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HLA-antigens and psoriasiform napkin dermatitis.

HLA typing was performed in 14 patients with psoriasiform napkin dermatitis (PND). Only 2 patients carried one of the three antigens (HLA-B13, B17, Bw37) associated with psoriasis vulgaris. The frequency of these antigens in PND corresponds to that in healthy controls, but differs significantly (p less than 0.01) from that in a population of psoriatics. Our results indicate that patients with PND are not true psoriatics, and that PND and psoriasis are different etiological entities.

Diaper Rash

A cost-effective conventional endpoint PCR assay for HLA-B*13:01 genotyping to guide personalized dapsone therapy in leprosy in low-resource settings.

BACKGROUND: Dapsone is a drug used to treat leprosy. Dapsone causes a highly morbid and potentially fatal severe drug hypersensitivity reaction (DHS) in 1-3% of leprosy cases. The allele HLA-B*13:01 is a known genetic risk factor for DHS. However, resource-intensive genotyping methods preclude its testing in resource-limited settings. This study aimed to develop an endpoint PCR assay to detect the presence of HLA-B*13:01. RESEARCH DESIGN AND METHODS: DNA was extracted from blood samples of leprosy patients at Anandaban Hospital, Nepal (2022-24). A duplex endpoint PCR was optimized and validated against a previously validated commercial qPCR method and NGS (next‑generation sequencing). RESULTS: In 113 samples, duplex PCR showed 100% (95% CI: 79.4-100%) sensitivity and 100% specificity (95% CI: 96.2-100%) compared to the validated qPCR method. The same accuracy was confirmed in 58 NGS-typed samples (concordance 98.3%, 95% CI: 90.7-99.9%). The assay reliably differentiated HLA-B*13:01 from closely related allele. Analytical sensitivity reached a lower detection limit of 100 genome equivalents (0.67 ng DNA/reaction). CONCLUSION: The developed duplex endpoint PCR offers a simple and affordable method for detecting HLA-B*13:01, suitable in low-resource settings. Its use may significantly reduce the risk of DHS by guiding safer drug choices prior to MDT initiation.

Humans

[Mo66, a new allele of the HLA-B locus. Preliminary note (author's transl)].

Mo66 is an allele of the HLA-B locus, which is demonstrated by HLA typing of 2 000 unrealted individuals and the members of eight informative families. Mo66 is a rare antigen, with a frequency of 0.65 % in the Languedocian population. Mo66 shows a strong association desequilibrium with HLA-A3. The identification of Mo66 is difficult, without a monospecific serum, because this antigen is united by cross-reactions above all with HLA-B13, but also with HLA-Bw40, HLA-B27, HLA-B12 and HLA-B7. The presence of an anti-Mo66 antibody in some apparently anti-HLA-B27 monospecific sera can provoke some errors in the diagnosis of ankylosing spondylitis and related diseases.

Alleles

Distribution of HLA histocompatibility antigens, ABO blood groups and Rh antigens in alcoholic liver disease.

The distribution of 16 antigens of the HLA-A and 15 antigens of the HLA-B series of HLA system, the blood groups ABO, and Rh antigens were studied in 40 alcoholics with cirrhosis, 18 alcoholics without cirrhosis, and in normal control subjects. The group of alcoholics with cirrhosis showed a significantly high frequency of HLA-B13 (corrected P less than 0.01) when compared with normal subjects, while the frequency of HLA-B13 was similar to normal in alcoholics without cirrhosis. On the basis of these findings, its seems that the carriers of HLA-B13 are more susceptible to liver damage caused by alcohol. Both groups of alcoholics and the normal controls had a similar distribution of ABO blood groups and Rh antigens.

ABO Blood-Group System

Trimethoprim/sulfamethoxazole-triggered drug-induced hypersensitivity syndrome in an HLA B*13:01-positive kidney transplant recipient: a case report with implications for HLA-severe cutaneous adverse reaction associations in transplant care.

Drug-induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms (DIHS/DRESS) is a severe cutaneous adverse reaction (SCAR) with a reported mortality rate of approximately 2-10%. DIHS/DRESS typically develops 2-8 weeks after exposure to an offending drug. An important focus of contemporary SCAR research is the growing evidence that specific human leukocyte antigen (HLA) alleles confer a markedly increased risk of drug-specific hypersensitivity reactions. We report a case of a kidney transplant recipient who developed DIHS/DRESS after prolonged trimethoprim/sulfamethoxazole (TMP/SMX) prophylaxis and carried the HLA-B13:01 allele. HLA-B13:01 is a strong genetic risk factor for TMP/SMX-induced DIHS/DRESS, particularly in Southeast Asian populations. Herein, we highlight the potential clinical relevance of pre-transplant HLA typing in predicting SCAR risk in transplant recipients. TMP/SMX-associated DIHS/DRESS may be under-recognized in transplant settings, where awareness of HLA-associated risk remains limited despite robust evidence from non-transplant populations. Transplant clinicians should be aware that DIHS/DRESS can occur outside the typical latency period, especially during immunosuppressant tapering, highlighting the need to integrate pharmacogenomic risk assessments into transplant care.

Humans

Population data on two new HLA-D determinants, EI and RE.

Homozygous typing cells (HTC) for two new HLA-D determinants, EI and RE, defined by family studies, are described. The HLA-D typing experiments among more than 300 unrelated individuals showed phenotype frequencies of 0.045 for EI and 0.098 for RE. Since the tested population was also typed for its HLA-A and -B alleles, linkage disequilibrium parameters could be calculated: HLA-D type EI was statistically significantly associated with HLA-B13 and Bw17, HLA-D type RE with HLA-Bw40. These data support the working hypothesis that both EI and RE are new alleles of the HLA-D series.

Alleles

HLA antigens and susceptibility to psoriasis vulgaris in a non-Caucasian population.

Fifty-four unrelated Japanese patients with psoriasis vulgaris were tissue typed using the Sixth International Histocompatibility Workshop antisera. Two control groups were included in this study: Thirty-one pustulosis palmaris et plantaris and 17 seborrheic dermatitis as a disease control and 66 normal, healthy, unrelated Japanses as a reference. HLA-Al (P = 0.0065) from the A locus and HLA-BW37 (P = 0.0164) from the B locus were found to occur with increased frequency in patients with psoriasis vulgaris. No significant difference in antigen frequencies in pustulosis palmaris et plantaris was found, however, HLA-AW30 and/or AW31 and HLA-B12 occurred with increased frequency in seborrheic dermatitis. No linkage between psoriasis and HLA was observed in eight families. Therefore our findings in Japanese do not confirm the previous observation made in Caucasians of an association between psoriasis vulgaris and HLA-B13 or BW17.

Adult

HLA antigens in a Scottish psoriatic population.

Sixty-one patients in the Dundee area suffering from psoriasis were typed for HLA-A and HLA-B antigens. On the basis of the typing results, the patients were divided into three groups, and studied with respect to sex, age of onset and familial incidence of the disease. The frequency of HLA-A1 appeared to be increased and HLA-B7 decreased but HLA-B13 and HLA-B17 were highly significantly increased (P less than 10(-6) and P less than 10(-10) respectively) in the psoriatic group compared to 204 controls. Of particular interest was a highly significant association of HLA-A1 with HLA-B17 in psoriatic patients. Family studies showed HLA-B17 to be a useful genetic marker for psoriasis in the families of B17 positive patients. Considerations of age of onset, familial incidence and typing data suggest that there is heterogeneity of genetic susceptibility to psoriasis and that one probable mechanism is the dominant inheritance of a "disease allele" in linkage disequilibrium with the allele coding for HLA-B17.

Chromosome Mapping

HL-A antigens in pustular psoriasis.

HL-A typing was performed on 97 patients with pustular psoriasis. HLA-B27 was found increased for the combined three subgroups: localized psoriasis of palms and soles, acrodermatitis continua and generalized pustular psoriasis, who were associated with a high incidence of arthritis. These subgroups have this in common with Reiter's disease indicating a link between the entities. In persistent palmo-plantar pustulosis an increased incidence of HLA-Bw35 was found. HLA-B13, HLA-B17 and HLA-Bw37 which are found markedly increased in psoriasis vulgaris were in acrodermatitis continua, generalized pustular psoriasis and persistent palmo-plantar pustulosis either absent or not increased as compared with the control population. 7 of 30 patients with localized psoriasis of palms and soles had one of these antigens. Our findings confirm that psoriasis vulgaris and pustular psoriasis as such, seem to be different aetiological entities. Some patients with localized psoriasis of palms and soles may be true psoriatics which besides their psoriasis have a tendency to develop a pustular reaction in their palms and soles similar to persistent palmo-plantar pustulosis.

Arthritis

HLA gene and haplotype frequencies in the population of southern Poland.

Results of a population study on frequencies of phenotypes and genotypes of the HLA system (locus A and B) in 240 adults, unrelated and of both sexes, living in southern Poland are reported. Frequencies of haplotypes were calculated according to Mattiuz et al. Distribution of all HLA specificities conformed with the Hardy-Weinberg law and was similar to the distribution in other white populations, except HLA-B13 which had a phenotype frequency of 14.17% and gene frequency 7%. Haplotype frequencies and positive and negative association were analogous with those in other white populations.

Alleles