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关键词： Horse   Sarcoid   MHC   KLRA   Association  

摘要： Although the Major Histocompatibility Complex (MHC) has been repeatedly associated with susceptibility to equine sarcoid, a disease associated with bovine papillomavirus infection, the role of the MHC in the mechanisms of the disease is not fully understood. The objectives of our work were to analyze associations between polymorphic markers of the MHC genomic subregions and of the Natural Killer Complex (NKC) genomic region and the presence of sarcoid in Arabian horses. Microsatellite loci located in the MHC class I, II and III subregions and two MHC class II genes (DRA, DQA1), along with a set of NKC (KLRA, CLEC subregions) microsatelllite markers were genotyped. Fifteen microsatellites of the standard parentage kit, located outside the MHC and NKC regions, were tested as controls. Standard chi-square and Fisher tests with Bonferroni corrections were used for association analyses. Significant associations of MHC class II and MHC class I_KLRA polymorphic markers with the presence of clinical sarcoid were observed. These findings are consistent with biological theory and indicate a role of MHC class I, class II and KLRA molecules in adaptive as well as in innate immune responses to equine sarcoid. Although limited to Arabian horses, these data point to an as yet unadressed hypothesis regarding the possible roles of NK cells in the pathogenesis of equine sarcoid.

关键词： alleles   haplotypes   histocompatibility testing   HLA polymorphism   HLA-B gene  

摘要： HLA-B*27:277 differs from HLA-B*27:05:02:05 by a single substitution in exon 6.

关键词： Beh & ccedil   et's disease   clinical manifestations   gender differences   genetics   HLA-B51  

摘要： HLA-B51 is well-established as a genetic risk factor for the development of Beh & ccedil;et's disease (BD), and its association with certain clinical manifestations has been documented. However, there is a lack of comprehensive research examining its role in the overall symptom completeness and full clinical expression of the disease. We performed a retrospective review of medical records from 1203 patients treated at a tertiary hospital between June 2012 and June 2017. Data regarding HLA-B51 status and clinical conditions were extracted, and patients were classified according to the "Revised Japanese Diagnostic Criteria for Beh & ccedil;et's disease (1987)", resulting in 878 patients diagnosed with complete (n = 250) and incomplete (n = 628) BD. Among these patients, 400 (45.6%) were tested positive for HLA-B51, with the positivity rate progressively increasing with the severity of symptoms. Male patients exhibited a higher likelihood of HLA-B51 positivity (61.9%) and a greater prevalence of skin and ocular symptoms, while female patients showed a higher incidence of erythema nodosum (42.2%) and genital ulcers (91.0%). Notably, a positive correlation was observed between skin lesions and genital ulcers, whereas ocular symptoms demonstrated a negative correlation with both skin and genital manifestations. This study underscores the significant impact of HLA-B51 positivity on the clinical presentation of BD. Insights gained from this research can enhance our understanding of genetic influences on symptom expression, ultimately leading to diagnostic and therapeutic approaches for patients with the disease.

关键词： HLA‐DPB1*19:01:02   next‐generation sequencing   novel allele  

摘要： HLA-DPB1*19:01:02 differs from HLA-DPB1*19:01:01 by a single nucleotide substitution at position 735 C>T.

摘要： Regulations, accreditation standards, and professional guidance require laboratories to use reference materials for assay development, validation, quality control, and proficiency testing of clinical genetic tests. There are, however, few publicly available reference materials for most genetic tests. To address this issue, the CDC's Genetic Testing Reference Material Program (GeT-RM), the Coriell Institute for Medical Research, and the genetic testing community have conducted 19 studies, including nine for pharmacogenetic (PGx) and human leukocyte antigen (HLA) testing, to generate characterized, renewable, and publicly available DNA samples for use as reference materials. Because new PGx alleles are frequently identified, and allele designations change over time, many samples were reanalyzed for the same gene(s) in subsequent GeT-RM studies. These studies used more comprehensive and sensitive methods and panels that examined additional single-nucleotide variants and/or star alleles to expand and update the consensus genotypes. Up-to-date information is available in two newly established resources: the GeT-RM Consolidated PGx and HLA Table and the GeT-RM PGx Search Tool. These resources contain all available PGx and HLA genotypes for 363 publicly available samples characterized during nine GeT-RM PGx or HLA studies for 34 genes/loci in a consolidated and searchable format. (J Mol Diagn 2025, 27: 457-464;https://***/10.1016/***.2025.02.008)

关键词： Bifidobacterium animalis subsp. lactis A6   immunoglobulin E   interleukin-13   perennial allergic rhinitis  

摘要： ObjectivesThe evidence regarding the efficacy of probiotics in improving allergic rhinitis (AR) remains inconsistent. This study aimed to evaluate the potential effects of Bifidobacterium animalis subsp. lactis A6 (A6) on perennial *** randomized, double-blind, placebo-controlled trial was conducted involving 70 adults with perennial AR receiving either probiotic (A6, 5 x 1010 CFU/sachet per day) or placebo intervention for 8 weeks. Nasal symptoms and quality of life (QoL) were recorded using total nasal symptom scores (TNSS) and the rhinitis quality of life questionnaire (RQLQ). Blood eosinophil count, total immunoglobulin E (IgE), allergen-specific IgE, and immunological parameters were also *** 8 weeks of intervention, the probiotic group showed a statistically significant greater reduction in TNSS total score compared with the placebo group [-3.11 (3.53) vs. -1.29 (3.34), p = 0.029, Cohen's d = 0.68]. Similar results were noted for serum total IgE and interleukin-13 (IL-13). Comparable findings were seen for RQLQ score only at week 4 but not at week *** conclusion, A6 could statistically significantly alleviate rhinitis symptoms and improve QoL in adults with perennial AR. The effect size, as measured by Cohen's d, suggests that A6 may provide clinically meaningful benefits for AR patients to a certain *** Trial *** Identifier no. ChiCTR2200064158.

关键词： HLA-A*24:642   NGS   novel allele  

摘要： HLA-A*24:642 differs from HLA-A*24:02:01:01 by a single nucleotide substitution at position 76 T>C in exon 2.

关键词： Nanobody   VHH   bi-specific   TNF   albumin  

摘要： This review summarizes the recent advancement of fragmented immunoglobulin molecules targeting on Tumot Necrosis Factor (TNF) alpha and highlighted the nanobody, which is the first approved product for the patients with rheumatoid arthritis (RA), ozoralizumab (OZR). Background for the clinical development, pharmakokinetics, and clinical trial data for OZR were shown. It has been approved in Japan in 2022 and marked as the fixth products of TNF inhibitors for RA in Japan. The similarities and differences among these products are discussed in this review.