Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The HLA-B*15:02 allele is associated with an increased risk of developing carbamazepine (CBZ)-induced Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).
|
31784043 |
2020 |
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
HLA-A*02:01, HLA-A*24:02, and HLA-B*51:01 showed associations to the increased risk of SJS.
|
31089385 |
2019 |
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, it did assess an outcome of (characteristically severe) hypersensitivity reaction which included (but was not limited to) our secondary outcomes of HSS and SJS/TEN.The study demonstrated that prospective HLA-B*57:01 screening probably reduces the incidence of hypersensitivity reaction to abacavir.
|
31314143 |
2019 |
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Previously, we have reported the association of HLA-A*02:06 and HLA-B*44:03 with cold medicine (CM)-related SJS/TEN with severe ocular complications (SOCs) in the Japanese population.
|
31700100 |
2019 |
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Among the severe cADRs, HLA-B*57:01(OR = 11.00 95% CI: 1.41-85.81) and HLA-DRB1*07:01 (OR = 7.25; 95% CI: 1.09-48.18) were noted to be significantly associated with CBZ-induced Stevens Johnson Syndrome (SJS)/Toxic Epidermal Necrolysis (TEN); HLA-B *51:01 was associated with drug reaction eosinophilia and systemic symptoms (DRESS) caused by PHT (OR = 6.90; 95% CI: 1.38-34.29).
|
30826555 |
2019 |
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
There is a strong relationship between the <i>HLA-B*1502</i> allele and carbamazepine-induced SJS and TEN in different Southeast Asian populations.
|
30018035 |
2018 |
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Additionally, 17 of 49 patients with CM-SJS/TEN with SOC (34.7%) significantly harboured the HLA-B*44:03 and HLA-C*07:01 haplotype compared with only 11 of 159 healthy controls (6.9%) (OR=7.1, p=5.5×10<sup>-6</sup>).
|
29706602 |
2018 |
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The HLA-B*15:02 polymorphism was also strongly associated with the CBZ-SJS subgroup (OR: 152.089, 95% CI: 34.737-665.901) and significantly associated with the CBZ-SJS/TEN subgroup (OR: 13.993, 95% CI: 7.291-26.856).
|
29685430 |
2018 |
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
CONCLUSIONS: Strong associations between the HLA-B*1502 and OXC-cADRs (SJS and maculopapular rash) were found in both controls from general population and OXC-tolerant groups.
|
29370880 |
2018 |
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The variant allele HLA-B*15:02 is strongly associated with greater risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) in patients treated with carbamazepine or oxcarbazepine.
|
29392710 |
2018 |
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
HLA-B*58:01 screening-guided therapy may mitigate the risk of allopurinol-induced SJS/TEN.
|
29176400 |
2018 |
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Human leukocyte antigen class I genes (HLA-A, HLA-B, and HLA-C) were examined to determine whether there was a genetic predisposition for CM-SJS/TEN with SOC.
|
28278336 |
2017 |
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
19 DRESS and 67 SJS/TEN) and 182 allopurinol-tolerant patients were enrolled in the study.The HLA-B*58:01 allele was determined.
|
28509689 |
2017 |
Schwartz-Jampel Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
T-cells from carbamazepine SJS/TEN patients are activated by direct pharmacological interaction between carbamazepine and HLA-B*15:02 expressed on antigen presenting cells (APCs).
|
28017537 |
2017 |
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Screening for <i>HLA-B*15:02</i> is mandated in patients from South East Asia because of a strong association with Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).
|
28203102 |
2017 |
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
In contrast to carbamazepine, which is ethnic/population specific, the HLA-B*5801 for detecting allopurinol-induced TEN/SJS is universal.
|
28857441 |
2017 |
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
In conclusion, we identified several significant genetic risk factors for the first time in the Spanish Caucasian population: HLA-A*02:01/Cw*15:02 combination as a risk factor for PHT-induced SJS/TEN, HLA-B*38:01 for LTG- and PHT- induced SJS/TEN, HLA-A*11:01 for CBZ-induced SJS/TEN, and HLA-A*24:02 for LTG- and PHT- induced DRESS.
|
27888155 |
2017 |
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Positive HLA-B*5801 carriers are at greater risk of experiencing rare but severe allopurinol hypersensitivity syndrome (AHS) [i.e., Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN)]; however, HLA-B*5801 prevalence and AHS risk vary by race/ethnicity.
|
27916277 |
2017 |
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
We also confirmed HLA-B*15:02 association with PHT-SJS/TEN (61.5%, 8/13 cases vs 21.9%, 7/32 controls; OR 5.71, P=0.016) when compared with PHT-tolerant controls.
|
26927288 |
2017 |
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We also found that the haplotypes consisting of HLA-B*44:03 and HLA-C*07:01 were strongly associated with SJS/TEN with SOC in our Indian population (p = 1.1 × 10<sup>-7</sup>, odds ratio = 11.0).
|
29162886 |
2017 |
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
HLA-B*15:02 and HLA-B*15:21 are members of the HLA-B75 serotype, for which a greater frequency was observed in CBZ-induced SJS/TEN (vs tolerant control [p = 0.0078; OR: 12; 95% CI: 1.90-75.72] and vs normal control [p = 0.0018; OR: 8.56; 95% CI: 1.83-40]).
|
29053440 |
2017 |
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The identification of subjects carrying the HLA-B*15:02, an inherited allelic variant of the HLA-B gene, and the avoidance of carbamazepine (CBZ) therapy in these subjects are strongly associated with a decrease in the incidence of carbamazepine-induced SJS/TEN.
|
26951484 |
2016 |
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
In addition, our HLA genotyping results are consistent with previous studies reporting a strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN among Koreans.
|
26655481 |
2016 |
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We developed a novel assay for the detection of the HLA-B*15:02 allele, which is robust, inexpensive and suitable for screening individuals of Asian ancestry in the prevention of CBZ-induced SJS/TEN.
|
27544047 |
2016 |
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
HLA gene frequencies varied in Korea.Screening of HLA-B*58:01 before the use of allopurinol might be needed to anticipate probability of SJS/TEN.
|
26632391 |
2016 |