Iranian Journal of Immunology最新文献

{"title":"Toll-like Receptor 2 Signaling Abnormalities Are Associated with Clinical Manifestations in Common Variable Immunodeficiency.","authors":"Hassan Abolhassani, Nima Rezaei, Reza Yazdani, Somaye Aletaha, Saied Bokaie, Laleh Sharifi, Abbas Mirshafiey","doi":"10.22034/iji.2025.104276.2893","DOIUrl":"https://doi.org/10.22034/iji.2025.104276.2893","url":null,"abstract":"<p><strong>Background: </strong>Common variable immunodeficiency (CVID) is an inborn error of immunity characterized by a defect in terminal B cell differentiation, resulting in hypogammaglobulinemia and impaired production of specific antibodies. Stimulation via Toll-like receptors (TLRs) has been shown to promote the differentiation and functional maturation of late-stage B cells.</p><p><strong>Objective: </strong>To assess aberrations in TLR2 signaling among patients with CVID and to explore their associations with clinical manifestations and immunological parameters.</p><p><strong>Methods: </strong>Sixteen CVID patients and 16 healthy controls were recruited for this individual-matched case-control study. Genetic variants in patients had been previously identified through whole-exome sequencing. TLR2 and TLR4 downstream gene expression were analyzed using qRT-PCR, while cytokine levels were measured by enzyme-linked immunosorbent assay (ELISA). Statistical associations between clinical features and laboratory parameters were analyzed using SPSS software.</p><p><strong>Results: </strong>Downstream gene expression following TLR2 stimulation was significantly reduced in 25% of CVID patients, while the TLR4 signaling pathway remained largely unaffected. Patients exhibiting TLR2 overexpression demonstrated a later disease onset, presenting with autoimmunity, lymphoproliferation, and atopic manifestations. A consistent immunologic feature among patients with defective TLR2 signaling was the reduction in marginal zone and switched memory B cell populations. Furthermore, Levels of IL-6 and IL-1β following agonist stimulation were significantly lower in CVID patients compared to healthy controls.</p><p><strong>Conclusion: </strong>This study demonstrates that functional impairment of TLR2 signaling influences the clinical presentation, immunologic profile, and cytokine production in patients with CVID. These findings suggest a potential underlying etiology in a subset of patients with unidentified monogenic defects.</p>","PeriodicalId":54921,"journal":{"name":"Iranian Journal of Immunology","volume":"22 3","pages":"5"},"PeriodicalIF":1.1,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193811","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}

{"title":"Serum ACE2 and Anti-MMR Antibody Profiles in Pediatric Patients with and without SARS-CoV-2 Infection.","authors":"Zohre Labbani-Motlagh, Zohreh Nozarian, Mohammad Taghi Haghi Ashtiani, Sajjadeh Movahedinia, Mohammad Vasei, Negin Hosseini Rouzbahani","doi":"10.22034/iji.2025.104055.2879","DOIUrl":"https://doi.org/10.22034/iji.2025.104055.2879","url":null,"abstract":"<p><strong>Background: </strong>Coronavirus Disease 2019 (COVID-19) typically manifests with milder symptoms and lower mortality rates in children when compared to adults.</p><p><strong>Objective: </strong>To investigate potential mechanisms underlying this age-related protection, we examined whether serum levels of angiotensin-converting enzyme 2 (ACE2) and IgG antibody titers against Measles, Mumps, and Rubella (MMR) vaccines are associated with susceptibility to SARS-CoV-2 infection in the pediatric population.</p><p><strong>Methods: </strong>In this case-control study, conducted before the introduction of mass COVID-19 vaccination, we enrolled children aged 1-15 years. The cases were hospitalized children with confirmed COVID-19, while the control group consisted of outpatients with non-infectious, non-immunodeficient conditions and no documented history of COVID-19. The COVID-19 status was confirmed using RT-PCR. Serum levels of ACE2 and anti-MMR IgG antibodies were assessed using ELISA.</p><p><strong>Results: </strong>Eighty-three patients including 39 cases with COVID-19 infection and 44 controls were enrolled in this study. The median serum ACE2 levels were 3.6 in COVID-19 cases and 3.8 ng/mL in control cases (P=0.440). Similarly, antibody levels against Mumps (P=0.788), Measles (P=0.281), and Rubella (P=0.083) did not differ significantly between the groups, although Rubella seropositivity was more frequent in COVID-19 cases than in controls (P=0.039).</p><p><strong>Conclusion: </strong>Our findings did not support a significant association between serum ACE2 levels or MMR antibody titers and protection against COVID-19 in children. The higher prevalence of Rubella seropositivity among infected cases may suggest possible cross-reactivity, but causal relationships could not be established in this study.</p>","PeriodicalId":54921,"journal":{"name":"Iranian Journal of Immunology","volume":"22 3","pages":"7"},"PeriodicalIF":1.1,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193553","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}

{"title":"Influence of the Chemotherapeutic Agent Mitomycin C on In Vitro Dendritic Cell Maturation and Interleukin-12 Production in a Colorectal Cancer Model.","authors":"Trefa Mohammed Abdullah","doi":"10.22034/iji.2025.106532.3008","DOIUrl":"https://doi.org/10.22034/iji.2025.106532.3008","url":null,"abstract":"<p><strong>Background: </strong>Antitumor-targeting drugs can stimulate dendritic cells (DCs) indirectly through the shedding of dying tumor cells as part of what is referred to as a \"danger signal\". Although chemotherapeutic agents have been shown to kill dendritic cells (DCs), the effects of low, non-cytotoxic doses on DC function have not been studied.</p><p><strong>Objective: </strong>To investigate the impact of various concentrations of mitomycin C at low, non-cytotoxic doses on the maturation of DCs.</p><p><strong>Methods: </strong>THP-1 monocytes were differentiated into immature dendritic cells using IL-4 and GM-CSF. HCT116 colorectal cancer cells were treated with mitomycin C at concentrations ranging from 10 to 80 nM and co-cultured with undifferentiated dendritic cells. The expression of co-stimulatory molecules (CD11c, CD80, CD83, CD86, HLA-DR, CD14) and IL-12p70 secretion were measured.</p><p><strong>Results: </strong>Different dosages of Mitomycin C-treated HCT116 cells enhanced the maturation of dendritic cell markers (CD80, CD83, CD86, HLA-DR), but reduced CD14 levels (p< 0.01). While increasing the Mitomycin C dose to 80 nM further upregulated HLA-DR and CD86 expression, the release of IL-12 was highest a 50 nM concentration of mitomycin C (686.7 ± 125.7 pg/mL compared to 263.8 ± 4.8 pg/mL in controls; p < 0.05). IL-12 levels were not significantly increased even with 30 nM Mitomycin C.</p><p><strong>Conclusion: </strong>Low concentrations of Mitomycin C contributed to an increase in dendritic cellmaturation and an increase in the expression of co-stimulatory molecules (CD80, CD86, CD83, and HLA-DR), along with the secretion of cytokines such as IL-12p70, IL-2, and GM-CSF.</p>","PeriodicalId":54921,"journal":{"name":"Iranian Journal of Immunology","volume":"22 3","pages":"4"},"PeriodicalIF":1.1,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193521","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}

{"title":"Therapeutic Potential of an Anti-PLAC1 Antibody-Drug Conjugate in a Mouse Model of Human Breast Cancer.","authors":"Jafar Mahmoudian, Roya Ghods, Mahmood Jeddi-Tehrani, Nassim Ghaffari-Tabrizi-Wizsy, Mohammad Reza Nejadmoghaddam, Ramin Ghahremanzadeh, Seyed Nasser Ostad, Amir-Hassan Zarnani","doi":"10.22034/iji.2025.106670.3019","DOIUrl":"https://doi.org/10.22034/iji.2025.106670.3019","url":null,"abstract":"","PeriodicalId":54921,"journal":{"name":"Iranian Journal of Immunology","volume":"22 3","pages":"2"},"PeriodicalIF":1.1,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193524","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}

{"title":"Elevated Serum Levels of CTRP-6 and Asprosin in Systemic Lupus Erythematosus: Association with Oxidative Stress Markers and Clinical Manifestations.","authors":"Ali Hussein Hadi Nassar Al-Tamimi, Nadia Heydari, Saeed Mohammadi, Nafiseh Abdolahi, Seyyed Mehdi Jafari","doi":"10.22034/iji.2025.105623.2961","DOIUrl":"https://doi.org/10.22034/iji.2025.105623.2961","url":null,"abstract":"<p><strong>Background: </strong>Systemic Lupus Erythematosus (SLE) is a chronic inflammatory disease that affects multiple organ systems. The resulting inflammation disrupts adipocyte metabolism, thereby altering the levels of adipokines.</p><p><strong>Objective: </strong>To assess e serum levels of Asprosin and CTRP-6 as novel adipokines in SLE patients compared to controls, and their association with lipid profiles, oxidative stress markers, and clinical parameters.</p><p><strong>Methods: </strong>This case-control study involved 41 SLE patients and 41 healthy controls. Serum CTRP-6 and Asprosin levels were measured using ELISA, while total antioxidant capacity (TAC) and malondialdehyde levels were measured using a colorimetric assay.</p><p><strong>Results: </strong>The mean serum CTRP-6 level was significantly higher in individuals with SLE (1.08±0.32) compared to healthy subjects (0.82 0.21; P<0.001). Similarly, the serum level of Asprosin was elevated in patients with SLE (11.91 ± 3.09) compared to the control group (10.28 ± 2.09; P < 0.001). In contrast, the TAC level was lower in subjects with SLE than in healthy controls (0.18±0.23, 0.19 0.51 respectively; p<0.001). Additionally, the serum level of Asprosin was significantly reduced in SLE patients with nephritis (10.17 ± 3.55) compared to those without nephritis (12.4 ± 2.75; p = 0.005).</p><p><strong>Conclusion: </strong>Elevated levels of Asprosin and CTRP-6 suggest a potential role for these adipokines in SLE pathogenesis. Moreover, the presence of nephritis in SLE patients was associated with reduced plasma levels of Asprosin.</p>","PeriodicalId":54921,"journal":{"name":"Iranian Journal of Immunology","volume":"22 3","pages":"8"},"PeriodicalIF":1.1,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193058","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}

{"title":"Bioinformatic Analysis and Recombinant Expression of the Stonustoxin β-Subunit for Polyclonal Antibody Development.","authors":"Mohammadreza Rahmani, Shahram Nazarian, Hossein Samiei-Abianeh, Seyed Mojtaba Aghaie, Davoud Sadeghi","doi":"10.22034/iji.2025.106646.3017","DOIUrl":"https://doi.org/10.22034/iji.2025.106646.3017","url":null,"abstract":"<p><strong>Background: </strong>Stonefish (Synanceia spp.) are among the most venomous marine organisms. Their venom contains stonustoxin (SNTX), a heterodimeric toxin that induces severe hemolytic and myotoxic effects primarily mediated by its β-subunit.</p><p><strong>Objective: </strong>To produce a recombinant SNTX β-subunit and develop neutralizing polyclonal antibodies against SNTX.</p><p><strong>Methods: </strong>A DNA cassette encoding immunogenic regions of the β-sntx was designed using bioinformatics analysis, and codon-optimized for expression in E. coli. The construct was cloned into pET17b vector, and expressed in E. coli BL21 (DE3). The recombinant protein was purified via Ni-NTA affinity chromatography. For antibody production, rabbits were immunized subcutaneously with the recombinant protein emulsified in Freund's complete adjuvant, followed by booster doses at 2-week intervals. Antiserum was purified using protein G chromatography, and antibody titers were assessed by indirect Enzyme-Linked Immunosorbent Assay (ELISA).</p><p><strong>Results: </strong>Epitope mapping revealed key immunogenic regions within residues 124-654 of the β-SNTX subunit. Following codon optimization, the codon adaptation index (CAI) increased to 0.93. Recombinant protein production was confirmed by SDS-PAGE and Western blot demonstrating successful purification of a 73 kDa recombinant protein (including TRX/His-tags), with a yield of 40 mg/L. Immunization of rabbits elicited a strong polyclonal IgG response, with antibody titers reaching 1:25,600 following the third booster. Purified IgG (1.8 mg/mL) exhibited high sensitivity in ELISA, detecting the recombinant β-SNTX at concentrations as low as 31.25 ng.</p><p><strong>Conclusion: </strong>The recombinant β-SNTX subunit demonstrated strong immunogenicity, inducing high-affinity antibodies with specific binding activity against the native toxin. The resulting antiserum demonstrated significant neutralization potential, highlighting its promise for antivenom development.</p>","PeriodicalId":54921,"journal":{"name":"Iranian Journal of Immunology","volume":"22 3","pages":"6"},"PeriodicalIF":1.1,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193975","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}

{"title":"Immunogenicity of a Recombinant Subunit Vaccine Against Feline Coronavirus: A Comparative Study of Three Different Adjuvants.","authors":"Bo Dong, Wenqian Hu, Shuo Zhang, Xiaodong Zhang, Weijie Zou, Yina Guo, Weiming Lin","doi":"10.22034/iji.2025.105028.2927","DOIUrl":"https://doi.org/10.22034/iji.2025.105028.2927","url":null,"abstract":"<p><strong>Background: </strong>Currently, there is no effective vaccine against feline coronavirus infections. The coronavirus Spike (S) protein plays a critical role in viral binding to cell receptors and contains multiple neutralizing antibody epitopes that trigger the host's immune response to combat infection. Selecting an optimized adjuvant is essential to ensure robust vaccine-induced immunity against pathogenic infections.</p><p><strong>Objective: </strong>To produce a recombinant S protein for the development of subunit vaccines and evaluate the immune responses elicited by different adjuvants.</p><p><strong>Methods: </strong>In this study, we developed three subunit vaccines incorporating distinct adjuvants: Alh, ISA201, and CFA FCoV-SP. BALB/c mice were immunized three times via subcutaneous injections with each vaccine formulation. Serum samples were then analyzed to evaluate S protein-specific IgG levels and cytokine concentrations using enzyme-linked immunosorbent assay (ELISA), assessing the magnitude and nature of the vaccine-induced immune responses.</p><p><strong>Results: </strong>The ISA201 FCoV-SP vaccine induced significantly higher total IgG levels than those in the Alh or CFA groups. All tested protein concentrations resulted in increased serum IgG antibody levels, with the optimal immune dose of recombinant S protein being 15 µg/dose. Additionally, the ISA201 FCoV-SP vaccine led to increased expression of interferon-γ, interleukin-8, and tumor necrosis factor-α.</p><p><strong>Conclusion: </strong>Collectively, our findings suggest that ISA201 serves as the most effective adjuvant for a recombinant S protein subunit vaccine against FCoV. Additionally, the subunit vaccine developed in this study exhibited acceptable immune responses in mice.</p>","PeriodicalId":54921,"journal":{"name":"Iranian Journal of Immunology","volume":"22 3","pages":"3"},"PeriodicalIF":1.1,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193275","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}

{"title":"The Dual Role of Transforming Growth Factor-Beta (TGF-β) Signaling: Balancing Cellular Senescence and Tumor Progression for Precision Therapeutics.","authors":"Junhua Liao, Tang Zhu, Jie Wu, Mingyu Huang, Xianxian Luo","doi":"10.22034/iji.2025.105337.2939","DOIUrl":"https://doi.org/10.22034/iji.2025.105337.2939","url":null,"abstract":"<p><p>Transforming growth factor-β (TGF-β) signaling plays a complex and dual role in regulating cellular senescence and tumor progression. In normal tissues, TGF-β acts as a tumor suppressor by regulating the cell cycle, inducing apoptosis, and maintaining the integrity of the extracellular matrix (ECM). These functions collectively restrict tumor initiation and support tissue homeostasis. However, in the tumor microenvironment, sustained TGF-β signaling frequently switches to a tumor-promoting role, driving tumor cell proliferation, metastatic dissemination, immune evasion, and therapy resistance. This review aims to clarify the dual role of TGF-β signaling in cellular senescence and tumor progression. It focuses on the molecular mechanisms that drive its transition between tumor suppression and tumor promotion in various biological contexts. We analyze the key determinants governing this functional switch, including tumor type, cellular environment, and signaling crosstalk. Furthermore, we critically evaluate the clinical challenges of therapeutic TGF-β targeting. We highlight emerging strategies to therapeutically modulate TGF-β signaling, focusing on precision medicine approaches that reconcile its tumor-suppressive and oncogenic functions. By providing a comprehensive understanding of TGF-β's dual role, this review offers new insights that may guide personalized cancer therapies and optimize treatment strategies for improved clinical outcomes.</p>","PeriodicalId":54921,"journal":{"name":"Iranian Journal of Immunology","volume":"22 3","pages":"1"},"PeriodicalIF":1.1,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145193542","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}

{"title":"Extracellular Vesicles from miR-146a Overexpressing Mesenchymal Stem Cells Attenuate ‎Imiquimod-Induced Psoriasis by Regulating Cytokine Expression.","authors":"Hongmei Shao, Junjie Chen","doi":"10.22034/iji.2025.104576.2909","DOIUrl":"10.22034/iji.2025.104576.2909","url":null,"abstract":"<p><strong>Background: </strong>Psoriasis is a chronic inflammatory skin disorder characterized by elevated levels of proinflammatory cytokines. Mesenchymal stem cells (MSCs) have demonstrated therapeutic potential, yet the specific mechanisms involved are not fully understood.</p><p><strong>Objective: </strong>To investigated the effectiveness of extracellular vesicles (EVs) derived from MSCs that were genetically modified to overexpress miR-146a, in a mouse model of psoriasis.</p><p><strong>Methods: </strong>To enhance miR-146a expression, MSCs were transfected, and their EVs were subsequently purified. Thirty mice were randomly assigned to three groups and induced with imiquimod cream to develop psoriasis-like skin lesions. The treatment groups included: (1) a control group administered PBS, (2) a group treated with EVs containing a control miRNA (miR-control EVs), and (3) a group receiving EVs enriched with miR-146a (miR-146a-EVs). EVs were administered intravenously and lesions were evaluated. Following intravenous administration of EVs, the severity of skin lesions was assessed. Concentrations of key cytokines, including IFN-γ, IL-17, TNF-α, IL-23, IL-6, IL-1β, TGF-β, IL-10, and IL-4, were quantified in both spleen and skin tissue lysates using ELISA and qRT-PCR techniques.</p><p><strong>Results: </strong>The experimental findings demonstrated that the administration of miR-146a-enriched EVs led to a significant improvement in clinical symptoms. There were substantial reductions observed in combined erythema, scaling, and skin thickness measurements compared to untreated controls. Additionally, levels of proinflammatory cytokines IFN-γ, IL-17, TNF-α, IL-23, IL-6, and IL-1β were significantly downregulated in the miR-146a-EV group, while anti-inflammatory TGF-β, IL-10 and IL-4 were upregulated. The same results were obtained in the spleens of mice.</p><p><strong>Conclusion: </strong>EVs derived from miR-146a-modified MSCs effectively reduced psoriasis-like inflammation by modulating cytokine expression. This novel cell-free therapy holds promise for the treatment of psoriasis.</p>","PeriodicalId":54921,"journal":{"name":"Iranian Journal of Immunology","volume":"22 2","pages":"119-130"},"PeriodicalIF":1.1,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369595","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}

{"title":"A Novel Homozygous CGA > TGA Mutation at Codon 123 (Exon 6) of B-Linker Protein (BLNK) as a Potential Cause of ‎Hepatopathy and Rickets: A Case Report.","authors":"Hulya Kose, Yasin Karali, Sara Sebnem Kilic","doi":"10.22034/iji.2025.104102.2882","DOIUrl":"10.22034/iji.2025.104102.2882","url":null,"abstract":"<p><p>BLNK deficiency is a subtype of autosomal recessive immune disorders that involves a lack of B cells, agammaglobulinemia, and recurrent infections. We present the case of a 29-year-old Turkish female with BLNK deficiency caused by a novel homozygous CGA > TGA mutation at codon 123 (exon 6) in the BLNK gene. She developed severe liver failure and rickets at the age of 12. Although BLNK mutations are a rare cause of agammaglobulinemia, it is important to consider them in patients with B-cell deficiency and non-immune involvement.</p>","PeriodicalId":54921,"journal":{"name":"Iranian Journal of Immunology","volume":"22 2","pages":"165-171"},"PeriodicalIF":1.1,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369594","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}