Research Directions in Genetic Predispositions to Stevens-Johnson Syndrome / Toxic Epidermal Necrolysis

Teri A Manolio¹, Carolyn M Hutter¹, Mark Avigan², Ricardo Cibotti³, Robert L Davis⁴, Joshua C Denny⁵, Lois La Grenade², Lisa M Wheatley⁶, Mary N Carrington⁷, Wasun Chantratita⁸, Wen-Hung Chung⁹, Andrea D Dalton¹⁰, Shuen-Iu Hung¹¹, Ming Ta Michael Lee¹², J Steven Leeder¹³, Juan J L Lertora¹⁴, Surakameth Mahasirimongkol¹⁵, Howard L McLeod¹⁶, Maja Mockenhaupt¹⁷, Michael Pacanowski², Elizabeth J Phillips^{18

19}, Simone Pinheiro², Munir Pirmohamed²⁰, Cynthia Sung²¹, Wimon Suwankesawong²², Lauren Trepanier²³, Santa J Tumminia²⁴, David Veenstra²⁵, Rika Yuliwulandari²⁶, Neil H Shear²⁷

Affiliations

¹ Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, Maryland, USA.
² Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Silver Spring, Maryland, USA.
³ Division of Skin and Rheumatic Diseases, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
⁴ Center for Biomedical Informatics, University of Tennessee Health Science Center, Memphis, Tennessee, USA.
⁵ Departments of Biomedical Informatics and Medicine, Vanderbilt University, Nashville, Tennessee, USA.
⁶ Division of Allergy, Immunology, and Transplantation, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA.
⁷ Cancer and Inflammation Program, Laboratory of Experimental Immunology, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA and Ragon Institute of MGH, MIT and Harvard, Cambridge, Massachusetts, USA.
⁸ Medical Genomic Center, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
⁹ Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospitals, Taipei, Linkou, and Keelung, and College of Medicine, Chang Gung University, Taoyuan, Taiwan.
¹⁰ Stevens-Johnson Syndrome Foundation, Westminster, Colorado, USA.
¹¹ Institute and Department of Pharmacology, National Yang-Ming University, Taipei, Taiwan.
¹² Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
¹³ Division of Clinical Pharmacology, Toxicology and Therapeutic Innovation, Children's Mercy Hospital, Kansas City, Missouri, USA.
¹⁴ Clinical Pharmacology Program, National Institutes of Health Clinical Center, Bethesda, Maryland, USA.
¹⁵ Medical Genetics Center, Medical Life Sciences Institute, Department of Medical Sciences, Ministry of Public Health, Nonthaburi, Thailand.
¹⁶ DeBartolo Family Personalized Medicine Institute, Moffitt Cancer Center, Tampa, Florida, USA.
¹⁷ Dokumentationszentrum schwerer Hautreaktionen (dZh), Department of Dermatology, Medical Center and Medical Faculty - University of Freiburg, Freiburg, Germany.
¹⁸ Department of Medicine, Pharmacology, Oates Institute for Experimental Therapeutics, Department of Pathology, Microbiology and Immunology, Vanderbilt University, Nashville, Tennessee, USA.
¹⁹ Institute for Immunology and Infectious Diseases, Murdoch University, Murdoch, Australia.
²⁰ Institute of Translational Medicine, University of Liverpool, Liverpool, UK.
²¹ Duke-National University of Singapore Medical School, Singapore.
²² Health Product Vigilance Center, Thai Food and Drug Administration, Nonthaburi, Thailand.
²³ School of Veterinary Medicine, University of Wisconsin Madison, Madison, Wisconsin, USA.
²⁴ Office of the Director, National Eye Institute, Bethesda, Maryland, USA.
²⁵ Department of Pharmacy, University of Washington, Seattle, Washington, USA.
²⁶ YARSI Research Institute, YARSI University, Jakarta, Indonesia.
²⁷ Department of Medicine (Dermatology and Clinical Pharmacology and Toxicology), University of Toronto, Toronto, Canada.

PMID: 29105735
PMCID: PMC5805563
DOI: 10.1002/cpt.890

Review

Research Directions in Genetic Predispositions to Stevens-Johnson Syndrome / Toxic Epidermal Necrolysis

Teri A Manolio et al. Clin Pharmacol Ther. 2018 Mar.

. 2018 Mar;103(3):390-394.

doi: 10.1002/cpt.890. Epub 2017 Nov 6.

Authors

Affiliations

¹ Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, Maryland, USA.
² Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Silver Spring, Maryland, USA.
³ Division of Skin and Rheumatic Diseases, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, USA.
⁴ Center for Biomedical Informatics, University of Tennessee Health Science Center, Memphis, Tennessee, USA.
⁵ Departments of Biomedical Informatics and Medicine, Vanderbilt University, Nashville, Tennessee, USA.
⁶ Division of Allergy, Immunology, and Transplantation, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA.
⁷ Cancer and Inflammation Program, Laboratory of Experimental Immunology, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA and Ragon Institute of MGH, MIT and Harvard, Cambridge, Massachusetts, USA.
⁸ Medical Genomic Center, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
⁹ Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospitals, Taipei, Linkou, and Keelung, and College of Medicine, Chang Gung University, Taoyuan, Taiwan.
¹⁰ Stevens-Johnson Syndrome Foundation, Westminster, Colorado, USA.
¹¹ Institute and Department of Pharmacology, National Yang-Ming University, Taipei, Taiwan.
¹² Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
¹³ Division of Clinical Pharmacology, Toxicology and Therapeutic Innovation, Children's Mercy Hospital, Kansas City, Missouri, USA.
¹⁴ Clinical Pharmacology Program, National Institutes of Health Clinical Center, Bethesda, Maryland, USA.
¹⁵ Medical Genetics Center, Medical Life Sciences Institute, Department of Medical Sciences, Ministry of Public Health, Nonthaburi, Thailand.
¹⁶ DeBartolo Family Personalized Medicine Institute, Moffitt Cancer Center, Tampa, Florida, USA.
¹⁷ Dokumentationszentrum schwerer Hautreaktionen (dZh), Department of Dermatology, Medical Center and Medical Faculty - University of Freiburg, Freiburg, Germany.
¹⁸ Department of Medicine, Pharmacology, Oates Institute for Experimental Therapeutics, Department of Pathology, Microbiology and Immunology, Vanderbilt University, Nashville, Tennessee, USA.
¹⁹ Institute for Immunology and Infectious Diseases, Murdoch University, Murdoch, Australia.
²⁰ Institute of Translational Medicine, University of Liverpool, Liverpool, UK.
²¹ Duke-National University of Singapore Medical School, Singapore.
²² Health Product Vigilance Center, Thai Food and Drug Administration, Nonthaburi, Thailand.
²³ School of Veterinary Medicine, University of Wisconsin Madison, Madison, Wisconsin, USA.
²⁴ Office of the Director, National Eye Institute, Bethesda, Maryland, USA.
²⁵ Department of Pharmacy, University of Washington, Seattle, Washington, USA.
²⁶ YARSI Research Institute, YARSI University, Jakarta, Indonesia.
²⁷ Department of Medicine (Dermatology and Clinical Pharmacology and Toxicology), University of Toronto, Toronto, Canada.

PMID: 29105735
PMCID: PMC5805563
DOI: 10.1002/cpt.890

Abstract

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is one of the most devastating of adverse drug reactions (ADRs) and was, until recently, essentially unpredictable. With the discovery of several risk alleles for drug-induced SJS/TEN and the demonstration of effectiveness of screening in reducing incidence, the stage is set for implementation of preventive strategies in populations at risk. Yet much remains to be learned about this potentially fatal complication of commonly used drugs.

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Figures

**Figure**
Global frequency of drug-specific HLA alleles. Allele frequencies in percents are shown in red for *HLA-B*57:01*, in blue for *HLA-B*58:01*, and in black for *HLA-B*15:02*.

See this image and copyright information in PMC

References

1. Pan RY, Dao RL, Hung SI, Chung WH. Pharmacogenomic advances in the prediction and prevention of cutaneous idiosyncratic drug reactions. Clin Pharmacol Ther. 2017 Mar 15; doi: 10.1002/cpt.683. - DOI - PubMed
1. Peter JG, Lehloenya R, Dlamini S, Risma K, White KD, Konvinse KC, Phillips EJ. Severe delayed cutaneous and systemic reactions to drugs: A global perspective on the science and art of current practice. J Allergy Clin Immunol Pract. 2017 May-Jun;5(3):547–563. - PMC - PubMed
1. Chung WH, Hung SI, Hong HS, Hsih MS, Yang LC, Ho HC, Wu JY, Chen YT. Medical genetics: a marker for Stevens-Johnson syndrome. Nature. 2004 Apr 1;428(6982):486. - PubMed
1. Paulmann M, Mockenhaupt M. Severe drug hypersensitivity reactions: Clinical pattern, diagnosis, etiology and therapeutic options. Curr Pharm Des. 2016;22(45):6852–6861. - PubMed
1. Hsu DY, Brieva J, Silverberg NB, Silverberg JI. Morbidity and mortality of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in United States adults. J Invest Dermatol. 2016 Jul;136(7):1387–97. - PubMed

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Research Directions in Genetic Predispositions to Stevens-Johnson Syndrome / Toxic Epidermal Necrolysis

Affiliations

Research Directions in Genetic Predispositions to Stevens-Johnson Syndrome / Toxic Epidermal Necrolysis

Authors

Affiliations

Abstract

Figures

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical