2021
DOI: 10.2147/pgpm.s289869
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Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype

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Cited by 2 publications
(2 citation statements)
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“…The first whole-exome sequencing (WES) of SJS-TEN patients identified combinations of frequently occurring and rare variants that contribute to the disease's pathogenesis. NAT2, CYP2D8, CYP2B6, ABCC2, UGT2B7 and TCF3 variants are potential PGx markers of drug-specific SJS-TEN [202].…”
Section: Immunopharmacogenomics and Cutaneous Adrsmentioning
confidence: 99%
“…The first whole-exome sequencing (WES) of SJS-TEN patients identified combinations of frequently occurring and rare variants that contribute to the disease's pathogenesis. NAT2, CYP2D8, CYP2B6, ABCC2, UGT2B7 and TCF3 variants are potential PGx markers of drug-specific SJS-TEN [202].…”
Section: Immunopharmacogenomics and Cutaneous Adrsmentioning
confidence: 99%
“…Notably, the variants associated with HLA-C expression have not been reported for SJS. Basic research on the genetics of SJS and TEN to date has focused on HLA, the system associated with the presence of specific receptors, cytotoxic proteins, and the part of immunocytes during disease pathogenesis [23]. Considering the global impact of SJS, examining the distribution of HLA-C variants may be an essential quest that allows further understanding of global disease susceptibility.…”
Section: Allele Frequencies Of Sjs Candidate Variants Across Continentsmentioning
confidence: 99%