Drug hypersensitivity: pharmacogenetics and clinical syndromes.
Drug hypersensitivity: pharmacogenetics and clinical syndromes.
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DOI：
10.1016/j.jaci.2010.11.046
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发表时间：
2011-03
期刊：
影响因子：
--
通讯作者：
Mallal SA
中科院分区：
文献类型：
--
作者：
Phillips EJ;Chung WH;Mockenhaupt M;Roujeau JC;Mallal SA
重度皮肤不良反应（SCAR）包括药物反应、嗜酸性粒细胞增多和全身症状（DRESS）或药物诱导的超敏反应综合征（DIHS）和Stevens-Johnson综合征/中毒性表皮坏死松解症（SJS/TEN）等综合征。一个重要的进展是发现了HLA等位基因与许多这些综合征之间的关联，包括阿巴卡韦超敏反应、别嘌呤醇DRESS/DIHS和SJS/TEN以及与芳香胺抗惊厥药相关的SJS/TEN。这些HLA相关性为通过筛查进行预防创造了希望，并进一步阐明了SCAR的免疫发病机制。将HLA-B*5701作为预防阿巴卡韦超敏反应的遗传筛查试验推广到常规临床实践中，为其他药物提供了转化路线图。卡马西平等其他几种药物的广泛应用存在许多障碍，其中HLA-B*1502的阳性预测值较低，而HLA-B*1502对SJS/TEN的阴性预测值在所有种族中可能不是100%。国际合作联盟已经形成，目标是发展表型标准化，并在不同人群中进行HLA和全基因组分析。
Severe cutaneous adverse reactions (SCARs) include syndromes such as drug reaction, eosinophilia and systemic symptoms (DRESS) or drug-induced hypersensitivity syndrome (DIHS) and Stevens-Johnson Syndrome/Toxic epidermal necrolysis (SJS/TEN). An important advance has been the discovery of associations between HLA alleles and many of these syndromes including abacavir hypersensitivity reaction, allopurinol DRESS/DIHS and SJS/TEN and SJS/TEN associated with aromatic amine anticonvulsants. These HLA associations have created the promise for prevention through screening and have additionally shed further light on the immunopathogenesis of SCARs. The roll-out of HLA-B*5701 into routine clinical practice as a genetic screening test to prevent abacavir hypersensitivity provides a translational roadmap for other drugs. Numerous hurdles exist in the widespread translation of several other drugs such as carbamazepine where the positive predictive value of HLA-B*1502 is low and the negative predictive value of HLA-B*1502 for SJS/TEN may not be 100% in all ethnic groups. International collaborative consortia have been formed with the goal of developing phenotype standardization and undertaking HLA and genome-wide analyses in diverse populations with these syndromes.
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影响因子：
3.8
作者：
Littera, Roberto;Carcassi, Carlo;Manconi, Paolo Emilio
通讯作者：
Manconi, Paolo Emilio
DOI：
10.1073/pnas.0409500102
发表时间：
2005-03-15
影响因子：
11.1
作者：
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通讯作者：
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2.8
作者：
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影响因子：
13.8
作者：
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通讯作者：
Roujeau, Jean-Claude
影响因子：
82.9
作者：
Chung, Wen-Hung;Hung, Shuen-Iu;Chen, Yuan-Tsong
通讯作者：
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