Abstract:
The present invention provides a method of predicting the risk of a patient for developing adverse drug reactions, particularly Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), or drug hypersensitivity syndrome (HSS). It was discovered that an HLA-13 allele, HLA-B* 1502, is associated with SJS/TEN that is induced by a variety of drugs. The correlation with HLA-B* 1502 is most significant for carbamazepine-induced SJS/TEN, wherein all the patients tested have the HLA-13*1502 allele. In addition, another HLA-13 allele, HLA-B*5801, is particularly associated with SJS/TEN or HSS induced by allopurinol. Milder cutaneous reactions, such as maculopapular rash, erythema multiforme (EM), urticaria, and fixed drug eruption, are particularly associated with a third allele, HLA-13*4601. For any of the alleles, genetic markers (e.g., HLA markers, microsatellite, or single nucleotide polymorphism markers) located between the DRB1 and HLA-A region of the specific HLA-B haplotype can also be used for the test.
Abstract:
The present invention provides a method of predicting the risk of a patient for developing adverse drug reactions, particularly SJS or TEN. It was discovered that an HLA-B allele, HLA-B* 1502, is associated with SJS/TEN that is induced by a variety of drugs. The correlation with HLA-B* 1502 is most significant for carbamazepine-induced SJS/TEN, wherein all the patients tested have the HLA-B* 1502 allele. In addition, another HLA-B allele, HLA-B*5801, is particularly associated with SJS/TEN induced by allopurinol. Milder cutaneous reactions, such as maculopapular rash, erythema multiforme (EM), urticaria, and fixed drug eruption, are particularly associated with a third allele, HLA-B *4601. For any of the alleles, genetic markers (e.g., HLA markers, microsatellite, or single nucleotide polymorphism markers) located between DRB1 and HLA-A region of the specific HLA-B haplotype can also be used for the test.
Abstract:
We present information obtained from the occurrence of psoriasis and its related disease pityriasis rubra pilaris (PRP) in a large, five-generation kindred. Using a genome-wide scan and single nucleotide polymorphism (SNP) fine mapping, the psoriasis/PRP locus was mapped to chromosome 17q terminus, a region close to but distinct from the 17q PSOR2 locus. Moreover, we sequenced the candidate genes in this region, and identified CD7 as the susceptibility gene in this family. Other genetic markers that co-segregate, such as mutations in the FLJ31528 gene, also indicate susceptibility to psoriasis and PRP. Accordingly, compositions and methods of use are provided for the prediction, diagnosis, disease monitoring and therapeutic development of psoriasis and pityriasis rubra pilaris (PRP).
Abstract:
Described is a method of diagnosing, treating, or monitoring a treatment for Kawasaki disease in a subject. The method includes detecting the level of a biomarker in a sample obtained from the subject, the biomarker being IL-7F, sCD40L, MPIF-1, E-selectin, IP-10, or IL-33. The level is compared to a cut-off level. Also described is a kit for carrying out the method.