Prakt. Lékáren. 2015; 11(6e) [Dermatol. praxi. 2015;9(3):124-127]

Recent findings of immunogenetics in relation to the development of serious drug-induced skin reactions

Břetislav Lipový
Klinika popálenin a rekonstrukční chirurgie FN Brno
Lékařská fakulta Masarykova Univerzita Brno

Toxická epidermální nekrolýza (TEN) a Stevens-Johnsonův syndrom (SJS) patří do širší skupiny závažných polékových kožních reakcí(SCARs – Severe cutaneous adverse reactions). Do této skupiny patří také DRESS (Drug reaction with eosinophilia and systemic symptoms)a DIHS (Drug induced hypersenzitivity syndrome). V průběhu posledního desetiletí dochází k progresi povědomí o patofyziologické povazejednotlivých syndromů a mechanizmů účinku léků, které k rozvoji těchto stavů vedou. Díky případům nakupení těchto stavů u příbuznýchpacientů se došlo k názoru, že za řadou SCARs může být genetická predispozice (zejména v oblasti hlavního histokopatibilníhokomplexu-MHC). Z tohoto pohledu jsou nejlépe prozkoumané zejména antikonvulziva (lamotrigin, fenytoin, karbamazepin), allopurinol,či některá antiretrovirotika (nevirapin). Následující přehledový článek se pokouší shrnout nejaktuálnější informace z této oblasti.

Keywords: toxic epidermal necrolysis, Stevens-Johnson syndrome, HLA system

Published: September 1, 2015  Show citation

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Lipový B. Recent findings of immunogenetics in relation to the development of serious drug-induced skin reactions. Praktické lékárenství. 2015;11(E-verze 6/15):.
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    References

    1. Bastuji-Garin S, Rzany B, Stern RS, Shear H, Naldi L, Roujeau JC. Clinical classification of cases of toxic epidermal necrolysis, Stevens-Johnson syndrome, and erythema multiforme. Archives of Dermatology. 1993; 129(1): 92-96. Go to original source... Go to PubMed...
    2. Mahar PD, Wasiak J, Hii B, Cleland H, Watters DA, Gin D, Spinks AB. A systematic review of the management and outcome of toxic epidermal necrolysis treated in burns centres. Burns. 2014; 40(7): 1245-1254. doi: 10.1016/j.burns.2014.02.006. Go to original source... Go to PubMed...
    3. Roujeau JC, Stern RS. Severe adverse cutaneous reactions to drugs. N Engl J Med. 1994; 331(19): 1272-1285. Go to original source... Go to PubMed...
    4. Lyell A. Toxic epidermal necrolysis: an eruption resembling scalding of the skin. Br J Dermatol. 1956; 68(11): 355-361. Go to original source... Go to PubMed...
    5. Ward KE, Archambault R, Mersfelder TL, Archambault, Mersfelder. "Severe adverse skin reactions to nonsteroidal antiinflammatory drugs: A review of the literature". American Journal of Health-System Pharmacy. 2010; 67(3): 206-213. doi: 10.2146/ajhp080603. Go to original source... Go to PubMed...
    6. Lipový B, Klosová H, Tokarik M, Kempný T, Chaloupková Z, Štětínský J, Brychta P, Brož L, Němečková Crkvenjaš Z. Severe bullous diseases in the Czech Republic. Epidemiology Reports 2014; 2: 5. doi: 10.7243/2054-9911-2-5. Go to original source...
    7. Koh W, Tay Y, Koh M. Danazol-induced Stevens-Johnson syndrome in a patient with systemic lupus erythematosus. Dermatol Online J. 2015; 21(1). pii: 13030/qt24v513b9. Go to original source...
    8. Shuster M, Do D, Nambudiri V. Severe cutaneous adverse reaction to telaprevir. Dermatol Online J. 2015; 21(1). pii: 13030/qt2zq8z9zt. Go to original source...
    9. Gecks T, Prochnau D, Franz M, Jung C, Kühnert H, Schliemann S, Figulla HR. Toxic Epidermal Necrolysis During Dronedarone Treatment: First Report of a Severe Serious Adverse Event Of A New Antiarrhythmic Drug. Cardiovasc Toxicol. 2015 Jan 15. [Epub ahead of print]. Go to original source... Go to PubMed...
    10. Jeudy G, Dalac-Rat S, Bonniaud B, Hervieu A, Petrella T, Collet E, Vabres P. Successful switch to dabrafenib after vemurafenib-induced toxic epidermal necrolysis. Br J Dermatol. 2014 Nov 10. doi: 10.1111/bjd.13522. [Epub ahead of print]. Go to original source... Go to PubMed...
    11. Gomulka J, Wilson BD, Joyce JC. Toxic epidermal necrolysis due to voriconazole: case report and review. Dermatol Online J. 2014; 20(9). pii: 13030/qt2pt32578. Go to original source...
    12. Cheng CY, Su SC, Chen CH, Chen WL, Deng ST, Chung WH. HLA associations and clinical implications in T-cell mediated drug hypersensitivity reactions: an updated review. J Immunol Res. 2014; 2014: 565320. doi: 10.1155/2014/565320. Go to original source... Go to PubMed...
    13. Leckband SG, Kelsoe JR, Dunnenberger HM, George AL Jr, Tran E, Berger R, Müller DJ, Whirl-Carrillo M, Caudle KE, Pirmohamed M; Clinical Pharmacogenetics Implementation Consortium. Clinical Pharmacogenetics Implementation Consortium guidelines for HLA-B genotype and carbamazepine dosing. Clin Pharmacol Ther. 2013; 94(3): 324-328. doi: 10.1038/clpt.2013.103. Go to original source... Go to PubMed...
    14. Wang Q, Zhou JQ, Zhou LM, Chen ZY, Fang ZY, Chen SD, Yang LB, Cai XD, Dai QL, Hong H, Wang HX. Association between HLA-B*1502 allele and carbamazepine-induced severe cutaneous adverse reactions in Han people of southern China mainland. Seizure. 2011; 20(6): 446-448. doi: 10.1016/j.seizure.2011.02.003. Go to original source... Go to PubMed...
    15. Locharernkul C, Shotelersuk V, Hirankarn N. Pharmacogenetic screening of carbamazepine-induced severe cutaneous allergic reactions. J Clin Neurosci. 2011; 18(10): 1289-1294. doi: 10.1016/j.jocn.2010.12.054. Go to original source... Go to PubMed...
    16. 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 Jan; 39 (Database issue): D913-919. doi: 10.1093/nar/gkq1128. Go to original source... Go to PubMed...
    17. Khor AH, Lim KS, Tan CT, Wong SM, Ng CC. HLA-B*15:02 association with carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in an Indian population: a pooled-data analysis and meta-analysis. Epilepsia. 2014 Nov; 55 (11): e120-124. doi: 10.1111/epi.12802. Go to original source... Go to PubMed...
    18. McCormack M, Alfirevic A, Bourgeois S, Farrell JJ, Kasperaviči?t? D, Carrington M, Sills GJ, Marson T, Jia X, de Bakker PI, Chinthapalli K, Molokhia M, Johnson MR, O'Connor GD, Chaila E, Alhusaini S, Shianna KV, Radtke RA, Heinzen EL, Walley N, Pandolfo M, Pichler W, Park BK, Depondt C, Sisodiya SM, Goldstein DB, Deloukas P, Delanty N, Cavalleri GL, Pirmohamed M. HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med. 2011; 364(12): 1134-1143. doi: 10.1056/NEJMoa1013297. Go to original source... Go to PubMed...
    19. Ozeki T, Mushiroda T, Yowang A, Takahashi A, Kubo M, Shirakata Y, Ikezawa Z, Iijima M, Shiohara T, Hashimoto K, Kamatani N, Nakamura Y. Genome-wide association study identifies HLA-A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population. Hum Mol Genet. 2011; 20(5): 1034-1041. doi: 10.1093/hmg/ddq537. Go to original source... Go to PubMed...
    20. Genin E, Chen DP, Hung SI, Sekula P, Schumacher M, Chang PY, Tsai SH, Wu TL, Bellón T, Tamouza R, Fortier C, Toubert A, Charron D, Hovnanian A, Wolkenstein P, Chung WH, Mockenhaupt M, Roujeau JC. HLA-A*31:01 and different types of carbamazepine-induced severe cutaneous adverse reactions: an international study and meta-analysis. Pharmacogenomics J. 2014; 14(3): 281-288. doi: 10.1038/tpj.2013.40. Go to original source... Go to PubMed...
    21. Kim SH, Lee KW, Song WJ, Kim SH, Jee YK, Lee SM, Kang HR, Park HW, Cho SH, Park SH, Min KU, Chang YS; Adverse Drug Reaction Research Group in Korea. Carbamazepine-induced severe cutaneous adverse reactions and HLA genotypes in Koreans. Epilepsy Res. 2011; 97(1-2): 190-197. doi: 10.1016/j.eplepsyres.2011.08.010. Go to original source... Go to PubMed...
    22. Kaniwa N, Saito Y, Aihara M, Matsunaga K, Tohkin M, Kurose K, Furuya H, Takahashi Y, Muramatsu M, Kinoshita S, Abe M, Ikeda H, Kashiwagi M, Song Y, Ueta M, Sotozono C, Ikezawa Z, Hasegawa R; JSAR research group. HLA-B*1511 is a risk factor for carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients. Epilepsia. 2010 Dec; 51 (12): 2461-2465. doi: 10.1111/j.1528-1167.2010.02766.x. Go to original source... Go to PubMed...
    23. Wei CY, Chung WH, Huang HW, Chen YT, Hung SI. Direct interaction between HLA-B and carbamazepine activates T cells in patients with Stevens-Johnson syndrome. J Allergy Clin Immunol. 2012; 129(6): 1562-9.e5. doi: 10.1016/j.jaci.2011.12.990. Go to original source... Go to PubMed...
    24. Amstutz U, Shear NH, Rieder MJ, Hwang S, Fung V, Nakamura H, Connolly MB, Ito S, Carleton BC; CPNDS clinical recommendation group. Recommendations for HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions. Epilepsia. 2014; 55(4): 496-506. doi: 10.1111/epi.12564. Go to original source... Go to PubMed...
    25. Cheung YK, Cheng SH, Chan EJ, Lo SV, Ng MH, Kwan P. HLA-B alleles associated with severe cutaneous reactions to antiepileptic drugs in Han Chinese. Epilepsia. 2013; 54(7): 1307-1314. doi: 10.1111/epi.12217. Go to original source... Go to PubMed...
    26. Park HJ, Kim SR, Leem DW, Moon IJ, Koh BS, Park KH, Park JW, Lee JH. Clinical features of and genetic predisposition to drug-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in a single Korean tertiary institution patients-investigating the relation between the HLA -B*4403 allele and lamotrigine. Eur J Clin Pharmacol. 2015; 71(1): 35-41. doi: 10.1007/s00228-014-1764-0. Go to original source... Go to PubMed...
    27. Fricke-Galindo I, Martínez-Juárez IE, Monroy-Jaramillo N, Jung-Cook H, Falfán-Valencia R, Ortega-Vázquez A, Alonso-Vilatela ME, López-López M. HLA-A*02:01:01/-B*35:01:01/-C*04:01:01 haplotype associated with lamotrigine-induced maculopapular exanthema in Mexican Mestizo patients. Pharmacogenomics. 2014; 15(15): 1881-1891. doi: 10.2217/pgs.14.135. Go to original source... Go to PubMed...
    28. Hershfield MS, Callaghan JT, Tassaneeyakul W, Mushiroda T, Thorn CF, Klein TE, Lee MT. Clinical Pharmacogenetics Implementation Consortium guidelines for human leukocyte antigen-B genotype and allopurinol dosing. Clin Pharmacol Ther. 2013; 93(2): 153-158. doi: 10.1038/clpt.2012.209. Go to original source... Go to PubMed...
    29. Hung SI, Chung WH, Liou LB, Chu CC, Lin M, Huang HP, Lin YL, Lan JL, Yang LC, Hong HS, Chen MJ, Lai PC, Wu MS, Chu CY, Wang KH, Chen CH, Fann CS, Wu JY, Chen YT. 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. Go to original source... Go to PubMed...
    30. Somkrua R, Eickman EE, Saokaew S, Lohitnavy M, Chaiyakunapruk N. Association of HLA-B*5801 allele and allopurinol-induced Stevens Johnson syndrome and toxic epidermal necrolysis: a systematic review and meta-analysis. BMC Med Genet. 2011; 12: 118. doi: 10.1186/1471-2350-12-118. Go to original source... Go to PubMed...
    31. Kaniwa N, Saito Y, Aihara M, Matsunaga K, Tohkin M, Kurose K, Sawada J, Furuya H, Takahashi Y, Muramatsu M, Kinoshita S, Abe M, Ikeda H, Kashiwagi M, Song Y, Ueta M, Sotozono C, Ikezawa Z, Hasegawa R; JSAR research group. 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. doi: 10.2217/14622416.9.11.1617. Go to original source... Go to PubMed...
    32. Lonjou C, Borot N, Sekula P, Ledger N, Thomas L, Halevy S, Naldi L, Bouwes-Bavinck JN, Sidoroff A, de Toma C, Schumacher M, Roujeau JC, Hovnanian A, Mockenhaupt M; RegiSCAR study group. 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. doi: 10.1097/FPC.0b013e3282f3ef9c. Go to original source... Go to PubMed...
    33. Gonçalo M, Coutinho I, Teixeira V, Gameiro AR, Brites MM, Nunes R, Martinho A. HLA-B*58:01 is a risk factor for allopurinol-induced DRESS and Stevens-Johnson syndrome/toxic epidermal necrolysis in a Portuguese population. Br J Dermatol. 2013; 169(3): 660-5. doi: 10.1111/bjd.12389. Go to original source... Go to PubMed...
    34. Jung JW, Song WJ, Kim YS, Joo KW, Lee KW, Kim SH, Park HW, Chang YS, Cho SH, Min KU, Kang HR. HLA-B58 can help the clinical decision on starting allopurinol in patients with chronic renal insufficiency. Nephrol Dial Transplant. 2011; 26(11): 3567-3572. doi: 10.1093/ndt/gfr060. Go to original source... Go to PubMed...
    35. Kang HR, Jee YK, Kim YS, Lee CH, Jung JW, Kim SH, Park HW, Chang YS, Jang IJ, Cho SH, Min KU, Kim SH, Lee KW; Adverse Drug Reaction Research Group in Korea. Positive and negative associations of HLA class I alleles with allopurinol-induced SCARs in Koreans. Pharmacogenet Genomics. 2011; 21(5): 303-307. doi: 10.1097/FPC.0b013e32834282b8. Go to original source... Go to PubMed...
    36. Chantarangsu S, Mushiroda T, Mahasirimongkol S, Kiertiburanakul S, Sungkanuparph S, Manosuthi W, Tantisiriwat W, Charoenyingwattana A, Sura T, Chantratita W, Nakamura Y. HLA-B*3505 allele is a strong predictor for nevirapine-induced skin adverse drug reactions in HIV-infected Thai patients. Pharmacogenet Genomics. 2009; 19(2): 139-146. doi: 10.1097/FPC.0b013e32831d0faf. Go to original source... Go to PubMed...
    37. Ciccacci C, Di Fusco D, Marazzi MC, Zimba I, Erba F, Novelli G, Palombi L, Borgiani P, Liotta G. Association between CYP2B6 polymorphisms and Nevirapine-induced SJS/TEN: a pharmacogenetics study. Eur J Clin Pharmacol. 2013; 69(11): 1909-1916. doi: 10.1007/s00228-013-1549-x. Go to original source... Go to PubMed...
    38. Shapiro M, Ward KM, Stern JJ. A near-fatal hypersensitivity reaction to abacavir: case report and literature review. AIDS Read. 2001; 11(4): 222-226. Go to PubMed...
    39. Hetherington S, Hughes AR, Mosteller M, Shortino D, Baker KL, Spreen W, Lai E, Davies K, Handley A, Dow DJ, Fling ME, Stocum M, Bowman C, Thurmond LM, Roses AD. Genetic variations in HLA-B region and hypersensitivity reactions to abacavir. Lancet. 2002; 359(9312): 1121-1122. Go to original source... Go to PubMed...
    40. Mallal S, Nolan D, Witt C, Masel G, Martin AM, Moore C, Sayer D, Castley A, Mamotte C, Maxwell D, James I, Christiansen FT. 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. Go to original source... Go to PubMed...

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