BMC Immunology最新文献

{"title":"The association of peripheral blood inflammatory markers with the distribution patterns of IgE in children with allergen sensitization.","authors":"Hanyu Shen, Peipei Zhao, Lele Shang, Shougang Kuai","doi":"10.1186/s12865-025-00762-z","DOIUrl":"10.1186/s12865-025-00762-z","url":null,"abstract":"<p><strong>Objective: </strong>The present study aimed to explore the distribution patterns of IgE characteristics and peripheral blood inflammatory markers in pediatric patients with allergic reactions.</p><p><strong>Methods: </strong>Patients' data were collected, including age, gender, and peripheral blood parameters, including white blood cells (WBC), neutrophils (NEU), lymphocytes (LYM), monocytes (MON), eosinophils (EOS), red blood cells (RBC), and platelets (PLT). Serum total Immunoglobulin E (tIgE) assays were performed using a fully automated specific protein analysis system, and specific Immunoglobulin E (sIgE) was detected through the AllergyScreen assay. The clinical data of these patients were retrospectively analyzed.</p><p><strong>Results: </strong>A total of 405 samples were included in the study, including 335 patients and 70 normal controls. Our study reveals that aeroallergens are the main cause of allergic reactions in children, and 26.3% of sensitized pediatric subjects exhibit atypical immunological profiles characterized by non-elevated tIgE expressions and low sIgE sensitization. Notably, the Eosinophil-to-Lymphocyte Ratio (ELR) demonstrates significant predictive value for IgE pattern and exhibits a positive correlation (p < 0.001) with tIgE sensitization intensity.</p><p><strong>Conclusion: </strong>These findings position ELR as a promising peripheral blood inflammatory biomarker for assessing the risk of anaphylaxis in pediatric patients with both tIgE and sIgE elevation.</p>","PeriodicalId":9040,"journal":{"name":"BMC Immunology","volume":"26 1","pages":"75"},"PeriodicalIF":2.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12481958/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190895","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}

{"title":"The prevalence of allergic manifestations in inborn errors of immunity: a retrospective cohort study.","authors":"Hossein Esmaeilzadeh, Maryam Esmaeilbeig, Aida Askarisarvestani, Soheila Alyasin, Seyed Hesamodin Nabavizadeh","doi":"10.1186/s12865-025-00758-9","DOIUrl":"10.1186/s12865-025-00758-9","url":null,"abstract":"","PeriodicalId":9040,"journal":{"name":"BMC Immunology","volume":"26 1","pages":"73"},"PeriodicalIF":2.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12481823/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190883","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}

{"title":"Thrombocytopenia in patients with inborn errors of immunity.","authors":"Saba Fekrvand, Maryam Mohtashami, Negin Sanadgol, Helia Salehi, Najmeh Nameh Goshay Fard, Ehsan Khoshnezhad Afkham, Zahra Chavoshzadeh, Nima Parvaneh, Seyed Alireza Mahdaviani, Samin Sharafian, Sahar Barzamini, Hamid Ahanchian, Arash Kalantari, Alireza Shafiei, Marzieh Tavakol, Farhad Abolnezhadian, Mina Kianmanesh Rad, Gholamreza Hassanpour, Taher Cheraghi, Amir Salehi Farid, Samaneh Delavari, Hassan Abolhassani, Nima Rezaei, Reza Yazdani","doi":"10.1186/s12865-025-00761-0","DOIUrl":"10.1186/s12865-025-00761-0","url":null,"abstract":"<p><strong>Background: </strong>Inborn errors of immunity (IEI) are inherited defects of innate or adaptive immune system. Thrombocytopenia is a significant multifactorial complication in IEI patients leading to severe clinical consequences including coagulative disorders and vasculopathies.</p><p><strong>Methods: </strong>In the present study, we assessed frequency of thrombocytopenia in the most common IEI including combined immunodeficiency (CID), common variable immunodeficiency (CVID), selective immunoglobulin A deficiency (SIgAD), agammaglobulinemia (AGA), hyper immunoglobulin M (HIGM) syndrome, chronic granulomatous disease (CGD) and congenital neutropenia (CN). Also, we compared demographic, clinical and laboratory data between IEI patients with and without thrombocytopenia.</p><p><strong>Results: </strong>A total of 890 patients (37% female) were included in this study. The frequency of thrombocytopenia in total IEI was 26.6%. Patients with CID and SIgAD had the highest and lowest frequency of thrombocytopenia (50.9% and 8.7%), respectively. Although rare, thrombocytopenia was more severe (< 50000/ul) among patients with AGA compared to other IEI entities. Notably hepatosplenomegaly and autoimmunity were significantly associated with thrombocytopenia and higher mortality in patients with humoral immunodeficiencies.</p><p><strong>Conclusion: </strong>The significant association between thrombocytopenia with lymphoproliferation and autoimmunity emphasizes the importance of paying attention to these clinical features for suspecting IEI disorders. Understanding the pathophysiology of thrombocytopenia in various genetic defects associated with IEI is required for the development of proper diagnostic and therapeutic techniques as well as improved quality of life of these patients.</p>","PeriodicalId":9040,"journal":{"name":"BMC Immunology","volume":"26 1","pages":"74"},"PeriodicalIF":2.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12482213/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190978","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}

{"title":"Establishment and validation of a recurrent prediction model for glioma: extrinsic apoptotic molecules FADD and CASP8 are closely associated with glioma recurrence.","authors":"Lanying Li, Lei Yang, Yanfang Zhang","doi":"10.1186/s12865-025-00746-z","DOIUrl":"10.1186/s12865-025-00746-z","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Glioma represents the most prevalent and aggressive primary brain tumor in humans. Tumor heterogeneity, the immunosuppressive tumor microenvironment, and therapeutic resistance contribute to the inevitable recurrence of gliomas, posing significant clinical challenges. Understanding the risk factors and molecular mechanisms underlying glioma recurrence and progression is critical for improving patient outcomes. In this study, we aimed to develop a recurrence-associated gene signature to predict clinical recurrence and survival outcomes while elucidating potential molecular mechanisms driving glioma recurrence.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Gene expression profiles and clinicopathological data were obtained from the Chinese Glioma Genome Atlas (CGGA) database. The CGGA-693 cohort served as the training set, while the CGGA-325 cohort and TCGA database were used for validation. A prognostic model was constructed using LASSO regression analysis. Cox regression and Kaplan-Meier survival analyses were employed to assess prognostic significance. Functional enrichment analyses, including Gene Ontology (GO), Gene Set Variation Analysis (GSVA), and Pearson correlation analysis, were conducted to explore biological pathways. We applied the T-test to analyze the expression levels of apoptotic molecules in primary versus recurrent gliomas, low-grade versus high-grade gliomas, as well as in the high versus low recurrence score groups. Furthermore, correlation analysis was performed to elucidate the relationship between six classic apoptotic genes and the recurrence score. By utilizing the STRING protein-interaction network, we systematically investigated the correlations between these six classic apoptotic genes and the 9-gene signature. RNA expression levels of CASP8 and FADD across various tissues were obtained from the NCBI database and the Human Protein Atlas database. Additionally, the protein levels of CASP8 and FADD in normal brain tissues were retrieved from the Human Protein Atlas database. Statistical analyses and visualization were performed using R software.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;A 9-gene recurrence-associated signature (AC062021.1, CCT7P2, CTB-1I21.1, DGCR6, RP11- 158M2.5, SLC22A6, SLC25A48, ADAM12, and FAM225B) was established, demonstrating robust predictive performance. Multivariate analysis confirmed that the recurrence score serves as an independent prognostic factor for glioma patients. Functional annotation revealed a significant association between the signature and apoptotic pathways. Subsequent analysis indicated that extrinsic apoptosis-related molecules (FADD and CASP8), rather than intrinsic apoptotic molecules (BCL2 and CASP9), were strongly correlated with glioma recurrence. Additionally, we characterized the expression patterns of key extrinsic apoptotic mediators, FADD and CASP8, in both normal and tumor tissues.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;Our study successfully developed a predi","PeriodicalId":9040,"journal":{"name":"BMC Immunology","volume":"26 1","pages":"71"},"PeriodicalIF":2.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12465967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173547","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}

{"title":"Efficacy and safety of gut microbiota-targeted therapy in patients with psoriasis: a systematic review and meta-analysis of randomized controlled trials.","authors":"Li Zhu, Yanzhen Zhu, Jing Xie, Yan Zhang, Jinmeng Wang, Hezi Ji, Xiuyan Wang","doi":"10.1186/s12865-025-00747-y","DOIUrl":"10.1186/s12865-025-00747-y","url":null,"abstract":"","PeriodicalId":9040,"journal":{"name":"BMC Immunology","volume":"26 1","pages":"72"},"PeriodicalIF":2.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12465808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173521","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}

{"title":"Enfortumab vedotin promotes PD-L1 expression in urothelial carcinoma via NF-κB and STAT3 pathways highlighting mechanisms of immune evasion and potential for combination therapy.","authors":"Hirohito Naito, Rikiya Taoka, Xia Zhang, Akram Hossain, Yohei Abe, Mikio Sugimoto","doi":"10.1186/s12865-025-00751-2","DOIUrl":"10.1186/s12865-025-00751-2","url":null,"abstract":"<p><strong>Background: </strong>PD-1/PD-L1 inhibitors have revolutionized urothelial carcinoma (UC) treatment; however, the effects of prior or concurrent therapies on PD-L1 regulation remain unclear. This study investigates whether enfortumab vedotin (EV), a nectin-4-targeting antibody-drug conjugate, modulates PD-L1 expression in UC cells, and explores the underlying molecular pathways.</p><p><strong>Methods: </strong>UC cell lines RT4 (high nectin-4 expression) and T24 (low nectin-4 expression) were treated with EV (10 µg/ml) for 6, 12, or 24 h, followed by a 48-hour drug-free period. Protein and mRNA expression levels of PD-L1, NF-κB, and STAT3 were quantified using western blotting and qRT-PCR.</p><p><strong>Results: </strong>EV treatment upregulated PD-L1, NF-κB, and STAT3 in a time-dependent manner, with a more pronounced effect observed in RT4 than in T24 cells. PD-L1 protein levels increased 0.761-fold (12 h) and 2.399-fold (24 h) in RT4, whereas T24 showed a decrease (0.517-fold at 12 h) or minimal change (0.006-fold at 24 h). NF-κB expression increased 64.42-fold (12 h) and 97.03-fold (24 h) in RT4, compared to 1.251-fold (12 h) and 1.210-fold (24 h) in T24. STAT3 levels rose 2.334-fold (12 h) and 2.844-fold (24 h) in RT4, whereas T24 showed increases of 1.620-fold (12 h) and 1.379-fold (24 h). At the mRNA level (6 h post-treatment), PD-L1, NF-κB, and STAT3 were upregulated by 1.228-, 1.332-, and 1.225-fold, respectively, in RT4 cells.</p><p><strong>Conclusion: </strong>EV is associated with increased PD-L1 expression, along with upregulation of NF-κB and STAT3, suggesting a mechanistic link that may contribute to immune modulation in nectin-4-high bladder cancer cells. These findings highlight the need for combination strategies integrating EV with PD-1/PD-L1 inhibitors to optimize therapeutic outcomes in UC.</p>","PeriodicalId":9040,"journal":{"name":"BMC Immunology","volume":"26 1","pages":"70"},"PeriodicalIF":2.7,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12465518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147737","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}

{"title":"Correlation of TNF-α and IL-6 expression with vitamin D levels in insulin-resistant type 2 diabetes mellitus patients: exploring the role of vitamin D in inflammation and disease pathogenesis.","authors":"Muhammad Razi Ul Islam Hashmi, Sarah Sadiq, Shoaib Naiyar Hashmi, Rumsha Zubair, Huma Shafique, Tayyaba Afsar, Dara Aldisi, Suhail Razak","doi":"10.1186/s12865-025-00754-z","DOIUrl":"10.1186/s12865-025-00754-z","url":null,"abstract":"<p><strong>Background: </strong>Chronic low-grade inflammation is often seen in individuals with insulin resistance, characterised by increased levels of pro-inflammatory cytokines, such as TNF-α (tumour necrosis factor-alpha) and IL-6 (interleukin-6). Insulin resistance (IR) and vitamin D deficiency are increasingly recognised as interconnected metabolic issues. Research indicated that low vitamin D levels may impair insulin sensitivity, while insulin resistance can worsen vitamin D deficiency, creating a vicious cycle. This study aims to explore the relationship between TNF-α and IL-6 expression levels and vitamin D levels in insulin-resistant patients with type 2 diabetes mellitus (DM), and compare them with non-diabetic controls to better understand the role of vitamin D in inflammation, disease development, and progression.</p><p><strong>Methods: </strong>From a total of 150 participants, 30 were healthy individuals (the control group), and 120 were patients with type II diabetes. The current case-control study compared TNF-α, IL-6 expression levels, and serum vitamin D levels between insulin-resistant patients and non-diabetic controls.</p><p><strong>Results: </strong>The demographic and clinical variables were statistically significant. The case-to-control ratio was 4:1. Higher levels of TNF-α and IL-6 were found in DM patients compared to non-diabetic controls. Insulin-resistant patients exhibited higher IL-6 levels (5.47 ± 0.30 pg/ml) than healthy participants (2.64 ± 0.83 pg/ml), with p-value < 0.001. Vitamin D levels were significantly lower in DM patients (22.33 ± 11.43 ng/ml) compared to healthy subjects (34.12 ± 2.08 ng/ml), with p-value < 0.001. TNF-α levels were also significantly higher in DM patients (7.99 ± 0.35 pg/ml) (p-value < 0.001) than in the healthy group (4.24 ± 0.27 pg/ml). Using qPCR and measuring disease severity, the relationship between cytokine gene expression and insulin resistance was assessed. The positive associations between TNF-α, IL-6, vitamin D deficiency, poor glycaemic control, and other disease conditions reflect a fundamental pathophysiological mechanism in insulin resistance in DM patients. This ultimately leads to increased inflammation and tissue damage, worsening the complications of diabetes.</p>","PeriodicalId":9040,"journal":{"name":"BMC Immunology","volume":"26 1","pages":"68"},"PeriodicalIF":2.7,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12465609/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147811","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}

{"title":"Assessment of Cytokines TNF-alpha, IFN-gamma, TGF-beta-1, and IL-10 in Malaria Patients of the River Nile State , Sudan: A critical study of immune response.","authors":"Mosab N M Hamad, Ghadeer M Albadrani, Aisha Am Ghazwani, Ammar Abdelmola, Rania S Suliman, Ghanem M Mahjaf, Shereen A Fahmy, Safaa Badi, Habab M Yassin, Gehan A Othman, Tibyan A Altaher, Sufian Km Noor","doi":"10.1186/s12865-025-00753-0","DOIUrl":"10.1186/s12865-025-00753-0","url":null,"abstract":"<p><strong>Background: </strong>Malaria, a prevalent disease in Sudan, has a significant impact on socioeconomic conditions. Cytokines play a crucial role in regulating the immune response during infectious diseases. This study investigates the interplay between malaria and immune response modulation in the River Nile State, focusing on tumor necrosis factor-alpha (TNF-α), interferon-gamma (IFN-γ), transforming growth factor-beta1 (TGF-β1), and interleukin-10 (IL-10).</p><p><strong>Method: </strong>Ninety participants with microscopy-confirmed malaria were enrolled. Parasite density and COVID-19 co-infection were assessed. Cytokine levels were measured using ELISA.</p><p><strong>Results: </strong>TNF-α, IFN-γ, and TGF-β1 levels were significantly associated with parasite density (P < 0.05), but not IL-10. TGF-β1 was significantly higher in P. vivax infections, while IL-10 was elevated in P. falciparum cases. Uric acid levels were lower in participants co-infected with COVID-19 (P < 0.05).</p><p><strong>Conclusion: </strong>The study's findings show how cytokines affect the immune response, impacting both parasite clearance. TNF-α, IFN-γ, and TGF-β1 are positively linked to parasite density (r = 0.42, 0.38, 0.51; P < 0.01). IL-10 levels were higher in P. falciparum compared to P. vivax (560.0 vs. 415.6 pg/mL, P = 0.019).</p>","PeriodicalId":9040,"journal":{"name":"BMC Immunology","volume":"26 1","pages":"69"},"PeriodicalIF":2.7,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12465133/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147800","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}

{"title":"Intervention effect of curcumin on sepsis-associated acute kidney injury via regulation of p300 expression and protein lactylation.","authors":"Mengyuan Luo, Quanmang Zhu, Guangcai Xu, Dan Liu, Jiajun Xiao, Qiqing Shi","doi":"10.1186/s12865-025-00750-3","DOIUrl":"10.1186/s12865-025-00750-3","url":null,"abstract":"<p><p>This study investigates the protective effects and underlying mechanisms of curcumin in sepsis-associated acute kidney injury (SA-AKI). Using a cecal ligation and puncture (CLP) model to simulate SA-AKI, our results demonstrate that curcumin significantly reduced serum creatinine and urea nitrogen levels, alleviated tubular damage and inflammation, improved cellular activity, and inhibited apoptosis. Further analysis revealed that curcumin inhibited the expression of p300 and decreased protein lactylation modification in renal tissue, thereby exerting anti-inflammatory and antioxidant effects. These findings suggest that curcumin may have potential therapeutic value for the prevention and treatment of SA-AKI.</p>","PeriodicalId":9040,"journal":{"name":"BMC Immunology","volume":"26 1","pages":"67"},"PeriodicalIF":2.7,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12459039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145136449","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}

{"title":"Autoimmune cytopenias in inborn errors of immunity: associations with monogenic mutations and immunologic parameters.","authors":"Ferhat Sağun, Fatih Çölkesen, Mehmet Emin Gerek, Şükran Aslan Savaş, Seçim Kolak, Emrah Harman, Şevket Arslan","doi":"10.1186/s12865-025-00752-1","DOIUrl":"10.1186/s12865-025-00752-1","url":null,"abstract":"<p><strong>Background: </strong>Autoimmune cytopenias (AICs) are among the most frequent non-infectious complications in inborn errors of immunity (IEIs) and may represent early or even initial manifestations. The genetic underpinnings of AICs in IEIs remain heterogeneous and incompletely defined.</p><p><strong>Objective: </strong>This study aimed to determine the prevalence and distribution of AICs and to investigate their associations with underlying monogenic mutations and selected immunophenotypic parameters in adult patients with IEI.</p><p><strong>Methods: </strong>A total of 121 adult IEI patients from a single tertiary immunology center were evaluated retrospectively. Clinical, immunophenotypic, and genetic data were obtained from electronic medical records. Comparisons were made between patients with and without autoimmune manifestations and AICs. Monogenic mutations were identified using targeted next-generation sequencing (NGS).</p><p><strong>Results: </strong>Autoimmune manifestations were present in 48 of 121 patients (39.6%), and autoimmune cytopenias (AICs) were identified in 33 patients (27.5%). Autoimmune hemolytic anemia (AIHA) was the most frequently observed subtype, followed by combined cytopenias and immune thrombocytopenia (ITP). The most common genetic alteration detected was a mutation in TNFRSF13B (TACI), with additional variants identified in DOCK8, RAG1, LRBA, PRF1, PSTPIP1, CECR1, PRKDC, and MRTFA. Logistic regression revealed a strong independent association between TACI mutations and ITP (OR: 46.5, p = 0.002), while no significant relationship was found with autoimmune cytopenias overall. No statistically significant differences were found in class-switched memory B cells (CD27⁺IgD⁻) percentages, CD4⁺/CD8⁺ T-cell ratios, or baseline IgG concentrations between patients with and without autoimmune manifestations or AICs.</p><p><strong>Conclusion: </strong>AICs represent a significant clinical burden in adult IEIs and may occur in association with a wide range of genetic variants. Class-switched memory B cells (CD27⁺IgD⁻) percentages, CD4⁺/CD8⁺ T-cell ratio, and baseline IgG were not significantly associated with autoimmunity in this cohort. These findings underscore the need for broader immunophenotypic and genetic screening to improve the early recognition and management of autoimmune complications in IEIs.</p>","PeriodicalId":9040,"journal":{"name":"BMC Immunology","volume":"26 1","pages":"66"},"PeriodicalIF":2.7,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12459024/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145136495","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}