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关键词： HLA-DQA1*03:80 novel allele   Illumina   next-generation sequencing  

摘要： The HLA-DQA1*03:80 allele contains a single nucleotide substitution in codon 134 (GGT to CGT).

关键词： 3 mismatches in exon 3   HLA-B*08:339   NGS  

摘要： HLA-B*08:339 differs from HLA-B*08:25 by 3 mismatches in exon 3, which result in 3 non-synonymous mutations.

关键词： antiviral immunity   EBV   hCMV   HLA   KIR   NK cells   NKG2  

摘要： Natural killer (NK) cells are vital in the antiviral response regulated by inhibitory and activating receptors, including NKG2 and KIR families, which bind HLA-I. While the adaptive features of NK cells in response to human cytomegalovirus (hCMV) have been well described, their behavior during Epstein-Barr virus (EBV) infection and the influence of KIR-HLA combinations in healthy carriers of these viruses remains unclear. We performed high-resolution HLA genotyping, phenotypic profiling of NK cell subsets, and serological testing for hCMV and EBV-specific IgG in 85 healthy adult donors. hCMV-seropositive individuals exhibited significant expansions of NKG2C+ and HLA-DR+ NK cell subsets, with the proportion of NKG2C+ cells strongly correlating with hCMV-IgG titers. In contrast, EBV infection was associated with increased frequencies of terminally differentiated CD56dim, NKG2A-, CD57+ NK cells and elevated expression of inhibitory KIRs, but not NKG2C or HLA-DR. EBV-IgG titers correlated with CD57 and KIR2DS4 levels. Among KIR2DS4-expressing donors, carriage of at least one HLA-C2 allele was associated with elevated EBV-IgGs. The precise analysis of KIR2DL2/DL3, KIR2DS4, and KIR2DL1 revealed dependencies on EBV-IgG titers, with no associations with hCMV. These findings highlight the differential impacts of hCMV and EBV on NK cells and underscore the relevance of HLA-KIR landscapes in shaping antiviral immunity.

关键词： HLA-DPA1*02:01:01:37 novel allele   Illumina   next-generation sequencing  

摘要： The HLA-DPA1*02:01:01:37 allele differs from HLA-DPA1*02:01:01:19 by a single nucleotide substitution in intron 1.

关键词： Brazilian population   HLA-DPA1   new allele   NGS   REDOME  

摘要： Identification of the novel HLA-DPA1*02:133N allele in Brazilian individual.

关键词： HLA-B*15:639   next-generation sequencing   novel allele  

摘要： HLA-B*15:639 differs from HLA-B*15:01:01:01 by one single nucleotide substitution at position 71 C>T in exon 1.

关键词： Rheumatoid arthritis   Interleukin   IL-32   IL-37   Genetic variants  

摘要： BackgroundInterleukin (IL)-32 and IL-37 are implicated in the pathophysiology of rheumatoid arthritis (RA). The aim of this study is to investigate serum levels and the genotypes of the IL-32 and IL-37 variants (IL-32 (rs28372698) and IL-37 (rs3811047)) in RA patients compared to controls and to evaluate the relation between these variables and RA disease ***-seven RA patients who fulfilled the 2010 ACR diagnostic criteria of rheumatoid arthritis and 44 controls were included in the study. Measurement of serum IL-32 and IL-37 levels was performed using human IL-32 and human IL-37 enzyme-linked immunosorbent assay (ELISA)s. Genotyping of the IL-32 and IL-37 variants (IL-32 (rs28372698) and IL-37 (rs3811047)) was done by real-time polymerase chain *** elevations in serum levels of IL-32 and IL-37 in RA patients were found compared to controls, but no significant difference in genetic variants. Serum levels of IL-37 were statistically significantly lower in RA patients treated with corticosteroids. A statistically significant association was found between the TT genotype of IL-32 and higher disease activity and extra-articular manifestations. Additionally, a statistically significant association was found between the AA genotype of IL-37 in RA patients and joint *** patients have higher serum levels of IL-32 and IL-37 compared to healthy controls, making them potential diagnostic indicators. However, no correlation was found between these serum levels and the inflammatory markers, the RA disease activity, or the lipid profile in RA patients. The TT genotype of IL-32 and the AA genotype of IL-37 were associated significantly with high disease activity, extra-articular manifestations, and deformities. These findings emphasize the need for closer follow-up for RA patients carrying the genotypes to avoid unfavorable outcomes.

关键词： 流行性感冒   甲型流感病毒   乙型流感病毒   抗原   流行病学   儿童  

摘要： 目的 探讨四川某医院2019—2024年儿童甲型与乙型流行性感冒的流行病学特征,为流感防控提供依据。方法 选取2019年1月2024年12月在四川锦欣西囡妇女儿童医院儿科进行甲型与乙型流感病毒抗原检测的43 348例呼吸道感染患儿为研究对象,采用胶体金法检测抗原,分析流感的流行强度、季节规律及年龄性别差异。结果 在流行性感冒患儿中抗原总阳性率为24.19%,其中甲型流感病毒抗原(甲型)阳性率为21.64%,乙型流感病毒抗原(乙型)阳性率为2.56%。甲型和乙型阳性率在不同年份间差异均有统计学意义(P<0.05)。甲型在婴幼儿、学龄前儿童和学龄儿童的阳性率分别为16.13%、25.66%和24.55%,乙型分别为1.42%、2.64%和3.95%,甲型和乙型阳性率在不同年龄间差异均有统计学意义(P <0.05)。甲型在男女患儿中阳性率分别为22.22%、21.00%,差异有统计学意义(P<0.05),乙型分别为2.60%、2.51%,无统计学差异。甲型在春、夏、秋和冬季的阳性率分别为27.66%、11.94%、13.10%和21.98%,乙型分别为1.21%、0.09%、1.62%和5.53%,甲、乙阳性率在季节间差异均有统计学意义(P<0.05)。结论 甲型流感病毒抗原总体阳性率高于乙型,甲型与乙型流感的易感人群有差异,甲型流感的高发季节为冬季和春季,乙型流感的高发季节为冬季。