Clinical immunology最新文献

Carrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data 基于大规模外显子组测序数据估算中国人群腺苷脱氨酶 2 缺乏症的携带者频率和发病率。

IF 4.5 3区医学

Clinical immunology Pub Date : 2024-10-29 DOI: 10.1016/j.clim.2024.110394

引用次数: 0

Corrigendum to "Immunomodulatory effect of Lactococcus lactis JCM5805 on human plasmacytoid dendritic cells" [Clinical Immunology 149/3PB (2013) 509-518]. 乳酸乳球菌 JCM5805 对人类浆细胞树突状细胞的免疫调节作用》[《临床免疫学》149/3PB (2013) 509-518] 勘误。

IF 4.5 3区医学

Clinical immunology Pub Date : 2024-10-25 DOI: 10.1016/j.clim.2024.110382

Tetsu Sugimura, Kenta Jounai, Konomi Ohshio, Takaaki Tanaka, Masahiro Suwa, Daisuke Fujiwara

引用次数: 0

Aberrant overexpression of the autoantigen protein vimentin promotes Th17 cell differentiation and autoimmune arthritis via activation of STAT3 signaling 自身抗原蛋白波形蛋白的过量表达会通过激活 STAT3 信号促进 Th17 细胞分化和自身免疫性关节炎。

IF 4.5 3区医学

Clinical immunology Pub Date : 2024-10-23 DOI: 10.1016/j.clim.2024.110383

{"title":"Aberrant overexpression of the autoantigen protein vimentin promotes Th17 cell differentiation and autoimmune arthritis via activation of STAT3 signaling","authors":"","doi":"10.1016/j.clim.2024.110383","DOIUrl":"10.1016/j.clim.2024.110383","url":null,"abstract":"<div><div>Vimentin contributes to the positioning and function of organelles, cell migration, adhesion, and division. However, secreted vimentin accumulates on the cell surface (Mor-Vaknin et al., 2003; Ramos et al., 2020 [<span><span>1</span></span>,<span><span>2</span></span>]) where it acts as a coreceptor for viral infection and as an autoantigen in inflammatory and autoimmune diseases. The roles of vimentin in Th17 cells were examined in mice with knockdown of vimentin. We also examined whether STAT3 is required for vimentin expression.</div><div>Vimentin expression was significantly increased in Th17 cells through STAT3 activation, and vimentin<sup>+</sup> IL-17<sup>+</sup> T cells were markedly increased in the joint and spleen tissues of CIA mice. The arthritis score and expression levels of proinflammatory cytokines were significantly decreased in CIA mice treated with vimentin shRNA vector.</div><div>In this study, we demonstrated that vimentin is significantly expressed in Th17 cells through STAT3 activation. Our results provide new insights into the role of vimentin in Th17 cells and the complex pathogenesis of RA.</div></div>","PeriodicalId":10392,"journal":{"name":"Clinical immunology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142496320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome 两个患有高IgE综合征的家族因深部内含子变异导致DOCK8缺乏症。

IF 4.5 3区医学

Clinical immunology Pub Date : 2024-10-20 DOI: 10.1016/j.clim.2024.110384

{"title":"DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome","authors":"","doi":"10.1016/j.clim.2024.110384","DOIUrl":"10.1016/j.clim.2024.110384","url":null,"abstract":"<div><div>Dedicator of cytokinesis 8 (DOCK8) deficiency underlies the majority of cases of patients with autosomal recessive form of the hyper-immunoglobulin E syndrome (HIES). Most <em>DOCK8</em> mutations involve deletions and splice junction mutations that abrogate protein expression. However, a few patients whose presentation is reminiscent of DOCK8 deficiency have no identifiable mutations. Using Whole Exome Sequencing (WES), we identified a deep intronic homozygous <em>DOCK8</em> variant located in intron 36 (c.4626 + 76 A > G) in two unrelated patients with features of HIES that resulted in an in-frame 75 base pair intronic sequence insertion in <em>DOCK8</em> cDNA, resulting in a premature stop codon (p.S1542ins6Ter). This variant resulted in variable decrease in DOCK8 expression that was associated with impaired T cell receptor-triggered actin polymerization, decreased IL-6-induced STAT3 phosphorylation, reduced expression of the Th17 cell markers CCR6 and IL-17, and higher frequencies of GATA3<sup>+</sup> T cells indicative of Th2 skewing. Our approach extends the reach of WES in identifying disease-related intronic variants. It highlights the role of non-coding mutations in immunodeficiency disorders, including DOCK8 deficiency, and emphasizes the need to explore these mutations in unexplained inborn errors of immunity.</div></div>","PeriodicalId":10392,"journal":{"name":"Clinical immunology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142496322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Characterization of primary Sjögren's syndrome in the Taiwan Han population through a genome-wide association study and polygenic risk score analysis 通过全基因组关联研究和多基因风险评分分析，确定台湾汉族人群中原发性斯约格伦综合征的特征。

IF 4.5 3区医学

Clinical immunology Pub Date : 2024-10-20 DOI: 10.1016/j.clim.2024.110381

{"title":"Characterization of primary Sjögren's syndrome in the Taiwan Han population through a genome-wide association study and polygenic risk score analysis","authors":"","doi":"10.1016/j.clim.2024.110381","DOIUrl":"10.1016/j.clim.2024.110381","url":null,"abstract":"<div><h3>Background</h3><div>Sjögren's syndrome (SS) is an autoimmune disorder that primarily affects the exocrine glands, leading to dryness of mucous membranes and systemic manifestations. This study aimed to identify genetic markers associated with primary SS (pSS) in the Taiwan Han population through a hospital-based genome-wide association study (GWAS) and polygenic risk score (PRS) analysis, addressing the lack of genetic research.</div></div><div><h3>Results</h3><div>This study included 11,390 patients diagnosed with pSS and 113,900 controls. GWAS identified one known locus and eight novel loci. Known HLA alleles, including HLA-DRB1*15:01 and HLA-DQA1*03:01, were successfully replicated in a consistent effect direction. PRS analysis revealed that several autoimmune diseases share similar genetic backgrounds with pSS, including rheumatoid arthritis and systemic lupus erythematosus.</div></div><div><h3>Conclusion</h3><div>This study represents the largest cohort to date on the genetics of pSS in the Taiwan Han population. Our findings provide valuable insights into the pathogenesis of pSS and emphasize the comorbidities associated with it as an autoimmune disease.</div></div>","PeriodicalId":10392,"journal":{"name":"Clinical immunology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142496321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cladribine tablets in relapsing-remitting multiple sclerosis preferentially target B-cells 治疗复发缓解型多发性硬化症的克拉利宾片优先靶向 B 细胞。

IF 4.5 3区医学

Clinical immunology Pub Date : 2024-10-18 DOI: 10.1016/j.clim.2024.110380

{"title":"Cladribine tablets in relapsing-remitting multiple sclerosis preferentially target B-cells","authors":"","doi":"10.1016/j.clim.2024.110380","DOIUrl":"10.1016/j.clim.2024.110380","url":null,"abstract":"<div><div>Recent studies demonstrate the efficacy of B cell-targeting therapies in managing multiple sclerosis (MS) activity, emphasizing the critical role of B cells in MS pathogenesis. CladB study aimed to quantify the temporal changes in peripheral immune cells and their activity over 96 weeks of Cladribine tablets (CladT) treatment in relapsing-remitting MS (RRMS).</div><div>Ten participants (3 males, 7 females) had blood samples collected at multiple intervals (Day 0, 1, 5, then weekly for 8 weeks, biweekly for up to 24 weeks, and monthly for up to 96 weeks) for immune cell analysis, compared to a historical alemtuzumab-treated cohort. Paired cerebrospinal fluid (CSF) was also taken for various analyses, alongside clinical and brain imaging assessments.</div><div>CladT depleted memory B cells, while alemtuzumab rapidly depleted T and B cells. The кFLC index decreased from 164.5 ± 227.1 to 71.3 ± 84.7 at 48 weeks (<em>p</em> = 0.002) and to 64.4 ± 67.3 at 96 weeks (<em>p</em> = 0.01). The IgG index dropped from 1.1 ± 0.5 at baseline to 0.8 ± 0.4 at 48 weeks (<em>p</em> = 0.014) and to 0.8 ± 0.3 at 96 weeks (<em>p</em> = 0.02). CSF CXCL-13 decreased from 88.6 ± 68.4 pg/mL to 39.4 ± 35.2 pg/mL at 48 weeks (<em>p</em> = 0.037) and 19.1 ± 11.7 pg/mL at 96 weeks (<em>p</em> = 0.027). CSF NfL levels were reduced at 48 weeks (<em>p</em> = 0.01).</div><div>CladT primarily depletes memory B cells and antibody-secreting cell precursors in RRMS, leading to sustained effects on intrathecal antibody production and total IgG, and a reduction in CSF CXCL-13.</div></div>","PeriodicalId":10392,"journal":{"name":"Clinical immunology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142459551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Successful treatment with tofacitinib in a child diagnosed with ISG15 deficiency 用托法替尼成功治疗了一名被诊断为 ISG15 缺乏症的儿童。

IF 4.5 3区医学

Clinical immunology Pub Date : 2024-10-12 DOI: 10.1016/j.clim.2024.110377

引用次数: 0

Dysregulation of neutrophil extracellular traps (NETs)-related genes in the pathogenesis of diabetic kidney disease - Results from bioinformatics analysis and translational studies 中性粒细胞胞外捕获物（NET）相关基因在糖尿病肾病发病机制中的失调--生物信息学分析和转化研究的结果

IF 4.5 3区医学

Clinical immunology Pub Date : 2024-10-11 DOI: 10.1016/j.clim.2024.110379

引用次数: 0

Phenotypic, transcriptomic, and spatial characterization of CD45RB+ naïve mature B cells: Implications in Sjögren's disease CD45RB+幼稚成熟B细胞的表型、转录组和空间特征：对斯约格伦病的影响。

IF 4.5 3区医学

Clinical immunology Pub Date : 2024-10-10 DOI: 10.1016/j.clim.2024.110378