Recent advances in the genetics and immunology of Stevens-Johnson syndrome and toxic epidermal necrosis

Journal of Dermatological Science

Volumn 66, Issue 3, 2012, Pages 190-196

  Chung, Wen Hung ^a   Hung, Shuen Iu ^b  

^a CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

1502; Granylysin; HLA B; Keratinocyte apoptosis; Severe cutaneous adverse drug reactions; Stevens Johnson syndrome; Toxic epidermal necrosis

Indexed keywords

ALLOPURINOL; CARBAMAZEPINE; CHEMOKINE RECEPTOR CCR10; CHEMOKINE RECEPTOR CCR3; CHEMOKINE RECEPTOR CXCR3; CHEMOKINE RECEPTOR CXCR4; CORTICOSTEROID; CYCLOSPORIN; DEXAMETHASONE; FAS ANTIGEN; FAS LIGAND; GAMMA INTERFERON; GRANULYSIN; GRANZYME B; HLA B ANTIGEN; IMMUNOGLOBULIN G; INTERLEUKIN 10; INTERLEUKIN 12; INTERLEUKIN 13; INTERLEUKIN 15; INTERLEUKIN 18; INTERLEUKIN 2; INTERLEUKIN 5; INTERLEUKIN 6; LEUKOCYTE ANTIGEN; PERFORIN; TUMOR NECROSIS FACTOR ALPHA;

ADVERSE OUTCOME; ALLELE; ANTIGEN PRESENTATION; BINDING AFFINITY; CELL ACTIVATION; CELL DEATH; CLINICAL FEATURE; CYTOTOXIC T LYMPHOCYTE; DIGESTIVE SYSTEM ULCER; DISEASE CONTROL; DISEASE SEVERITY; DRUG CYTOTOXICITY; DRUG MEGADOSE; DRUG PULSE THERAPY; ENZYME ACTIVITY; ETHNICITY; GENE INTERACTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HOST RESISTANCE; HUMAN; HYPOMAGNESEMIA; IMMUNE RESPONSE; IMMUNOLOGY; IMMUNOMODULATION; KERATINOCYTE; LEUKOPENIA; MORBIDITY; PATHOGENESIS; POSTERIOR REVERSIBLE ENCEPHALOPATHY SYNDROME; PRIORITY JOURNAL; RARE DISEASE; REVIEW; SEPSIS; SIDE EFFECT; SIGNAL TRANSDUCTION; SKIN DISEASE; STEVENS JOHNSON SYNDROME; TOXIC EPIDERMAL NECROLYSIS;

CYTOKINES; DRUG HYPERSENSITIVITY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; SIGNAL TRANSDUCTION; SKIN; STEVENS-JOHNSON SYNDROME; T-LYMPHOCYTES, CYTOTOXIC;

EID: 84861339439     PISSN: 09231811     EISSN: 1873569X     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2012.04.002     Document Type: Review

References (74)

1. Nassif A., Bensussan A., Boumsell L., Deniaud A., Moslehi H., Wolkenstein P., et al. Toxic epidermal necrolysis: effector cells are drug-specific cytotoxic T cells. J Allergy Clin Immunol 2004, 114:1209-1215.
2. Roujeau J.C. The spectrum of Stevens-Johnson syndrome and toxic epidermal necrolysis: a clinical classification. J Invest Dermatol 1994, 102:28S-30S.
3. Auquier-Dunant A., Mockenhaupt M., Naldi L., Correia O., Schroder W., Roujeau J.C. Correlations between clinical patterns and causes of erythema multiforme majus, Stevens-Johnson syndrome, and toxic epidermal necrolysis: results of an international prospective study. Arch Dermatol 2002, 138:1019-1024.
4. Roujeau J.C., Stern R.S. Severe adverse cutaneous reactions to drugs. N Engl J Med 1994, 331:1272-1285.
5. Rzany B., Mockenhaupt M., Baur S., Schroder W., Stocker U., Mueller J., et al. Epidemiology of erythema exsudativum multiforme majus, Stevens-Johnson syndrome, and toxic epidermal necrolysis in Germany (1990-1992): structure and results of a population-based registry. J Clin Epidemiol 1996, 49:769-773.
6. Mockenhaupt M. Epidemiology and causes of severe cutaneous adverse reactions to drugs. Drug hypersensitivity 2007, 18-31. Karger Verlag Basel, [chapter 2]. 1st ed. W. Pichler (Ed.).
7. Gomes E.R., Demoly P. Epidemiology of hypersensitivity drug reactions. Curr Opin Allergy Clin Immunol 2005, 5:309-316.
8. Haber J., Hopman W., Gomez M., Cartotto R. Late outcomes in adult survivors of toxic epidermal necrolysis after treatment in a burn center. J Burn Care Rehabil 2005, 26:33-41.
9. Sotozono C., Ang L.P., Koizumi N., Higashihara H., Ueta M., Inatomi T., et al. New grading system for the evaluation of chronic ocular manifestations in patients with Stevens-Johnson syndrome. Ophthalmology 2007, 114:1294-1302.
10. Mockenhaupt M., Viboud C., Dunant A., Naldi L., Halevy S., Bouwes Bavinck J.N., et al. Stevens-Johnson syndrome and toxic epidermal necrolysis: assessment of medication risks with emphasis on recently marketed drugs. The EuroSCAR-study. J Invest Dermatol 2008, 128:35-44.
11. Zajicek R., Pintar D., Broz L., Suca H., Konigova R. Toxic epidermal necrolysis and Stevens-Johnson syndrome at the Prague Burn Centre 1998-2008. J Eur Acad Dermatol Venereol 2011.
12. Papay J., Yuen N., Powell G., Mockenhaupt M., Bogenrieder T. Spontaneous adverse event reports of Stevens-Johnson syndrome/toxic epidermal necrolysis: detecting associations with medications. Pharmacoepidemiol Drug Saf 2012, 21:289-296.
13. Yang C.Y., Dao R.L., Lee T.J., Lu C.W., Yang C.H., Hung S.I., et al. Severe cutaneous adverse reactions to antiepileptic drugs in Asians. Neurology 2011, 77:2025-2033.
14. Fournier S., Bastuji-Garin S., Mentec H., Revuz J., Roujeau J.C. Toxic epidermal necrolysis associated with Mycoplasma pneumoniae infection. Eur J Clin Microbiol Infect Dis 1995, 14:558-559.
15. Mulvey J.M., Padowitz A., Lindley-Jones M., Nickels R. Mycoplasma pneumoniae associated with Stevens Johnson syndrome. Anaesth Intensive Care 2007, 35:414-417.
16. Paquet P., Pierard G.E. New insights in toxic epidermal necrolysis (Lyell's syndrome): clinical considerations, pathobiology and targeted treatments revisited. Drug Saf 2010, 33:189-212.
17. Viard I., Wehrli P., Bullani R., Schneider P., Holler N., Salomon D., et al. Inhibition of toxic epidermal necrolysis by blockade of CD95 with human intravenous immunoglobulin. Science 1998, 282:490-493.
18. Lissia M., Mulas P., Bulla A., Rubino C. Toxic epidermal necrolysis (Lyell's disease). Burns 2010, 36:152-163.
19. Fromowitz J.S., Ramos-Caro F.A., Flowers F.P. Practical guidelines for the management of toxic epidermal necrolysis and Stevens-Johnson syndrome. Int J Dermatol 2007, 46:1092-1094.
20. Schneck J., Fagot J.P., Sekula P., Sassolas B., Roujeau J.C., Mockenhaupt M. Effects of treatments on the mortality of Stevens-Johnson syndrome and toxic epidermal necrolysis: a retrospective study on patients included in the prospective EuroSCAR Study. J Am Acad Dermatol 2008, 58:33-40.
21. Borchers A.T., Lee J.L., Naguwa S.M., Cheema G.S., Gershwin M.E. Stevens-Johnson syndrome and toxic epidermal necrolysis. Autoimmun Rev 2008, 7:598-605.
22. Chung W.H., Hung S.I., Hong H.S., Hsih M.S., Yang L.C., Ho H.C., et al. Medical genetics: a marker for Stevens-Johnson syndrome. Nature 2004, 428:486.
23. Chung W.H., Hung S.I., Yang J.Y., Su S.C., Huang S.P., Wei C.Y., et al. Granulysin is a key mediator for disseminated keratinocyte death in Stevens-Johnson syndrome and toxic epidermal necrolysis. Nat Med 2008, 14:1343-1350.
24. Roujeau J.C., Huynh T.N., Bracq C., Guillaume J.C., Revuz J., Touraine R. Genetic susceptibility to toxic epidermal necrolysis. Arch Dermatol 1987, 123:1171-1173.
25. *5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol. Proc Natl Acad Sci USA 2005, 102:4134-4139.
26. Hung S.I., Chung W.H., Jee S.H., Chen W.C., Chang Y.T., Lee W.R., et al. Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions. Pharmacogenet Genomics 2006, 16:297-306.
27. *1511 is a risk factor for carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients. Epilepsia 2010, 51:2461-2465.
28. *3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population. Hum Mol Genet 2011, 20:1034-1041.
29. *3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med 2011, 364:1134-1143.
30. *3101 is more strongly associated with carbamazepine-induced drug reaction with eosinophilia and systemic symptoms than with carbamazepine-induced Stevens-Johnson syndrome/toxic epidermal necrolysis [abstract PV130]. Presented at: 5th Drug Hypersensitivity Meeting (Programme & Abstract Book DHM5 2012: P34-35); April 11-14 2012.
31. *5901 is strongly associated with methazolamide-induced Stevens-Johnson syndrome/toxic epidermal necrolysis. Pharmacogenomics 2010, 11:879-884.
32. *1502 allele and antiepileptic drug-induced cutaneous reactions in Han Chinese. Epilepsia 2007, 48:1015-1018.
33. *1502 allele and carbamazepine-induced severe cutaneous adverse reactions in Han people of southern China mainland. Seizure 2011, 20:446-448.
34. *1502 and carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in mainland Han Chinese patients. Eur J Clin Pharmacol 2011, 67:885-887.
35. *1502 and carbamazepine-induced severe cutaneous adverse drug reactions in a Thai population. Epilepsia 2010, 51:926-930.
36. *1502 allele with carbamazepine-induced toxic epidermal necrolysis and Stevens-Johnson syndrome in the multi-ethnic Malaysian population. Int J Dermatol 2011, 50:221-224.
37. Lonjou C., Thomas L., Borot N., Ledger N., de Toma C., LeLouet H., et al. A marker for Stevens-Johnson syndrome...: ethnicity matters. Pharmacogenomics J 2006, 6:265-268.
38. *1502 allele and carbamazepine-induced Stevens-Johnson syndrome among Indians. Indian J Dermatol Venereol Leprol 2009, 75:579-582.
39. Kim S.H., Lee K.W., Song W.J., Jee Y.K., Lee S.M., Kang H.R., et al. Carbamazepine-induced severe cutaneous adverse reactions and HLA genotypes in Koreans. Epilepsy Res 2011, 97:190-197.
40. Chung W.H., Hung S.I., Chen Y.T. Genetic predisposition of life-threatening antiepileptic-induced skin reactions. Expert Opin Drug Saf 2010, 9:15-21.
41. Kaniwa N., Saito Y., Aihara M., Matsunaga K., Tohkin M., Kurose K., et al. HLA-B locus in Japanese patients with anti-epileptics and allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis. Pharmacogenomics 2008, 9:1617-1622.
42. Ikeda H., Takahashi Y., Yamazaki E., Fujiwara T., Kaniwa N., Saito Y., et al. HLA class I markers in Japanese patients with carbamazepine-induced cutaneous adverse reactions. Epilepsia 2010, 51:297-300.
43. Pichler W.J., Naisbitt D.J., Park B.K. Immune pathomechanism of drug hypersensitivity reactions. J Allergy Clin Immunol 2011, 127:S74-S81.
44. Padovan E., Bauer T., Tongio M.M., Kalbacher H., Weltzien H.U. Penicilloyl peptides are recognized as T cell antigenic determinants in penicillin allergy. Eur J Immunol 1997, 27:1303-1307.
45. Pichler W.J. Delayed drug hypersensitivity reactions. Ann Intern Med 2003, 139:683-693.
46. Naisbitt D.J., Britschgi M., Wong G., Farrell J., Depta J.P., Chadwick D.W., et al. Hypersensitivity reactions to carbamazepine: characterization of the specificity, phenotype, and cytokine profile of drug-specific T cell clones. Mol Pharmacol 2003, 63:732-741.
47. Zanni M.P., von Greyerz S., Schnyder B., Brander K.A., Frutig K., Hari Y., et al. HLA-restricted, processing- and metabolism-independent pathway of drug recognition by human alpha beta T lymphocytes. J Clin Invest 1998, 102:1591-1598.
48. 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, in press.
49. Ko T.M., Chung W.H., Wei C.Y., Shih H.Y., Chen J.K., Lin C.H., et al. Shared and restricted T-cell receptor use is crucial for carbamazepine-induced Stevens-Johnson syndrome. J Allergy Clin Immunol 2011, 128:1266-1276. e1211.
50. *1502-bound peptides: implications for the pathogenesis of carbamazepine-induced Stevens-Johnson syndrome. J Allergy Clin Immunol 2007, 120:870-877.
51. Chang H.Y., Cooper Z.A., Swetter S.M., Marinkovich M.P. Kinetics and specificity of fas ligand induction in toxic epidermal necrolysis. Arch Dermatol 2004, 140:242-244.
52. Abe R., Shimizu T., Shibaki A., Nakamura H., Watanabe H., Shimizu H. Toxic epidermal necrolysis and Stevens-Johnson syndrome are induced by soluble Fas ligand. Am J Pathol 2003, 162:1515-1520.
53. Nassif A., Bensussan A., Dorothee G., Mami-Chouaib F., Bachot N., Bagot M., et al. Drug specific cytotoxic T-cells in the skin lesions of a patient with toxic epidermal necrolysis. J Invest Dermatol 2002, 118:728-733.
54. Lowin B., Peitsch M.C., Tschopp J. Perforin and granzymes: crucial effector molecules in cytolytic T lymphocyte and natural killer cell-mediated cytotoxicity. Curr Top Microbiol Immunol 1995, 198:1-24.
55. Posadas S.J., Padial A., Torres M.J., Mayorga C., Leyva L., Sanchez E., 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, 109:155-161.
56. Abe R., Yoshioka N., Murata J., Fujita Y., Shimizu H. Granulysin as a marker for early diagnosis of the Stevens-Johnson syndrome. Ann Intern Med 2009, 151:514-515.
57. Hogg A.E., Bowick G.C., Herzog N.K., Cloyd M.W., Endsley J.J. Induction of granulysin in CD8+ T cells by IL-21 and IL-15 is suppressed by human immunodeficiency virus-1. J Leukoc Biol 2009, 86:1191-1203.
58. Paquet P., Paquet F., Al Saleh W., Reper P., Vanderkelen A., Pierard G.E. Immunoregulatory effector cells in drug-induced toxic epidermal necrolysis. Am J Dermatopathol 2000, 22:413-417.
59. Correia O., Delgado L., Barbosa I.L., Campilho F., Fleming-Torrinha J. Increased interleukin 10, tumor necrosis factor alpha, and interleukin 6 levels in blister fluid of toxic epidermal necrolysis. J Am Acad Dermatol 2002, 47:58-62.
60. Nassif A., Moslehi H., Le Gouvello S., Bagot M., Lyonnet L., Michel L., et al. Evaluation of the potential role of cytokines in toxic epidermal necrolysis. J Invest Dermatol 2004, 123:850-855.
61. Tapia B., Padial A., Sanchez-Sabate E., Alvarez-Ferreira J., Morel E., Blanca M., et al. Involvement of CCL27-CCR10 interactions in drug-induced cutaneous reactions. J Allergy Clin Immunol 2004, 114:335-340.
62. Caproni M., Torchia D., Schincaglia E., Volpi W., Frezzolini A., Schena D., et al. Expression of cytokines and chemokine receptors in the cutaneous lesions of erythema multiforme and Stevens-Johnson syndrome/toxic epidermal necrolysis. Br J Dermatol 2006, 155:722-728.
63. Amato G.M., Travia A., Ziino O. The use of intravenous high-dose immunoglobulins (IGIV) in a case of Stevens-Johnson syndrome. Pediatr Med Chir 1992, 14:555-556.
64. Bachot N., Revuz J., Roujeau J.C. Intravenous immunoglobulin treatment for Stevens-Johnson syndrome and toxic epidermal necrolysis: a prospective noncomparative study showing no benefit on mortality or progression. Arch Dermatol 2003, 139:33-36.
65. Faye O., Roujeau J.C. Treatment of epidermal necrolysis with high-dose intravenous immunoglobulins (IV Ig): clinical experience to date. Drugs 2005, 65:2085-2090.
66. Kardaun S.H., Jonkman M.F. Dexamethasone pulse therapy for Stevens-Johnson syndrome/toxic epidermal necrolysis. Acta Derm Venereol 2007, 87:144-148.
67. Patterson R., Grammer L.C., Greenberger P.A., Lawrence I.D., Zeiss C.R., Detjen P.F., et al. Stevens-Johnson syndrome (SJS): effectiveness of corticosteroids in management and recurrent SJS. Allergy Proc 1992, 13:89-95.
68. Halebian P.H., Corder V.J., Madden M.R., Finklestein J.L., Shires G.T. Improved burn center survival of patients with toxic epidermal necrolysis managed without corticosteroids. Ann Surg 1986, 204:503-512.
69. Paquet P., Nikkels A., Arrese J.E., Vanderkelen A., Pierard G.E. Macrophages and tumor necrosis factor alpha in toxic epidermal necrolysis. Arch Dermatol 1994, 130:605-608.
70. Aoki Y., Kao P.N. Cyclosporin A-sensitive calcium signaling represses NFkappaB activation in human bronchial epithelial cells and enhances NFkappaB activation in Jurkat T-cells. Biochem Biophys Res Commun 1997, 234:424-431.
71. Valeyrie-Allanore L., Wolkenstein P., Brochard L., Ortonne N., Maitre B., Revuz J., et al. Open trial of ciclosporin treatment for Stevens-Johnson syndrome and toxic epidermal necrolysis. Br J Dermatol 2010, 163:847-853.
72. Gijtenbeek J.M., van den Bent M.J., Vecht C.J. Cyclosporine neurotoxicity: a review. J Neurol 1999, 246:339-346.
73. *5701 screening for hypersensitivity to abacavir. N Engl J Med 2008, 358:568-579.
74. *0101 and abrogated by low CD4 T-cell counts. AIDS 2005, 19:97-99.