 2002;109(1):155-161.
49. Nassif A, Bensussan A, Dorothée G, et al. Drug specific cytotoxic T-cells in the skin lesions of a patient with toxic epidermal necrolysis. J Invest Dermatol. 2002;118(4):728-733.
50. Chung WH, Hung SI, Yang JY, et al. Granulysin is a key mediator for disseminated keratinocyte death in Stevens-Johnson syndrome and toxic epidermal necrolysis. Nat Med. 2008;14(12):1343-1350.
51. Wehrli P, Viard I, Bullani R, Tschopp J, French LE. Death receptors in cutaneous biology and disease. J Invest Dermatol. 2000;115(2):141-148.
52. Viard I, Wehrli P, Bullani R, et al. Inhibition of toxic epidermal necrolysis by blockade of CD95 with human intravenous immunoglobulin. Science. 1998;282(5388):490-493.
53. Abe R. Toxic epidermal necrolysis and Stevens-Johnson syndrome: soluble Fas ligand involvement in the pathomechanisms of these diseases. J Dermatol Sci. 2008;52(3):151-159.
54. Murata J, Abe R, Shimizu H. Increased soluble Fas ligand levels in patients with Stevens-Johnson syndrome and toxic epidermal necrolysis preceding skin detachment. J Allergy Clin Immunol. 2008;122(5):992-1000.
55. Ronaldson KJ, McNeil JJ. Improving drug safety by locating genetic markers for hypersensitivity reactions. Med J Aust. 2009;190(11):641-643.
56. Germain RN. MHC-dependent antigen processing and peptide presentation: providing ligands for T lymphocyte activation. Cell. 1994;76(2):287-299.
57. Krebs JE, Goldstein ES, Kilpatrick ST. LEWIN'S GENES X. Sudbury, Massachusetts: Jones and Barlett Publishers; 2011.
58. Klein J, Sato A. The HLA system. First of two parts. N Engl J Med. 2000;343(10):702-709.
59. Nussbaum RL, McInnes RR, Willard HF. Thompson & Thompson. Genética en Medicina Vol 7a Edición. España: Elsevier Masson; 2008.
60. Kostyu DD, Hannick LI, Traweek JL, Ghanayem M, Heilpern D, Dawson DV. HLA class I polymorphism: structure and function and still questions. Hum Immunol. 1997;57(1):1-18.
61. Thomson G. HLA population genetics. Baillieres Clin Endocrinol Metab. 1991;5(2):247-260.
62. http://www.ebi.ac.uk/ipd/imgt/hla/.
63. Kaniwa N, Saito Y, Aihara M, et al. HLA-B locus in Japanese patients with anti-epileptics and allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis. Pharmacogenomics. 2008;9(11):1617-1622.
64. Pavlos R, Mallal S, Phillips E. HLA and pharmacogenetics of drug hypersensitivity. Pharmacogenomics. 2012;13(11):1285-1306.
65. Profaizer T, Eckels D. HLA alleles and drug hypersensitivity reactions. Int J Immunogenet. 2012;39(2):99-105.
66. Génin E, Schumacher M, Roujeau JC, et al. Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe. Orphanet J Rare Dis. 2011;6:52.
67. Locharernkul C, Loplumlert J, Limotai C, et al. Carbamazepine and phenytoin induced Stevens-Johnson syndrome is associated with HLA-B*1502 allele in Thai population. Epilepsia. 2008;49(12):2087-2091.
68. Man CB, Kwan P, Baum L, et al. Association between HLA-B*1502 allele and antiepileptic drug-induced cutaneous reactions in Han Chinese. Epilepsia. 2007;48(5):1015-1018.
69. Mehta TY, Prajapati LM, Mittal B, et al. Association of HLA-B*1502 allele and carbamazepine-induced Stevens-Johnson syndrome among Indians. Indian J Dermatol Venereol Leprol. 2009;75(6):579-582.
70. Lonjou C, Borot N, Sekula P, et al. A European study of HLA-B in Stevens-Johnson syndrome and toxic epidermal necrolysis related to five high-risk drugs. Pharmacogenet Genomics. 2008;18(2):99-107.
71. Hung SI, Chung WH, Liou LB, et al. HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol. Proc Natl Acad Sci U S A. 2005;102(11):4134-4139.
72. Mockenhaupt M, Messenheimer J, Tennis P, Schlingmann J. Risk of Stevens-Johnson syndrome and toxic epidermal necrolysis in new users of antiepileptics. Neurology. 2005;64(7):1134-1138.
73. Jeung YJ, Lee JY, Oh MJ, Choi DC, Lee BJ. Comparison of the causes and clinical features of drug rash with eosinophilia and systemic symptoms and stevens-johnson syndrome. Allergy Asthma Immunol Res. 2010;2(2):123-126.
74. Laffitte E, Nenadov Beck M, Hofer M, Hohl D, Panizzon RG. Severe Stevens-Johnson syndrome induced by contrast medium iopentol (Imagopaque). Br J Dermatol. 2004;150(2):376-378.
75. Brown M, Yowler C, Brandt C. Recurrent toxic epidermal necrolysis secondary to iopromide contrast. J Burn Care Res. 2013;34(1):e53-56.
76. F RMaR. GENEPOP (version 1.2): population genetics software for exact tests and ecumenicism. J. Heredity. 1995;86:248-249.
77. Rousset F. Genepop'007: a complete reimplementation of the Genepop software for Windows and Linux. Mol. Ecol. Resources. 2008;8:103-106.
78. Schneider S, Roessli D, Excoffier L. Arlequin: a software for population genetic analysis. Genetics and Biometry Laboratory, University of Geneva, Geneva, Switzerland. 2000.
79. GILLESPIE JH. Population genetics: A concise guide. Second edition. ed. Baltimore, United States of America.: The John Hopkins University press.; 2004.
80. http://www.real-statistics.com/correlation/basic-concepts-correlation/.
81. Excoffier L, Smouse PE, Quattro JM. Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics. 1992;131(2):479-491.
82. Gonzalez-Galarza FF, Christmas S, Middleton D, Jones AR. Allele frequency net: a database and online repository for immune gene frequencies in worldwide populations. Nucleic Acids Res. 2011;39(Database issue):D913-919.
83. Cao K, Hollenbach J, Shi X, Shi W, Chopek M, Fernández-Viña MA. Analysis of the frequencies of HLA-A, B, and C alleles and haplotypes in the five major ethnic groups of the United States reveals high levels of diversity in these loci and contrasting distribution patterns in these populations. Hum Immunol. 2001;62(9):1009-1030.
84. Arias-Murillo YR, Castro-Jimenez MÁ, Ríos-Espinosa MF, López-Rivera JJ, Echeverry-Coral SJ, Martínez-Nieto O. Analysis of HLA-A, HLA-B, HLA-DRB1 allelic, genotipic, and haplotypin frequencies in colombian population. Colombia Médica. 2010;41:336-343.
85. Ossa H, Manrique A, Quintanilla S, Peña A. Polimorfismos del sistema HLA (loci A*, B* y DRB1*) en población colombiana. NOVA-PUBLICACIÓN CIENTÍFICA. 2007;5:25-30.
86. Bermeo S, Guerra M, Alfonso H. Frecuencias de HLA-A, B y DRB1 en una población de Huila-Colombia. Revista Facultad de Salud-RFS. 2010;2(1):9-19.
87. Arrunategui AM, Villegas A, Ocampo LA, Rodríguez LM, Badih A. Frecuencias alélicas, genotípicas y haplotípicas del sistema HLA clase I y clase II en donantes de una población del suroccidente colombiano. Acta Medica Colombiana. 2013;38(1):16-21.
88. Rodríguez L, Giraldo M, García N, et al. Frecuencias alélicas, genotípicas y haplotípicas HLA-A, HLA-B, HLA-DRB1 en donantes fallecidos. Medellín, Colombia. Biomédica. 2007;27:437-547.
89. Fleischhauer K, Zino E. HLA-A,-B and-Cw Allele Frequencies in Two Populations from Colombia. Human Immunology. 2004;65:906-908.
91. Silvera C, Vargas-Alarcon G, Areces C, et al. HLA genes in Wayu Amerindians from Colombia. Immunol Invest. 2011;40(1):92-100.
92. Leeder JS. Mechanisms of idiosyncratic hypersensitivity reactions to antiepileptic drugs. Epilepsia. 1998;39 Suppl 7:S8-16.
93. Chave TA, Mortimer NJ, Sladden MJ, Hall AP, Hutchinson PE. Toxic epidermal necrolysis: current evidence, practical management and future directions. Br J Dermatol. 2005;153(2):241-253.
94. Miyauchi H, Hosokawa H, Akaeda T, Iba H, Asada Y. T-cell subsets in drug-induced toxic epidermal necrolysis. Possible pathogenic mechanism induced by CD8-positive T cells. Arch Dermatol. 1991;127(6):851-855.
95. Correia O, Delgado L, Ramos JP, Resende C, Torrinha JA. Cutaneous T-cell recruitment in toxic epidermal necrolysis. Further evidence of CD8+ lymphocyte involvement. Arch Dermatol. 1993;129(4):466-468.
96. Cribb AE, Spielberg SP. Hepatic microsomal metabolism of sulfamethoxazole to the hydroxylamine. Drug Metab Dispos. 1990;18(5):784-787.
97. Roujeau JC. Immune mechanisms in drug allergy. Allergol Int. 2006;55(1):27-33.
98. Hashizume H, Takigawa M, Tokura Y. Characterization of drug-specific T cells in phenobarbital-induced eruption. J Immunol. 2002;168(10):5359-5368.
99. Naisbitt DJ, Farrell J, Wong G, et al. Characterization of drug-specific T cells in lamotrigine hypersensitivity. J Allergy Clin Immunol. 2003;111(6):1393-1403.
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
DOI: 10.48713/10336_8910
Popis: Las reacciones alérgicas a medicamentos cutáneas severas (RAM) como el Síndrome Stevens Johnson (SJS) y la Necrólisis Epidérmica Tóxica (NET),caracterizadas por exantema, erosión de la piel y las membranas mucosas, flictenas, desprendimiento de la piel secundario a la muerte de queratinocitos y compromiso ocular. Son infrecuentes en la población pero con elevada morbi-mortalidad, se presentan luego de la administración de diferentes fármacos. En Asia se ha asociado el alelo HLA-B*15:02 como marcador genético para SJS. En Colombia no hay datos de la incidencia de estas RAM, ni de la relación con medicamentos específicos o potenciales y tampoco estudios de aproximación genómica de genes de susceptibilidad. Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe cutaneous adverse drug reactions (SCARs) characterized by exanthema, erosion of the skin and mucous membranes, blistering, skin detachment secondary to keratinocyte death, and ocular involvement. There are uncommon in the population but with high morbidity and mortality. In Asia has been associated HLA-B*15:02 allele as a genetic marker for SJS. In Colombia there are no data on the incidence of these SCARs, neither the relationship with potential and specific drugs or genomic studies of susceptibility genes.
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