Journal of Immunology Research最新文献

{"title":"Protein Expression of TLR2, TLR4, and TLR9 on Monocytes in TB, HIV, and TB/HIV","authors":"Wegene Tamene, Liya Wassie, Vincent C. Marconi, Meseret Abebe, Amha Kebede, Ulrich Sack, Rawleigh Howe","doi":"10.1155/2024/9399524","DOIUrl":"https://doi.org/10.1155/2024/9399524","url":null,"abstract":"Toll-like receptors (TLRs) have a critical role in recognizing pathogenic patterns and initiating immune responses against TB and HIV. Previously, studies described the gene expression of TLRs in patients with TB and HIV. Here, we demonstrated TLRs protein expressions and their association with clinical status and plasma markers in TB, HIV, and TB/HIV coinfection. The phenotyping of TLR2, TLR4, and TLR9 on CD14+ monocytes and their subsets were determined by multicolor flow cytometry. Host plasma biomarkers and microbial indices were measured using Luminex Multiplex assay and standard of care tools, respectively. TLR2 expression significantly enhanced in TB, slightly increased in HIV but slightly reduced in TB/HIV coinfection compared to apparently health controls (HC). On the other hand, TLR4 expression was significantly increased in TB, HIV, and TB/HIV compared to HC. Expression of TLR4 was equally enhanced on classical and intermediate monocytes while higher TLR2 expression on intermediate than classical monocytes. TLR4 had a positive correlation pattern with plasma biomarkers while TLR2 had an inverse correlation pattern. TLR4 is associated with disease severity while TLR2 is with the immune-competent status of patients. Our findings demonstrated that the pattern of TLR expression is disease as well as monocyte subset specific and distinct factors drive these differences.","PeriodicalId":15952,"journal":{"name":"Journal of Immunology Research","volume":"4 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140615474","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}

{"title":"Dendritic Cell-Based Immunotherapy: The Importance of Dendritic Cell Migration","authors":"Min-Seon Song, Ji-Hee Nam, Kyung-Eun Noh, Dae-Seog Lim","doi":"10.1155/2024/7827246","DOIUrl":"https://doi.org/10.1155/2024/7827246","url":null,"abstract":"Dendritic cells (DCs) are specialized antigen-presenting cells that are crucial for maintaining self-tolerance, initiating immune responses against pathogens, and patrolling body compartments. Despite promising aspects, DC-based immunotherapy faces challenges that include limited availability, immune escape in tumors, immunosuppression in the tumor microenvironment, and the need for effective combination therapies. A further limitation in DC-based immunotherapy is the low population of migratory DC (around 5%–10%) that migrate to lymph nodes (LNs) through afferent lymphatics depending on the LN draining site. By increasing the population of migratory DCs, DC-based immunotherapy could enhance immunotherapeutic effects on target diseases. This paper reviews the importance of DC migration and current research progress in the context of DC-based immunotherapy.","PeriodicalId":15952,"journal":{"name":"Journal of Immunology Research","volume":"50 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140580191","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}

{"title":"The Question of HIV Vaccine: Why Is a Solution Not Yet Available?","authors":"Martina Libera, Valeria Caputo, Giulia Laterza, Louiza Moudoud, Alessio Soggiu, Luigi Bonizzi, Roberta A. Diotti","doi":"10.1155/2024/2147912","DOIUrl":"https://doi.org/10.1155/2024/2147912","url":null,"abstract":"Ever since its discovery, human immunodeficiency virus type 1 (HIV-1) infection has remained a significant public health concern. The number of HIV-1 seropositive individuals currently stands at 40.1 million, yet definitive treatment for the virus is still unavailable on the market. Vaccination has proven to be a potent tool in combating infectious diseases, as evidenced by its success against other pathogens. However, despite ongoing efforts and research, the unique viral characteristics have prevented the development of an effective anti-HIV-1 vaccine. In this review, we aim to provide an historical overview of the various approaches attempted to create an effective anti-HIV-1 vaccine. Our objective is to explore the reasons why specific methods have failed to induce a protective immune response and to analyze the different modalities of immunogen presentation. This trial is registered with NCT05414786, NCT05471076, NCT04224701, and NCT01937455.","PeriodicalId":15952,"journal":{"name":"Journal of Immunology Research","volume":"90 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140580200","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}

{"title":"Circulating Immune Landscape Profiling in Psoriasis Vulgaris and Psoriatic Arthritis by Mass Cytometry","authors":"Xudong Sang, Tian Gan, Gai Ge, Dan Li, Youming Mei, Chun Pan, Siyu Long, Bibo Xie, Xiaobing Yu, Zhiming Chen, Hongsheng Wang","doi":"10.1155/2024/9927964","DOIUrl":"https://doi.org/10.1155/2024/9927964","url":null,"abstract":"<i>Background</i>. Psoriasis, a systemic disorder mediated by the immune system, can appear on the skin, joints, or both. Individuals with cutaneous psoriasis (PsC) have an elevated risk of developing psoriatic arthritis (PsA) during their lifetime. Despite this known association, the cellular and molecular mechanisms underlying this progression remain unclear. <i>Methods</i>. We performed high-dimensional, in-depth immunophenotyping of peripheral blood mononuclear cells (PBMCs) in patients with PsA and psoriasis vulgaris (PsV) by mass cytometry. Blood samples were collected before and after therapy for a longitudinal study. Then three sets of comparisons were made here: active PsA <i>vs</i>. active PsV, untreated PsV <i>vs</i>. treated PsV, and untreated PsA <i>vs</i>. treated PsA. <i>Results</i>. Marked differences were observed in multiple lymphocyte subsets of PsA related to PsV, with expansion of CD4⁺ T cells, CD16⁻ NK cells, and B cells. Notably, two critical markers, CD28 and CD127, specifically differentiated PsA from PsV. The expression levels of CD28 and CD127 on both Naïve T cells (T_N) and central memory CD4⁺ T cells (T_CM) were considerably higher in PsA than PsV. Meanwhile, after treatment, patients with PsV had higher levels of CD28^hi CD127^hi CD4⁺ T_CM cells, CD28^hi CD127^hi CD4⁺ T_N cells, and CD16⁻ NK cells. <i>Conclusion</i>. In the circulation of PsA patients, the T_N and CD4⁺ T_CM are characterized with more abundant CD28 and CD127, which effectively distinguished PsA from PsV. This may indicate that individuals undergoing PsV could be stratified at high risk of developing PsA based on the circulating levels of CD28 and CD127 on specific cell subsets.","PeriodicalId":15952,"journal":{"name":"Journal of Immunology Research","volume":"84 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140580097","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}

{"title":"Develop a Novel Signature to Predict the Survival and Affect the Immune Microenvironment of Osteosarcoma Patients: Anoikis-Related Genes","authors":"Mingyi Yang, Yani Su, Ke Xu, Haishi Zheng, Yongsong Cai, Pengfei Wen, Zhi Yang, Lin Liu, Peng Xu","doi":"10.1155/2024/6595252","DOIUrl":"https://doi.org/10.1155/2024/6595252","url":null,"abstract":"&lt;i&gt;Objective&lt;/i&gt;. Osteosarcoma (OS) represents a prevalent primary bone neoplasm predominantly affecting the pediatric and adolescent populations, presenting a considerable challenge to human health. The objective of this investigation is to develop a prognostic model centered on anoikis-related genes (ARGs), with the aim of accurately forecasting the survival outcomes of individuals diagnosed with OS and offering insights into modulating the immune microenvironment. &lt;i&gt;Methods&lt;/i&gt;. The study’s training cohort comprised 86 OS patients sourced from The Cancer Genome Atlas database, while the validation cohort consisted of 53 OS patients extracted from the Gene Expression Omnibus database. Differential analysis utilized the GSE33382 dataset, encompassing three normal samples and 84 OS samples. Subsequently, the study executed gene ontology and Kyoto encyclopedia of genes and genomes enrichment analyses. Identification of differentially expressed ARGs associated with OS prognosis was carried out through univariate COX regression analysis, followed by LASSO regression analysis to mitigate overfitting risks and construct a robust prognostic model. Model accuracy was assessed via risk curves, survival curves, receiver operating characteristic curves, independent prognostic analysis, principal component analysis, and t-distributed stochastic neighbor embedding (t-SNE) analysis. Additionally, a nomogram model was devised, exhibiting promising potential in predicting OS patient prognosis. Further investigations incorporated gene set enrichment analysis to delineate active pathways in high- and low-risk groups. Furthermore, the impact of the risk prognostic model on the immune microenvironment of OS was evaluated through tumor microenvironment analysis, single-sample gene set enrichment analysis (ssGSEA), and immune infiltration cell correlation analysis. Drug sensitivity analysis was conducted to identify potentially effective drugs for OS treatment. Ultimately, the verification of the implicated ARGs in the model construction was conducted through the utilization of real-time quantitative polymerase chain reaction (RT-qPCR). &lt;i&gt;Results&lt;/i&gt;. The ARGs risk prognostic model was developed, comprising seven high-risk ARGs (CBS, MYC, MMP3, CD36, SCD, COL13A1, and HSP90B1) and four low-risk ARGs (VASH1, TNFRSF1A, PIP5K1C, and CTNNBIP1). This prognostic model demonstrates a robust capability in predicting overall survival among patients. Analysis of immune correlations revealed that the high-risk group exhibited lower immune scores compared to the low-risk group within our prognostic model. Specifically, CD8+ T cells, neutrophils, and tumor-infiltrating lymphocytes were notably downregulated in the high-risk group, alongside significant downregulation of checkpoint and T cell coinhibition mechanisms. Additionally, three immune checkpoint-related genes (CD200R1, HAVCR2, and LAIR1) displayed significant differences between the high- and low-risk groups. The utiliz","PeriodicalId":15952,"journal":{"name":"Journal of Immunology Research","volume":"2 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140311634","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}

{"title":"Identification of Specific Cell Surface Markers on Immune Cells of Squirrel Monkeys (Saimiri sciureus)","authors":"Bharti P. Nehete, Ashley DeLise, Pramod N. Nehete","doi":"10.1155/2024/8215195","DOIUrl":"https://doi.org/10.1155/2024/8215195","url":null,"abstract":"Nonhuman primates are an important experimental model for the development of targeted biological therapeutics because of their immunological closeness to humans. However, there are very few antibody reagents relevant for delineating the different immune cell subsets based on nonhuman primate antigens directly or with cross-reactivity to those in humans. Here, we report specific expression of HLA-DR, PD-1, and CD123 on different circulating immune cell subsets in the peripheral blood that included T cells (CD3+), T cells subsets (CD4+ and CD8+), B cells (CD20+), natural killer (NK) cells (CD3–CD16+), and natural killer T cells (CD3+CD16+) along with different monocyte subsets in squirrel monkey (<i>Saimiri sciureus</i>). We established cross-reactivity of commercial mouse antihuman monoclonal antibodies (mAbs), with these various immune cell surface markers. These findings should aid further future comprehensive understanding of the immune parameters and identification of new biomarkers to significantly improve SQM as a model for biomedical studies.","PeriodicalId":15952,"journal":{"name":"Journal of Immunology Research","volume":"3 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140300612","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}

{"title":"SerpinB3/B4 Abates Epithelial Cell-Derived CXCL8/IL-8 Expression in Chronic Rhinosinusitis with Nasal Polyps","authors":"Xiangting Bu, Ming Wang, Jing Yuan, Jing Song, Ge Luan, Jiaqi Yu, Yang Wang, Ying Li, Chengshuo Wang, Luo Zhang","doi":"10.1155/2024/8553447","DOIUrl":"https://doi.org/10.1155/2024/8553447","url":null,"abstract":"<i>Background</i>. Serine proteinase inhibitors, clade B, member 3 (SerpinB3) and B4 are highly similar in amino acid sequences and associated with inflammation regulation. We investigated SerpinB3 and B4 expression and their roles in chronic rhinosinusitis with nasal polyps (CRSwNP). <i>Methods</i>. The expression of SerpinB3 and B4 in nasal mucosa tissues, brush cells, and secretions from CRSwNP patients was measured, and their regulation by inflammatory cytokines were investigated. Their functions were also analyzed using air–liquid interface (ALI)-cultured primary human nasal epithelial cells (HNECs) and transcriptomic analysis. <i>Results</i>. Both SerpinB3 and B4 expression was higher in nasal mucosa, brush cells, and secretions from eosinophilic (E) CRSwNP and nonECRSwNP patients than in healthy controls. Immunofluorescence staining indicated that SerpinB3 and B4 were primarily expressed in epithelial cells and their expression was higher in CRSwNP patients. SerpinB3 and B4 expression was upregulated by interleukin-4 (IL-4), IL-5, IL-6, and IL-17a. Transcriptomic analysis identified differentially expressed genes (DEGs) in response to recombinant SerpinB3 and B4 stimulation. Both the DEGs of SerpinB3 and B4 were associated with disease genes of nasal polyps and inflammation in DisGeNET database. Pathway enrichment indicated that downregulated DEGs of SerpinB3 and B4 were both enriched in cytokine–cytokine receptor interactions, with CXCL8 as the hub gene in the protein–protein interaction networks. Furthermore, CXCL8/IL-8 expression was downregulated by recombinant SerpinB3 and B4 protein in ALI-cultured HNECs, and upregulated when knockdown of SerpinB3/B4. <i>Conclusion</i>. SerpinB3/B4 expression is upregulated in nasal mucosa of CRSwNP patients. SerpinB3/B4 may play an anti-inflammatory role in CRSwNP by inhibiting the expression of epithelial cell-derived CXCL8/IL-8.","PeriodicalId":15952,"journal":{"name":"Journal of Immunology Research","volume":"24 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140201484","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}

{"title":"An Aloe-Based Composition Constituting Polysaccharides and Polyphenols Protected Mice against D-Galactose-Induced Immunosenescence","authors":"Mesfin Yimam, Teresa Horm, Alexandria O’Neal, Ping Jiao, Mei Hong, Qi Jia","doi":"10.1155/2024/9307906","DOIUrl":"https://doi.org/10.1155/2024/9307906","url":null,"abstract":"A decline in immune response, exhibited in the form of immunosenescence and inflammaging, is an age-associated disturbance of the immune system known to predispose the elderly to a greater susceptibility to infection and poor vaccine response. Polysaccharides and polyphenols from botanicals are known for their immune modulation effects. Here we evaluated a standardized mushroom-based composition, UP360, from <i>Aloe barbadensis</i>, <i>Poria co</i>cos, and <i>Rosmarinus officinalis</i>, as a natural nutritional supplement for a balanced immune response in an accelerated aging mouse model. Immunosenescence was induced by continual subcutaneous injection of <small>D</small>-galactose (<small>D</small>-gal) at a dose of 500 mg/kg/day to CD-1 mice. UP360 was administered at oral doses of 200 and 400 mg/kg to the mice starting on the 5^th week of <small>D</small>-gal injection. The study lasted for a total of 9 weeks. All mice were given a quadrivalent influenza vaccine at 3 <i>µ</i>g/animal via intramuscular injection 14 days before the end of the study. A group of <small>D</small>-gal-treated mice treated at 400 mg/kg/day UP360 was kept without vaccination. Whole blood, serum, spleen homogenate, and thymus tissues were used for analysis. UP360 was found to improve the immune response as evidenced by stimulation of innate and adaptive immune responses, increase antioxidant capacity as reflected by augmented SOD and Nrf2, and preserve vital immune organs, such as the thymus, from aging-associated damage. The findings depicted in this report show the effect of the composition in activating and maintaining homeostasis of the immune system both during active infections and as a preventive measure to help prime the immune system. These data warrant further clinical study to explore the potential application of the mushroom-based composition as an adjunct nutritional supplement for a balanced immune response.","PeriodicalId":15952,"journal":{"name":"Journal of Immunology Research","volume":"104 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140128861","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}

{"title":"The Disease Burden of Hereditary Angioedema: Insights from a Survey in French-Canadians from Quebec","authors":"Jean-Nicolas Boursiquot, Hugo Chapdelaine, Charles St-Pierre, Jacques Hébert","doi":"10.1155/2024/3028617","DOIUrl":"https://doi.org/10.1155/2024/3028617","url":null,"abstract":"<i>Background</i>. Limited data are available on the clinical profile and disease burden of hereditary angioedema (HAE) in Canadians. <i>Objective</i>. This study aimed to assess HAE disease characteristics and the burden of disease in Canadians with HAE types I, II, and normal levels of C1 inhibitor (nC1-INH). <i>Materials and Methods</i>. A 46-item patient survey evaluating clinical characteristics and burden of disease was developed and disseminated by the HAE patient organization <i>Angio-oédeme héréditaire du Québec</i> in Quebec, Canada, from May 2019 to February 2020. The survey received Research Review Board ethics approval. <i>Results</i>. In the 35 respondents, HAE type I was the most common (46%), followed by nC1-INH (43%). Female participants were significantly younger at first symptom presentation than males (<span><svg height=\"11.7782pt\" style=\"vertical-align:-3.42938pt\" version=\"1.1\" viewbox=\"-0.0498162 -8.34882 18.973 11.7782\" width=\"18.973pt\" xmlns=\"http://www.w3.org/2000/svg\" xmlns:xlink=\"http://www.w3.org/1999/xlink\"><g transform=\"matrix(.013,0,0,-0.013,0,0)\"></path></g><g transform=\"matrix(.013,0,0,-0.013,11.342,0)\"></path></g></svg><span></span><span><svg height=\"11.7782pt\" style=\"vertical-align:-3.42938pt\" version=\"1.1\" viewbox=\"22.555183800000002 -8.34882 21.921 11.7782\" width=\"21.921pt\" xmlns=\"http://www.w3.org/2000/svg\" xmlns:xlink=\"http://www.w3.org/1999/xlink\"><g transform=\"matrix(.013,0,0,-0.013,22.605,0)\"></path></g><g transform=\"matrix(.013,0,0,-0.013,28.845,0)\"></path></g><g transform=\"matrix(.013,0,0,-0.013,31.809,0)\"><use xlink:href=\"#g113-49\"></use></g><g transform=\"matrix(.013,0,0,-0.013,38.049,0)\"></path></g></svg>).</span></span> Prior to diagnosis, 69% of participants underwent unnecessary treatments and procedures, with a 10-year delay between first symptoms and diagnosis. Before starting the current treatment, 42% of participants experienced weekly HAE attacks. Most participants identified experiencing attacks in the abdomen (89%), followed by the larynx (66%), feet (66%), hands (63%), and face (63%). Most attacks were severe or moderate, yet almost half of patients waited &gt;1 hr before getting medical attention at their last emergency department (ED) visit. HAE was associated with decreased health-related quality of life, leading to significant functional impairment in personal and professional life. As compared to HAE type I/II, patients with HAE nC1-INH were treated more often with tranexamic acid for long-term prophylaxis, and their condition was less controlled, resulting in more attacks and ED visits. <i>Conclusion</i>. HAE manifests in this patient population as frequent moderate-to-severe attacks and a high disease burden; the HAE subtype may differentially affect care requirements. There is an urgent need for increased awareness and education on HAE among treating physicians.","PeriodicalId":15952,"journal":{"name":"Journal of Immunology Research","volume":"45 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140057723","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}

{"title":"Clinical and Genetic Spectrum of Nine Cases of NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) and Identification of One Novel NLRP3 Mutation by Genetic Variation Analyses","authors":"Yaoyao Shangguan, Xingru Ding, Le Ma, Yi-Xin Cai, Shulei Xiang, Xiu-Feng Huang, Yunyan Shen, Hai-Guo Yu, Wenjie Zheng","doi":"10.1155/2024/5722548","DOIUrl":"https://doi.org/10.1155/2024/5722548","url":null,"abstract":"<i>Purpose</i>. NLRP3-associated autoinflammatory disease (NLRP3-AID) is characterized by gain-of-function variants in the NLRP3 gene. Since there are little literature focusing on pediatric NLRP3-AID in China, we aimed to elucidate the phenotypic and genotypic profiles of Chinese patients with NLRP3-AID. <i>Methods</i>. Patients with NLRP3-AID at three rheumatology centers in China were genotyped through whole exome sequencing or gene panel sequencing. Sanger sequencing was performed on all patients and their parents. Clinical phenotype, treatment, and prognosis were analyzed. <i>Results</i>. Nine patients with NLRP3-AID were enrolled between December 2014 and October 2022 with an average follow-up period exceeding 30 months. The median age of onset was 12 months, and 66.7% were younger than 3 years old. The diagnosis was significantly delayed and the median delay duration was 115 months. The patients most commonly presented with rash (100%), arthritis/arthralgia (88.9%), lymphadenopathy (88.9%), fever (77.8%), and growth retardation (44.4%). During acute attack, white blood cell, C-reactive protein, and/or erythrocyte sedimentation rate all increased in all cases, and inflammatory markers remained elevated beyond 7 days postfever resolution in 57.1% of patients (4/7). Two cases of chronic infantile neurological cutaneous articular syndrome (CINCA) had clubbed fingers, one with interstitial lung disease, a finding rarely reported. Treatment with glucocorticoids (77.8%) and biologic agents (33.3%) yielded 66% complete remission and 33% partial remission. Genetic analysis identified eight pathogenic NLRP3 missense mutations, including one novel mutation. <i>Conclusions</i>. Our study illuminated the distinct clinical and genetic features of Chinese NLRP3-AID patients, emphasizing the significance of early genetic screening. Despite delayed diagnosis, treatment primarily with glucocorticoids and biologic agents, led to favorable outcomes. Genetic heterogeneity, including a novel mutation, highlighted the complexity of NLRP3-AID in this population.","PeriodicalId":15952,"journal":{"name":"Journal of Immunology Research","volume":"73 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140045277","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}