Immunogenetics最新文献_第4页

B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study 被诊断为先天性免疫错误患者的 B 细胞缺失：一项基于登记的研究

IF 3.2 4区医学

Immunogenetics Pub Date : 2024-04-29 DOI: 10.1007/s00251-024-01342-y

Razieh Khoshnevisan, Shakiba Hassanzadeh, Christoph Klein, Meino Rohlfs, Bodo Grimbacher, Newsha Molavi, Aryana Zamanifar, Ali Khoshnevisan, Mahbube Jafari, Bahram Bagherpour, Mahdiyeh Behnam, Somayeh Najafi, Roya Sherkat

{"title":"B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study","authors":"Razieh Khoshnevisan, Shakiba Hassanzadeh, Christoph Klein, Meino Rohlfs, Bodo Grimbacher, Newsha Molavi, Aryana Zamanifar, Ali Khoshnevisan, Mahbube Jafari, Bahram Bagherpour, Mahdiyeh Behnam, Somayeh Najafi, Roya Sherkat","doi":"10.1007/s00251-024-01342-y","DOIUrl":"https://doi.org/10.1007/s00251-024-01342-y","url":null,"abstract":"Hypogammaglobulinemia without B-cells is a subgroup of inborn errors of immunity (IEI) which is characterized by a significant decline in all serum immunoglobulin isotypes, coupled with a pronounced reduction or absence of B-cells. Approximately 80 to 90% of individuals exhibit genetic variations in Bruton’s agammaglobulinemia tyrosine kinase (BTK), whereas a minority of cases, around 5–10%, are autosomal recessive agammaglobulinemia (ARA). Very few cases are grouped into distinct subcategories. We evaluated phenotypically and genetically 27 patients from 13 distinct families with hypogammaglobinemia and no B-cells. Genetic analysis was performed via whole-exome and Sanger sequencing. The most prevalent genetic cause was mutations in BTK. Three novel mutations in the BTK gene include c.115 T > C (p. Tyr39His), c.685-686insTTAC (p.Asn229llefs5), and c.163delT (p.Ser55GlnfsTer2). Our three ARA patients include a novel homozygous stop-gain mutation in the immunoglobulin heavy constant Mu chain (IGHM) gene, a novel frameshift mutation of the B-cell antigen receptor complex-associated protein (CD79A) gene, a novel bi-allelic stop-gain mutation in the transcription factor 3 (TCF3) gene. Three patients with agammaglobulinemia have an autosomal dominant inheritance pattern, which includes a missense variant in PIK3CD, a novel missense variant in PIK3R1 and a homozygous silent mutation in the phosphoinositide-3-kinase regulatory subunit (RASGRP1) gene. This study broadens the genetic spectrum of hypogammaglobulinemia without B-cells and presented a few novel variants within the Iranian community, which may also have implications in other Middle Eastern populations. Notably, disease control was better in the second affected family member in families with multiple cases.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"73 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140809120","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

Determination of HLA class II risk alleles and prediction of self/non-self-epitopes contributing Hashimoto’s thyroiditis in a group of Iranian patients 确定一组伊朗患者的 HLA II 类风险等位基因并预测自身/非自身表位对桥本氏甲状腺炎的影响

IF 3.2 4区医学

Immunogenetics Pub Date : 2024-04-12 DOI: 10.1007/s00251-024-01339-7

Ata Shirizadeh, Shiva Borzouei, Zahra Razavi, Amir Taherkhani, Javad Faradmal, Ghasem Solgi

{"title":"Determination of HLA class II risk alleles and prediction of self/non-self-epitopes contributing Hashimoto’s thyroiditis in a group of Iranian patients","authors":"Ata Shirizadeh, Shiva Borzouei, Zahra Razavi, Amir Taherkhani, Javad Faradmal, Ghasem Solgi","doi":"10.1007/s00251-024-01339-7","DOIUrl":"https://doi.org/10.1007/s00251-024-01339-7","url":null,"abstract":"One of the probable hypotheses for the onset of autoimmunity is molecular mimicry. This study aimed to determine the HLA-II risk alleles for developing Hashimoto’s thyroiditis (HT) in order to analyze the molecular homology between candidate pathogen-derived epitopes and potentially self-antigens (thyroid peroxidase, TPO) based on the presence of HLA risk alleles. HLA-DRB1/-DQB1 genotyping was performed in 100 HT patients and 330 ethnically matched healthy controls to determine the predisposing/protective alleles for HT disease. Then, in silico analysis was conducted to examine the sequence homology between epitopes derived from autoantigens and four potentially relevant pathogens and their binding capacities to HLA risk alleles based on peptide docking analysis. We identified HLA-DRB1*03:01, *04:02, *04:05, and *11:04 as predisposing alleles and DRB1*13:01 as a potentially predictive allele for HT disease. Also, DRB1*11:04 ~ DQB1*03:01 (Pc = 0.002; OR, 3.97) and DRB1*03:01 ~ DQB1*02:01 (Pc = 0.004; OR, 2.24) haplotypes conferred a predisposing role for HT. Based on logistic regression analysis, carrying risk alleles increased the risk of HT development 4.5 times in our population (P = 7.09E-10). Also, ROC curve analysis revealed a high predictive power of those risk alleles for discrimination of the susceptible from healthy individuals (AUC, 0.70; P = 6.6E-10). Analysis of peptide sequence homology between epitopes of TPO and epitopes derived from four candidate microorganisms revealed a homology between envelop glycoprotein D of herpes virus and sequence 151–199 of TPO with remarkable binding capacity to HLA-DRB1*03:01 allele. Our findings indicate the increased risk of developing HT in those individuals carrying HLA risk alleles which can also be related to herpes virus infection.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"103 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140598745","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

Immunoglobulin genes and severity of COVID-19 免疫球蛋白基因与 COVID-19 的严重程度

IF 3.2 4区医学

Immunogenetics Pub Date : 2024-04-11 DOI: 10.1007/s00251-024-01341-z

Daniel Vázquez-Coto, Christine Kimball, Guillermo M. Albaiceta, Laura Amado-Rodríguez, Marta García-Clemente, Juan Gómez, Eliecer Coto, Janardan P. Pandey

{"title":"Immunoglobulin genes and severity of COVID-19","authors":"Daniel Vázquez-Coto, Christine Kimball, Guillermo M. Albaiceta, Laura Amado-Rodríguez, Marta García-Clemente, Juan Gómez, Eliecer Coto, Janardan P. Pandey","doi":"10.1007/s00251-024-01341-z","DOIUrl":"https://doi.org/10.1007/s00251-024-01341-z","url":null,"abstract":"There is tremendous interindividual and interracial variability in the outcome of SARS-CoV-2 infection, suggesting the involvement of host genetic factors. Here, we investigated whether IgG allotypes GM (γ marker) 3 and GM 17, genetic markers of IgG1, contributed to the severity of COVID-19. IgG1 plays a pivotal role in response against SARS-CoV-2 infection. We also investigated whether these GM alleles synergistically/epistatically with IGHG3 and FCGR2A alleles—which have been previously implicated in COVID-19—modulated the extent of COVID-19 severity. The study population consisted of 316 COVID-19 patients who needed treatment in the intensive care unit of Hospital Universitario Central de Asturias. All individuals were genotyped for GM 3/17, IGHG3 hinge length, and FCGR2A rs1801274 A/G polymorphisms. Among the 316 critical patients, there were 86 deaths. The risk of death among critical patients was significantly higher in subjects with GM 17 (IgG1) and short hinge length (IgG3). GM 17-carriers were at almost three-fold higher risk of death than non-carriers (p < 0.001; OR = 2.86, CI 1.58–5.16). Subjects with short hinge length of IgG3 had a two-fold higher risk of death than those with medium hinge length (p = 0.01; OR = 2.16, CI 1.19–3.90). GM 3/3 and IGHG3 (MM) genotypes were less frequent among death vs. survivors (9% vs 36%, p < 0.001) and associated with protective effect (OR = 0.18, 95% CI = 0.08–0.39). This is the first report implicating IgG1 allotypes in COVID-19-spurred death. It needs to be replicated in an independent study population.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"113 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140561475","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 novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families 两个中国家庭中X连锁高IgM综合征的新型半杂合子CD40L突变和高IgE综合征的复合杂合子DOCK8突变

IF 3.2 4区医学

Immunogenetics Pub Date : 2024-04-08 DOI: 10.1007/s00251-024-01340-0

Mingzhen Guo, Yuanxuan Ma, Kangxi Cai, Xiuxiang Liu, Wenmiao Liu, Fengqi Wang, Niyan Qu, Shiguo Liu

{"title":"A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families","authors":"Mingzhen Guo, Yuanxuan Ma, Kangxi Cai, Xiuxiang Liu, Wenmiao Liu, Fengqi Wang, Niyan Qu, Shiguo Liu","doi":"10.1007/s00251-024-01340-0","DOIUrl":"https://doi.org/10.1007/s00251-024-01340-0","url":null,"abstract":"X-linked hyper-immunoglobulin M (X-HIGM) syndrome and autosomal recessive hyper-immunoglobulin E syndrome (HIES) are rare inborn errors of immunity characterized by recurrent infections due to immune system impairment. In this study, we identified a novel hemizygous CD40 ligand (CD40L) mutation and compound heterozygous dedicator of cytokinesis-8 (DOCK8) mutations in two Han Chinese families with X-HIGM and HIES, respectively. We aimed to investigate the association between their genotypes and phenotypes. Genomic DNA was extracted from peripheral blood samples obtained from the families. Whole exome sequencing and Sanger sequencing were performed to identify and verify pathogenic variants in the two families. Clinical analyses of the probands were also performed. A novel hemizygous mutation of CD40L in exon 2 (c.257delA) was identified in the first proband, resulting in the substitution of glycine with glutamic acid at codon 86 of the protein. This leads to premature termination of translation at downstream codon 9 (p.E86Gfs*9). Sanger sequencing confirmed that the variant was inherited from the mother. The second proband carried two novel compound heterozygous mutations in DOCK8: one at exon 14 (c.1546C > G) inherited from the father, and the other at intron 41 (c.5355 + 6C > T; splicing) inherited from the mother. This study enhances our understanding of the pathogenetic mutation spectrum of CD40L and DOCK8 genes, facilitating the prenatal diagnosis of X-HIGM and HIES and enabling timely treatment of patients.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"29 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140561284","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

Concise review: The heterogenous roles of BATF3 in cancer oncogenesis and dendritic cells and T cells differentiation and function considering the importance of BATF3-dependent dendritic cells. 简明综述：考虑到 BATF3 依赖性树突状细胞的重要性，BATF3 在癌症致癌、树突状细胞和 T 细胞分化及功能中的异质作用。

IF 3.2 4区医学

Immunogenetics Pub Date : 2024-04-01 Epub Date: 2024-02-15 DOI: 10.1007/s00251-024-01335-x

Reza Dabbaghipour, Elham Ahmadi, Mona Entezam, Omid Rahbar Farzam, Sepideh Sohrabi, Sajjad Jamali, Ali Saber Sichani, Hadi Paydar, Behzad Baradaran

{"title":"Concise review: The heterogenous roles of BATF3 in cancer oncogenesis and dendritic cells and T cells differentiation and function considering the importance of BATF3-dependent dendritic cells.","authors":"Reza Dabbaghipour, Elham Ahmadi, Mona Entezam, Omid Rahbar Farzam, Sepideh Sohrabi, Sajjad Jamali, Ali Saber Sichani, Hadi Paydar, Behzad Baradaran","doi":"10.1007/s00251-024-01335-x","DOIUrl":"10.1007/s00251-024-01335-x","url":null,"abstract":"The transcription factor, known as basic leucine zipper ATF-like 3 (BATF3), is a crucial contributor to the development of conventional type 1 dendritic cells (cDC1), which is definitely required for priming CD8 + T cell-mediated immunity against intracellular pathogens and malignancies. In this respect, BATF3-dependent cDC1 can bring about immunological tolerance, an autoimmune response, graft immunity, and defense against infectious agents such as viruses, microbes, parasites, and fungi. Moreover, the important function of cDC1 in stimulating CD8 + T cells creates an excellent opportunity to develop a highly effective target for vaccination against intracellular pathogens and diseases. BATF3 has been clarified to control the development of CD8α+ and CD103+ DCs. The presence of BATF3-dependent cDC1 in the tumor microenvironment (TME) reinforces immunosurveillance and improves immunotherapy approaches, which can be beneficial for cancer immunotherapy. Additionally, BATF3 acts as a transcriptional inhibitor of Treg development by decreasing the expression of the transcription factor FOXP3. However, when overexpressed in CD8 + T cells, it can enhance their survival and facilitate their transition to a memory state. BATF3 induces Th9 cell differentiation by binding to the IL-9 promoter through a BATF3/IRF4 complex. One of the latest research findings is the oncogenic function of BATF3, which has been approved and illustrated in several biological processes of proliferation and invasion.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"75-91"},"PeriodicalIF":3.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139735092","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

Determination for KIR genotype and allele copy number via real-time quantitative PCR method. 通过实时定量 PCR 方法确定 KIR 基因型和等位基因拷贝数。

IF 3.2 4区医学

Immunogenetics Pub Date : 2024-04-01 Epub Date: 2024-01-11 DOI: 10.1007/s00251-023-01331-7

Sudan Tao, Xuan You, Jielin Wang, Wei Zhang, Ji He, Faming Zhu

引用次数: 0

Causal effect of interleukin (IL)-6 on blood pressure and hypertension: A mendelian randomization study. 白细胞介素（IL）-6 对血压和高血压的因果效应：亡羊补牢式随机研究

IF 3.2 4区医学

Immunogenetics Pub Date : 2024-04-01 Epub Date: 2024-03-01 DOI: 10.1007/s00251-024-01332-0

Ou Wu, Ya Wu, Xingyu Zhang, Wei Liu, Hu Zhang, Saber Khederzadeh, Xi Lu, Xiao-Wei Zhu

{"title":"Causal effect of interleukin (IL)-6 on blood pressure and hypertension: A mendelian randomization study.","authors":"Ou Wu, Ya Wu, Xingyu Zhang, Wei Liu, Hu Zhang, Saber Khederzadeh, Xi Lu, Xiao-Wei Zhu","doi":"10.1007/s00251-024-01332-0","DOIUrl":"10.1007/s00251-024-01332-0","url":null,"abstract":"To examine whether circulating interleukin-6 (IL-6) levels (CirIL6) have a causal effect on blood pressure using Mendelian randomization (MR) methods. We used data from genome-wide association studies (GWAS) of European ancestry to obtain genetic instruments for circulating IL-6 levels and blood pressure measurements. We applied several robust MR methods to estimate the causal effects and to test for heterogeneity and pleiotropy. We found that circulating IL-6 had a significant positive causal effect on systolic blood pressure (SBP) and pulmonary arterial hypertension (PAH), but not on diastolic blood pressure (DBP) or hypertension. We found that as CirIL6 genetically increased, SBP increased using Inverse Variance Weighted (IVW) method (for ukb-b-20175, β = 0.082 with SE = 0.032, P = 0.011; for ukb-a-360, β = 0.075 with SE = 0.031, P = 0.014) and weighted median (WM) method (for ukb-b-20175, β = 0.061 with SE = 0.022, P = 0.006; for ukb-a-360, β = 0.065 with SE = 0.027, P = 0.014). Moreover, CirIL6 may be associated with an increased risk of PAH using WM method (odds ratio (OR) = 15.503, 95% CI, 1.025-234.525, P = 0.048), but not with IVW method. Our study provides novel evidence that circulating IL-6 has a causal role in the development of SBP and PAH, but not DBP or hypertension. These findings suggest that IL-6 may be a potential therapeutic target for preventing or treating cardiovascular diseases and metabolic disorders. However, more studies are needed to confirm the causal effects of IL-6 on blood pressure and to elucidate the underlying mechanisms and pathways.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"123-135"},"PeriodicalIF":3.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139996141","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

Regulation of genes involved in the metabolic adaptation of murine microglial cells in response to elevated HIF-1α mediated activation. 小鼠小胶质细胞对 HIF-1α 介导的活化升高的代谢适应相关基因的调控。

IF 3.2 4区医学

Immunogenetics Pub Date : 2024-04-01 Epub Date: 2024-02-08 DOI: 10.1007/s00251-024-01334-y

Ida Florance, Seenivasan Ramasubbu

{"title":"Regulation of genes involved in the metabolic adaptation of murine microglial cells in response to elevated HIF-1α mediated activation.","authors":"Ida Florance, Seenivasan Ramasubbu","doi":"10.1007/s00251-024-01334-y","DOIUrl":"10.1007/s00251-024-01334-y","url":null,"abstract":"Microglia cells are activated in response to different stress signals. Several metabolic adaptations underlie microglia activation in the brain. Among these, in conditions like ischemic stroke and, hypoxic stress stimuli activate microglia cells. Hypoxic stress is mediated by HIF-1α. Although HIF-1α has been implicated in the alteration of metabolic pathways, changes in microglia lipid metabolism during M1 activation of microglia induced by elevated HIF-1α levels are yet to be understood. This can also merit interest in the development of novel targets to mitigate chronic inflammation. Our study aims to elucidate the transcriptional regulation of metabolic pathways in microglia cells during HIF-1α mediated activation. To study the adaptations in the metabolic pathways we induced microglia activation, by activating HIF-1α. Here, we show that microglia cells activated in response to elevated HIF-1α require ongoing lipogenesis and fatty acid breakdown. Notably, autophagy is activated during the initial stages of microglia activation. Inhibition of autophagy in activated microglia affects their viability and phagocytic activity. Collectively, our study expands the understanding of the molecular link between autophagy, lipid metabolism, and inflammation during HIF-1α mediated microglial activation that can lead to the development of promising strategies for controlling maladaptive activation states of microglia responsible for neuroinflammation. Together, our findings suggest that the role of HIF-1α in regulating metabolic pathways during hypoxia in microglia is beyond optimization of glucose utilization and distinctly regulates lipid metabolism during pro-inflammatory activation.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"93-108"},"PeriodicalIF":3.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139702406","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

Resolving unknown nucleotides in the IPD-IMGT/HLA database by extended and full-length sequencing of HLA class I and II alleles. 通过对 HLA I 类和 II 类等位基因进行扩展和全长测序，解决 IPD-IMGT/HLA 数据库中的未知核苷酸问题。

IF 3.2 4区医学

Immunogenetics Pub Date : 2024-04-01 Epub Date: 2024-02-24 DOI: 10.1007/s00251-024-01333-z

Christina E M Voorter, Mathijs Groeneweg, Timo I Olieslagers, Ingrid Fae, Gottfried F Fischer, Marco Andreani, Maria Troiano, Blanka Vidan-Jeras, Sendi Montanic, Bouke G Hepkema, Laura B Bungener, Marcel G J Tilanus, Lotte Wieten

{"title":"Resolving unknown nucleotides in the IPD-IMGT/HLA database by extended and full-length sequencing of HLA class I and II alleles.","authors":"Christina E M Voorter, Mathijs Groeneweg, Timo I Olieslagers, Ingrid Fae, Gottfried F Fischer, Marco Andreani, Maria Troiano, Blanka Vidan-Jeras, Sendi Montanic, Bouke G Hepkema, Laura B Bungener, Marcel G J Tilanus, Lotte Wieten","doi":"10.1007/s00251-024-01333-z","DOIUrl":"10.1007/s00251-024-01333-z","url":null,"abstract":"In the past, identification of HLA alleles was limited to sequencing the region of the gene coding for the peptide binding groove, resulting in a lack of sequence information in the HLA database, challenging HLA allele assignment software programs. We investigated full-length sequences of 19 HLA class I and 7 HLA class II alleles, and we extended another 47 HLA class I alleles with sequences of 5' and 3' UTR regions that were all not yet available in the IPD-IMGT/HLA database. We resolved 8638 unknown nucleotides in the coding sequence of HLA class I and 2139 of HLA class II. Furthermore, with full-length sequencing of the 26 alleles, more than 90 kb of sequence information was added to the non-coding sequences, whereas extension of the 47 alleles resulted in the addition of 5.5 kb unknown nucleotides to the 5' UTR and > 31.7 kb to the 3' UTR region. With this information, some interesting features were observed, like possible recombination events and lineage evolutionary origins. The continuing increase in the availability of full-length sequences in the HLA database will enable the identification of the evolutionary origin and will help the community to improve the alignment and assignment accuracy of HLA alleles.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"109-121"},"PeriodicalIF":3.2,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10944811/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139944122","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

Costimulatory receptors in the channel catfish: CD28 family members and their ligands. 沟鲶的成本刺激受体：CD28 家族成员及其配体。

IF 3.2 4区医学

Immunogenetics Pub Date : 2024-02-01 Epub Date: 2024-01-10 DOI: 10.1007/s00251-023-01327-3

Sylvie M A Quiniou, Eva Bengtén, Pierre Boudinot

{"title":"Costimulatory receptors in the channel catfish: CD28 family members and their ligands.","authors":"Sylvie M A Quiniou, Eva Bengtén, Pierre Boudinot","doi":"10.1007/s00251-023-01327-3","DOIUrl":"10.1007/s00251-023-01327-3","url":null,"abstract":"The CD28-B7 interaction is required to deliver a second signal necessary for T-cell activation. Additional membrane receptors of the CD28 and B7 families are also involved in immune checkpoints that positively or negatively regulate leukocyte activation, in particular T lymphocytes. BTLA is an inhibitory receptor that belongs to a third receptor family. Fish orthologs exist only for some of these genes, and the potential interactions between the corresponding ligands remain mostly unclear. In this work, we focused on the channel catfish (Ictalurus punctatus), a long-standing model for fish immunology, to analyze these co-stimulatory and co-inhibitory receptors. We identified one copy of cd28, ctla4, cd80/86, b7h1/dc, b7h3, b7h4, b7h5, two btla, and four b7h7 genes. Catfish CD28 contains the highly conserved mammalian cytoplasmic motif for PI3K and GRB2 recruitment, however this motif is absent in cyprinids. Fish CTLA4 share a C-terminal putative GRB2-binding site but lacks the mammalian PI3K/GRB2-binding motif. While critical V-domain residues for human CD80 or CD86 binding to CD28/CTLA4 show low conservation in fish CD80/86, C-domain residues are highly conserved, underscoring their significance. Catfish B7H1/DC had a long intracytoplasmic domain with a P-loop-NTPase domain that is absent in mammalian sequences, while the lack of NLS motif in fish B7H4 suggests this protein may not regulate cell growth when expressed intracellularly. Finally, there is a notable expansion of fish B7H7s, which likely play diverse roles in leukocyte regulation. Overall, our work contributes to a better understanding of fish leukocyte co-stimulatory and co-inhibitory receptors.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"51-67"},"PeriodicalIF":3.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139402639","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