International Journal of Immunogenetics最新文献

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Long-Read Next-Generation Sequencing Technologies Can Address Some Limitations of Short-Read Technologies in HLA Typing. 长读新一代测序技术可以解决短读技术在HLA分型中的一些局限性。
IF 1.1 4区 医学
International Journal of Immunogenetics Pub Date : 2026-06-01 Epub Date: 2026-03-14 DOI: 10.1111/iji.70046
Julien Lion, Marianne Perriere, Judith Desoutter, Nicolas Guillaume
{"title":"Long-Read Next-Generation Sequencing Technologies Can Address Some Limitations of Short-Read Technologies in HLA Typing.","authors":"Julien Lion, Marianne Perriere, Judith Desoutter, Nicolas Guillaume","doi":"10.1111/iji.70046","DOIUrl":"10.1111/iji.70046","url":null,"abstract":"<p><strong>Introduction: </strong>Accurate HLA allele identification is essential to ensure graft-recipient compatibility. Advances in next-generation sequencing (NGS), such as those provided by Illumina and Oxford Nanopore Technologies, have improved resolution of HLA-typing.</p><p><strong>Methods and results: </strong>Here, a novel HLA-C*12 allele with a silent mutation (G to A) was identified in a bone marrow donor homozygous for HLA-C*12. The allele was initially linked to HLA-C*12:03:01 by short-read NGS, but further investigation by long-read sequencing revealed the mutation to be associated with HLA-C*12:02:02. Phasing limitations of short-read NGS made accurate allele assignment difficult, but precise differentiation became possible with longer reads. The origin of the mutation was subsequently confirmed by sequencing parental samples.</p><p><strong>Conclusion: </strong>This case highlights the ability of long-read sequencing to resolve cis-trans ambiguities and improve allele phasing, and to enhance accuracy for new HLA allele identification.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"298-301"},"PeriodicalIF":1.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147457008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
A Simplified, Scalable Solution for Simultaneous Genotyping of Human Leukocyte Antigen Classical Class I and Human Platelet Antigen Genes Utilising Oxford Nanopore Technologies Long-Read Sequencing. 一个简化的,可扩展的解决方案,人类白细胞抗原经典类I和人类血小板抗原基因同时基因分型利用牛津纳米孔技术长读测序。
IF 1.1 4区 医学
International Journal of Immunogenetics Pub Date : 2026-06-01 Epub Date: 2026-04-06 DOI: 10.1111/iji.70049
Vrushank Makwana, Rohan Raval, Clare Nevin, Ruifeng Zhang, William Martin Howell, Tom Browne
{"title":"A Simplified, Scalable Solution for Simultaneous Genotyping of Human Leukocyte Antigen Classical Class I and Human Platelet Antigen Genes Utilising Oxford Nanopore Technologies Long-Read Sequencing.","authors":"Vrushank Makwana, Rohan Raval, Clare Nevin, Ruifeng Zhang, William Martin Howell, Tom Browne","doi":"10.1111/iji.70049","DOIUrl":"10.1111/iji.70049","url":null,"abstract":"<p><p>Human leucocyte antigen (HLA) class I and human platelet antigens (HPAs) can elicit immune responses, leading to platelet transfusion refractoriness (PTRs). To support the clinical management of patients with PTR, transfusion of HLA class I and sometimes HPA-selected apheresis platelets is recommended. To facilitate this service, the HLA class I and HPA genotypes of platelet donors must be defined so that appropriate platelet units may be selected. Currently, National Health Service Blood and Transplant (NHSBT) utilises two separate assays for genotyping HLA class I and HPAs. In this study, a simple, single-well, multiplex PCR assay has been developed to genotype classical HLA class I genes (HLA-A, -B and -C) and 27/35 currently described HPAs, including all clinically relevant HPAs. Genomic DNA from 90 consented English apheresis platelet donors and 17 reference samples provided by the Australian Red Cross were amplified with the custom PCR protocol. Sequencing libraries were prepared using Oxford Nanopore Technologies (ONTs) native barcoding kit v14 (SQK-NBD114.96) and sequenced on MinION R10.4.1 flow cell. Base calling was performed live in MinKNOW v24.02.16, and sequence alignment, variant calling and genotype assignment of HPA were performed by a bespoke bioinformatics pipeline. Analysis of HLA class I genes was carried out using NGSengine v4.0.0. English apheresis platelet donors successfully genotyped (89/90) using the described assay showed 100% concordance with historic results for both HLA and clinically relevant HPAs. Further testing with reference samples from the Australian Red Cross samples showed 100% concordance with externally provided HPA results. This assay offers a simplified workflow for simultaneous HLA class I and HPA genotyping of apheresis platelet donors, permitting automation and significant expansion to include more HPA specificities. This assay provides accurate HLA class I genotyping and HPA genotyping in a single assay, requiring a minimal laboratory footprint and less maintenance than current in-use assays.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"275-283"},"PeriodicalIF":1.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147622964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Identification of HLA-DQA1 and HLA-DRB5 as Risk Factors for Multiple Sclerosis: An Epigenome-Wide Methylation Haplotype Association Analysis. 鉴定HLA-DQA1和HLA-DRB5是多发性硬化症的危险因素:一项全表观基因组甲基化单倍型关联分析
IF 1.1 4区 医学
International Journal of Immunogenetics Pub Date : 2026-06-01 Epub Date: 2026-02-23 DOI: 10.1111/iji.70043
Zhenwei Shang, Jiacheng Wang, Jing Xu, Mingming Zhang, Hongchao Lv, Yongshuai Jiang, Ruijie Zhang, Wenhua Lv
{"title":"Identification of HLA-DQA1 and HLA-DRB5 as Risk Factors for Multiple Sclerosis: An Epigenome-Wide Methylation Haplotype Association Analysis.","authors":"Zhenwei Shang, Jiacheng Wang, Jing Xu, Mingming Zhang, Hongchao Lv, Yongshuai Jiang, Ruijie Zhang, Wenhua Lv","doi":"10.1111/iji.70043","DOIUrl":"10.1111/iji.70043","url":null,"abstract":"<p><p>Multiple sclerosis (MS) is a chronic central nervous system inflammatory disease of autoimmune aetiology. The disease is mostly considered due to a complex interaction between different genetic and environmental factors. DNA methylation is an epigenetic mechanism that can influence gene expression and has the potential to mediate the effects of environmental factors on MS. This study aimed to identify MS risk methylation haplotypes (meplotypes) and their associated genes by integrating epigenome-wide meplotype association analysis with gene optimisation. We conducted the first epigenome-wide meplotype association study for MS using methylation data from peripheral blood lymphocytes (PBLs) of 140 MS patients and 139 normal controls. The analytical procedure comprised the following steps: (1) conversion of DNA methylation level into menotypes; (2) identification of methylation disequilibrium (MD) block and performance of meplotype association analysis; (3) screening of risk meplotypes and their mapping to genes; (4) conducting functional analysis of the candidate genes; and (5) final identification of MS risk genes through gene optimisation. Our analysis identified 286 meplotypes across 191 MD blocks that were significantly associated with MS (p value < 0.05). Of these, 120 meplotypes were found to confer increased risk for MS susceptibility and were mapped to 134 candidate genes. Gene optimisation identified four MS risk meplotypes on three key genes: HLA-DQA1, HLA-DRB5 and HLA-DRB1. These results not only confirm the pivotal role of HLA-DRB1 in MS but also report, for the first time, an association between MS and DNA methylation patterns in HLA-DQA1 and HLA-DRB5. This study demonstrates that epigenome-wide methylation haplotype analysis offers a powerful and novel perspective for identifying MS-related genes.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"248-258"},"PeriodicalIF":1.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147270962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Frequency of HLA-DRB1*15:03-DRB5 Haplotypes in Saudi Population: A Predominance of DRB5*01:01 and Rare Absence of DRB5. 沙特人群HLA-DRB1*15:03-DRB5单倍型频率:DRB5*01:01显性,DRB5缺失罕见
IF 1.1 4区 医学
International Journal of Immunogenetics Pub Date : 2026-06-01 Epub Date: 2026-01-30 DOI: 10.1111/iji.70039
Sheerin A Alandejani, Abdullah Alrasheed, Asma Albaihed, Jaylan Al Mohaimeed, Mohammed Al Qazlan, Hanan Anazi, Dunia Jawdat, Ali H Hajeer
{"title":"Frequency of HLA-DRB1*15:03-DRB5 Haplotypes in Saudi Population: A Predominance of DRB5*01:01 and Rare Absence of DRB5.","authors":"Sheerin A Alandejani, Abdullah Alrasheed, Asma Albaihed, Jaylan Al Mohaimeed, Mohammed Al Qazlan, Hanan Anazi, Dunia Jawdat, Ali H Hajeer","doi":"10.1111/iji.70039","DOIUrl":"10.1111/iji.70039","url":null,"abstract":"<p><p>The strong linkage between HLA-DRB1*15:03 and DRB5*01:01 is well established globally, yet its expression patterns in Saudi donors remain underexplored. In this study, we analysed high-resolution HLA genotypes derived from next-generation sequencing of 28,927 stem cell donors of Saudi ethnicity registered in the Saudi Stem Cell Donor Registry. We identified carriers of DRB1*15:03 and recorded their DRB5 status. Descriptive statistics were used to summarise allele frequencies and haplotype configurations. We found DRB1*15:03 in 931 donors (3.22%). Of these, 926 individuals (99.46%) co-expressed DRB5*01:01, four (0.43%) carried DRB5*02:02 and one (0.11%) had no detectable DRB5 alleles. This study indicates a nearly universal linkage disequilibrium between DRB1*15:03 and DRB5*01:01 in the Saudi population, with the absence of DRB5 being infrequent. These findings confirm the infrequency of DRB5 absence and the importance of complete DRB3/4/5 typing to optimise donor matching and minimise immunogenic risk.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"294-297"},"PeriodicalIF":1.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146093126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
To Study the Association of HLA-DQ2/8 With Celiac Disease and Identifying Proxy-SNPs for Predicting Their Presence in North Indian Population. 研究HLA-DQ2/8与乳糜泻的关系,并确定预测其在北印度人群中存在的代理snp。
IF 1.1 4区 医学
International Journal of Immunogenetics Pub Date : 2026-06-01 Epub Date: 2026-03-08 DOI: 10.1111/iji.70045
Priyanka Tiwari, B K Thelma, Ajit Sood, Vandana Midha, Sabyasachi Senapati
{"title":"To Study the Association of HLA-DQ2/8 With Celiac Disease and Identifying Proxy-SNPs for Predicting Their Presence in North Indian Population.","authors":"Priyanka Tiwari, B K Thelma, Ajit Sood, Vandana Midha, Sabyasachi Senapati","doi":"10.1111/iji.70045","DOIUrl":"10.1111/iji.70045","url":null,"abstract":"<p><p>Celiac disease (CD) risk conferred by HLA-DQ2 and DQ8 varies significantly across populations. In north India, where CD is as prevalent as in European populations, reports on the association of HLA-DQ2 and DQ8 with CD are limited. In a north Indian CD case-control cohort (459 CD and 450 controls), known CD-associated risk HLA-DQ alleles, HLA-DQA1*05:01/02:01/03:01 and HLA-DQB1*02/*03:02, were genotyped using SSP-PCR to uncover their frequency and association with CD. Published dense Illumina_Immunochip genotyping data of the study cohort were used to identify proxy-SNPs for HLA-DQ genotypes and their alleles. We also investigated the correlation between common CD phenotypes and DQ2/8 genotypes. Ninety-nine percent of the CD patients were found to carry HLA-DQ2.5, DQ2.2 or 8. HLA-DQA1*05:01 (OR = 5.86 [4.39-7.81], p < 0.0001) and HLA-DQB1*02 (OR = 16.61 [11.37-24.25], p < 0.0001) were identified as the strongest susceptibility alleles. HLA-DQ2.5 was present in 92% of patients and conferred the highest CD risk (OR = 29.01 [19.56-43.00], p < 0.00001), while DQ8 appeared protective (OR = 0.42 [0.25-0.70], p < 0.0001). HLA-DQ2.5/8 and HLA-DQ2.5/2.2 were found significantly associated with serum anti-tTG-IgA and skin conditions, respectively, among CD patients. rs1129740, rs9273012 and rs7744001 were identified as proxy-SNPs to efficiently predict the presence/absence of DQ2.5, DQ2.2, DQ8 and its alleles. This was the first well-powered study to evaluate the susceptibility of HLA-DQ in CD among the north Indian population. HLA-DQ2.5 showed a strong association with CD, conferring a higher disease risk, while DQ8 appeared protective, and the contribution of DQ2.2 was inconclusive. Three proxy-SNPs, rs1129740, rs9273012 and rs7744001, could be utilized to predict HLA-DQ genotypes as a cost-effective alternative for CD risk assessment.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"259-267"},"PeriodicalIF":1.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147377339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Quantitative Assessment of Analytical Ambiguity in Reverse Sequence-Specific Oligonucleotide (rSSO)-Based HLA Typing Platforms. 基于逆序列特异性寡核苷酸(rSSO)的HLA分型平台分析歧义性的定量评估。
IF 1.1 4区 医学
International Journal of Immunogenetics Pub Date : 2026-06-01 Epub Date: 2026-04-15 DOI: 10.1111/iji.70051
Fenghua Yuan, Ning Wang, Chao Yuan, Yan Zhao, Xiaoyan Wang
{"title":"Quantitative Assessment of Analytical Ambiguity in Reverse Sequence-Specific Oligonucleotide (rSSO)-Based HLA Typing Platforms.","authors":"Fenghua Yuan, Ning Wang, Chao Yuan, Yan Zhao, Xiaoyan Wang","doi":"10.1111/iji.70051","DOIUrl":"10.1111/iji.70051","url":null,"abstract":"<p><p>Analytical ambiguity is an inherent and expected feature of reverse sequence-specific oligonucleotide (rSSO)-based HLA genotyping and reflects the size of the candidate allele space compatible with a given probe pattern at the analytical interpretation level. However, ambiguity is often treated as a binary attribute, which may obscure differences in its magnitude across platforms. We conducted a between-subject comparison of two commercial rSSO HLA typing platforms, One Lambda (386 patients; 6176 allele-level observations) and Immucor GTI (1003 patients; 16,048 allele-level observations). Analytical ambiguity was quantified as candidate allele count (CandidateCount) across eight HLA loci (A, B, C, DRB1, DQB1, DQA1, DPB1 and DPA1). Generalized estimating equations with a negative binomial family were used to account for within-patient clustering, with rate ratios estimated using Immucor GTI as the reference and p-values adjusted for multiple testing. Four loci showed significantly larger analytical candidate allele spaces on One Lambda than on Immucor GTI after Benjamini-Hochberg correction, with the largest effect observed at DPA1, where mean CandidateCount values were more than doubled (18.3 vs. 8.3). Moderate but significant differences were also observed at HLA-A, DQB1 and DPB1, whereas no significant platform differences were detected at HLA-B, HLA-C, DRB1 or DQA1. These findings demonstrate that analytical ambiguity differs between commercial rSSO HLA typing platforms in a locus-specific manner. Quantitative characterization of ambiguity at the raw interpretation level may help set expectations regarding locus-specific resolution burden and support workflow planning in laboratories using rSSO as a first-line typing approach.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"284-293"},"PeriodicalIF":1.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Vitamin D Receptor Gene Polymorphism in Type 1 Diabetes in South Indian Population. 南印度人群1型糖尿病维生素D受体基因多态性
IF 1.1 4区 医学
International Journal of Immunogenetics Pub Date : 2026-06-01 Epub Date: 2026-03-02 DOI: 10.1111/iji.70044
Karthick Rajendran, Pushpa Saravanan, Vasuki Ranganathan, Jaya Packiam Thayanithi, Govarthanan Shanmugam, Dharmarajan Panneerselvam, Chitra Ayyappan, Arunkumar Ramachandran, Priyadarshini Panneerselvam, Jayakrishna Pamarthi, Muthukumaran Rajaram
{"title":"Vitamin D Receptor Gene Polymorphism in Type 1 Diabetes in South Indian Population.","authors":"Karthick Rajendran, Pushpa Saravanan, Vasuki Ranganathan, Jaya Packiam Thayanithi, Govarthanan Shanmugam, Dharmarajan Panneerselvam, Chitra Ayyappan, Arunkumar Ramachandran, Priyadarshini Panneerselvam, Jayakrishna Pamarthi, Muthukumaran Rajaram","doi":"10.1111/iji.70044","DOIUrl":"10.1111/iji.70044","url":null,"abstract":"<p><p>Pancreatic beta cell destruction in Type 1 diabetes (T1D) is a possible consequence of an intricate autoimmune crosstalk between environmental factors and genetic elements. The vitamin D receptor (VDR) gene apart from regulating insulin secretion from the pancreas, also functions as a mediator of immune response through vitamin D. These interplay mechanisms vary across studies and population groups. Therefore, the aim of this study is to explore the association between VDR gene polymorphisms and T1D among South Indian subjects. This was a single-centre, prospective, case-control study that included 150 T1D and 155 non-diabetic control participants. All the participants' blood samples were analysed for vitamin D levels. TaqMan real-time assays were used to analyse the FokI (rs2228570), BsmI (rs1544410) and TaqI (rs731236) polymorphisms. The levels of vitamin D were significantly lower in the T1D group than in the control group. A statistically significant variation in the genotype of VDR polymorphism BsmI was noted between T1D and controls, with the homozygous variant (AA) of BsmI rs 1544410 present more frequently in the T1D group (44%) compared to the control group (23.2%) (odds ratio [OR] = 2.265, 95% confidence interval [CI]: 1.380-3.719, p < 0.001). The frequency of the A allele of the BsmI polymorphism was also significantly higher in the T1D (p < 0.002). Analysis of haplotype showed that combinations T-A-T and C-A-T were statistically linked with susceptibility to T1D (p < 0.008 and p < 0.005, respectively). High linkage disequilibrium (LD) was found between TaqI and BsmI (D' = 0.71). Statistically significant differences were not encountered in genotype and allelic frequencies of VDR polymorphism of either FokI or TaqI. This study findings revealed that BsmI polymorphism in the VDR gene and particular haplotypes are possibly associated with susceptibility to T1D in the South Indian population.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"268-274"},"PeriodicalIF":1.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147325718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
The Role of miR-148a-3p in Atopic Dermatitis and Its Correlation With Inflammation. miR-148a-3p在特应性皮炎中的作用及其与炎症的相关性
IF 1.1 4区 医学
International Journal of Immunogenetics Pub Date : 2026-06-01 Epub Date: 2026-03-08 DOI: 10.1111/iji.70041
Lei Deng, Rui Zhang, Guozhang Ma, Linlin Zhu
{"title":"The Role of miR-148a-3p in Atopic Dermatitis and Its Correlation With Inflammation.","authors":"Lei Deng, Rui Zhang, Guozhang Ma, Linlin Zhu","doi":"10.1111/iji.70041","DOIUrl":"10.1111/iji.70041","url":null,"abstract":"<p><p>The study aims to investigate the expression characteristics and functions of miR-148a-3p in atopic dermatitis (AD), as well as its association with inflammation. A total of 150 skin tissue samples from patients with AD and 146 samples from healthy individuals were collected in this study. The expression level of miR-148a-3p was detected by RT-qPCR. An in vitro inflammatory model was established by treating HaCaT cells with TNF-α/IFN-γ. Cell proliferation and apoptosis were detected by the CCK-8 assay and flow cytometry, respectively. The levels of inflammatory factors were detected by ELISA and RT-qPCR. The targeting relationship between miR-148a-3p and PTEN was verified by dual-luciferase reporter assay. The expression of miR-148a-3p was significantly upregulated in the skin tissues of patients with AD and in TNF-α/IFN-γ-treated HaCaT cells. Inhibition of miR-148a-3p could promote cell proliferation, inhibit apoptosis, and significantly reduce the expression of inflammatory factors. PTEN was identified as a direct target of miR-148a-3p. Knockdown of PTEN reversed the protective effect of miR-148a-3p inhibitor on HaCaT cells. Under the context of AD, miR-148a-3p promotes the maintenance of inflammation and cell apoptosis in epidermal keratinocytes by inhibiting PTEN, which may exacerbate the disruption of the skin barrier.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"240-247"},"PeriodicalIF":1.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147377353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Don't Cut the Cord: Why Umbilical Cord Blood Still Deserves a Place in Transplantation. 不要剪断脐带:为什么脐带血在移植中仍然有一席之地。
IF 1.1 4区 医学
International Journal of Immunogenetics Pub Date : 2026-06-01 Epub Date: 2026-04-15 DOI: 10.1111/iji.70050
Jenna Nunn, Kay Poulton, Robert Wynn
{"title":"Don't Cut the Cord: Why Umbilical Cord Blood Still Deserves a Place in Transplantation.","authors":"Jenna Nunn, Kay Poulton, Robert Wynn","doi":"10.1111/iji.70050","DOIUrl":"10.1111/iji.70050","url":null,"abstract":"<p><p>The use of umbilical cord blood (UCB) as a stem cell source in haematopoietic stem cell transplant (HSCT) has greatly declined in recent years. It has largely been replaced by mismatched unrelated and family donors, facilitated by advances in transplant technologies, including post-transplant cyclophosphamide to prevent graft-versus-host disease (GVHD). UCB remains a distinctive source of haematopoietic stem cells (HSCs) with unique immunologic and practical advantages, including for those with malignant and non-malignant diseases. Compared to other cell sources, UCB transplantation (UCBT) offers comparable survival with reduced chronic GVHD (cGVHD) and with a potent graft-versus-leukaemia (GVL) effect. These outcomes likely reflect the biology of cord-derived lymphocytes-particularly naïve, adaptable CD8<sup>+</sup> T-cells capable of rapid differentiation and tumour-directed cytotoxicity without sustained alloreactivity. UCB permits greater human leukocyte antigen (HLA) mismatch tolerance, especially when transplant is performed T-cell replete and can be accessed immediately, reducing time to transplant for high-risk leukaemia. In addition, recent advances in ex vivo expansion technologies have overcome historical limitations of low cell dose and delayed engraftment, expanding UCB's applicability to older paediatric and adult recipients. This review discusses the evidence of using UCB as a preferred stem cell source in patients with relapsed/refractory haematological malignancies and how we may interrogate the properties of UCB to improve outcomes in these high-risk cohorts.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"229-239"},"PeriodicalIF":1.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13136670/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Introduction to Pharmacogenomics: Role of the Histocompatibility and Immunogenetics Laboratory in Personalised Medicine-Current Status and Future Prospects. 药物基因组学导论:组织相容性和免疫遗传学实验室在个体化医学中的作用——现状和未来展望。
IF 1.1 4区 医学
International Journal of Immunogenetics Pub Date : 2026-04-23 DOI: 10.1111/iji.70052
William Martin Howell
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