Immunology and Genetics Journal最新文献

{"title":"The Clinical and Molecular Findings of Patients with Multisystem Inflammatory Syndrome in Children (MIS-C)","authors":"F. Fayyaz, Gholamreza Azizi, Marjan Vakili, Saeed Nikkhah, Yasaman Aminpour, Saba Alijani, Mohammad Shahrooei, H. Sadri","doi":"10.18502/igj.v5i2.15099","DOIUrl":"https://doi.org/10.18502/igj.v5i2.15099","url":null,"abstract":"Background: several children with COVID-19 disease present with fever, gastrointestinal symptoms, rash, conjunctivitis, mucosal changes, shock, and myocardial dysfunction, called multisystem inflammatory syndrome in children (MIS-C), similar to incomplete Kawasaki disease or toxic shock syndrome. The unclear pathophysiology of MIS-C prompts clinical and genetic evaluation of the patients. \u0000Method: In the present study, patients with MIS-C disease who were referred by medical specialists of Imam Ali Hospital of Alborz in 2020-2021 were included. The clinical manifestations and laboratory findings of enrolled patients were evaluated, and the genetic analysis was performed by whole exome sequencing (WES), further confirmed by Sanger sequencing. \u0000Results: Among 11 patients diagnosed with MISC, six patients (54.5%) were male, and the mean (SD) age of participants was 6.55 (±2.81) years. The most prevalent clinical presentations included fever (100%), rash (82%), bilateral non-purulent conjunctivitis (73%), and mucous membrane changes (64%). The only patient with genetic alterations was an 8-year-old boy with a homozygous missense variant of the ATP6AP1 gene and a heterozygous likely pathogenic canonical splice site variant of the M1B1 gene. \u0000Conclusion: Although the young age of patients with MIS-C and their autoinflammatory presentations are similar to patients with inborn errors of immunity, the results indicate that most patients with MIS-C do not have genetic mutations.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"30 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140252273","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Methylation Status of SOCS1 and SOCS3 Genes in Patients with Acute Lymphoid Leukemia","authors":"Mahsima Shabani, Hanieh Mojtahedi, M. Sadr, A. Rezaei, Parivash Afradiasbagharani, G. Sanati, Z. Aryan, F. Kompani, Nima Rezaei","doi":"10.18502/igj.v5i2.15097","DOIUrl":"https://doi.org/10.18502/igj.v5i2.15097","url":null,"abstract":"Background: Acute Lymphoid Leukemia (ALL) is the leading childhood cancer with a high mortality and morbidity. Studies have suggested an association of epigenetic transformations with prognosis, recurrence and immunophenotypes of ALL. SOCS1 and SOCS3 are tumor suppressors inhibiting JAK/STAT signaling pathway and the resultant aberrant cell proliferation. \u0000Method: We aimed to assess the association between methylation status and ALL, using bone marrow and peripheral blood samples. 18 patients with ALL and 13 children with no malignancies were included. Using Bisulfite conversion, quantitative multiplex methylation-specific PCR and 2^(-∆∆Ct) formula, the methylated DNA in the promoters of SOCS1 and SOCS3 were measured. \u0000Results: ALL patients had higher mean methylation in SOCS1 promoter and lower mean methylation in SOCS3 promoter, compared to the control group. However, neither of these mean differences were statistically significant. \u0000Conclusion: This finding can set the foundation for further large-sample studies with the use of healthy children as a control group to strengthen the hypothetical association of the methylation status of SOCS1 and SOCS3 with ALL.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"92 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140254553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of Diabetic Retinopathy in Diabetic Patients Referred to Mashhad Parsian Diabetes Center, Iran","authors":"Navid Roshanzamir, Mahsa Erfanian Salim","doi":"10.18502/igj.v5i2.15100","DOIUrl":"https://doi.org/10.18502/igj.v5i2.15100","url":null,"abstract":"Background: Diabetes is a common disease that leads to chronic complications such as neuropathy, nephropathy, vascular diseases, and retinopathy. Diabetic retinopathy is an eye condition that can cause vision loss and blindness in diabetic patients. The aim of this study is to describe the prevalence of diabetic retinopathy in diabetic patients. \u0000Method: In this descriptive-cross-sectional study, 550 patients with diabetes referring to the diabetes centers in Mashhad Parsian Diabetes Center, Iran were enrolled. All patients were assessed for the presence of diabetic retinopathy by direct or indirect ophthalmoscopy. A standardized protocol was used to grade diabetic retinopathy. Two groups of diabetic patients with and without retinopathy were compared in terms of body mass index (BMI), gender, disease duration and type of diabetes, history of blood pressure, history of blood lipids, hemoglobin AIC and albumin. \u0000Results: The prevalence of diabetic retinopathy among 550 diabetic patients was 23.4% (129 patients). Age, duration of diabetic disease, history of high blood pressure, history of high blood lipids, type 2 diabetes and urine albumin were significantly different between the diabetic patients with and without retinopathy, while no significant difference was observed between the two groups in terms of gender, BMI, smoking, and hemoglobin A1C level. \u0000Conclusion: Due to the high prevalence of DR in diabetic patients, it is recommended that retinal examination should always be considered in the evaluation of diabetic patients.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"52 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140253249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Potential Implication of Immunogenetics in Cancer and Autoimmunity","authors":"Arash Heidari","doi":"10.18502/igj.v5i2.15095","DOIUrl":"https://doi.org/10.18502/igj.v5i2.15095","url":null,"abstract":"\u0000 \u0000 \u0000 \u0000 \u0000 \u0000 \u0000 \u0000 \u0000 \u0000 \u0000The Article Abstract is not available. \u0000 \u0000 \u0000 \u0000 \u0000 \u0000 \u0000 \u0000 \u0000  \u0000 \u0000 \u0000 \u0000 \u0000 \u0000 \u0000  \u0000","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140253617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Blood Indices of the Patients with β-Thalassemia Minor Compared to the Patients with β-Thalassemia Minor-Alpha-Thalassemia","authors":"Bijan Keikhaei Dehdezi, Najmeh Namehgoshay Fard","doi":"10.18502/igj.v5i2.15098","DOIUrl":"https://doi.org/10.18502/igj.v5i2.15098","url":null,"abstract":"Objective: Thalassemia, as one of the most common genetic diseases, is a group of hereditary hemoglobin disorders due to a slight disturbance in the production of alpha and beta globin chains in the structure of hemoglobin occurs. There are still no clear criteria for differentiating thalassemia types based on hematological findings. In the current study, we aimed to evaluate the low-grade beta-thalassemia (β-thalassemia) indices in comparison with β-thalassemia minor with alpha-thalassemia (α-thalassemia). \u0000Methods and materials: In this descriptive-analytic study, 120 patients were enrolled, including 80 patients with minor β-thalassemia and 40 patients with minor β-thalassemia with α-thalassemia. Of all patients, 5cc blood samples were taken. The red blood cell parameters including mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), and hemoglobin were determined. The level of MCV> 80 and A2> 3.5 β-thalassemia minor and MCV <80 and A2 <3.5 were considered as elevated thalassemia or iron deficiency anemia. \u0000Results: The results showed that the mean of hemoglobin, HCT, MCH, MCHC, and MCV in the β-thalassemia group was significantly lower than that of the β-thalassemia with α-thalassemia group (P <0.0001). On the other hand, the level of these indices in the control group was significantly higher than in the two groups of patients (P<0.0001). The results showed that the percentage of hemoglobin A2 in the β-alpha-thalassemia group was 4.5 ± 0.91, significantly higher than the β-thalassemia group. The rate of hemoglobin and MCV was significantly lower in the β-thalassemia group compared to the silent and trait β+αthalassemia group. Also, the rate of hematocrit was significantly lower in the β-thalassemia group compared to the trait, although had no significant difference with the silence group. \u0000Conclusion: Based on our findings, despite the difference between some hematocrit indices in the patients with β-thalassemia and β-αthalassemia, these indices cannot be used as differential indices.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"50 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140252095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Story of Omicron: People, Scientists, and Global Communities","authors":"Shayan Rahmani, S. A. Nejadghaderi","doi":"10.18502/igj.v5i1.14069","DOIUrl":"https://doi.org/10.18502/igj.v5i1.14069","url":null,"abstract":"The Article Abstract is not available.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"51 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139261034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reviewing the Main Cancer Therapies: Virotherapy Has a High Potential for Cancer Treatment","authors":"Amirhossein Rismanbaf","doi":"10.18502/igj.v5i1.14065","DOIUrl":"https://doi.org/10.18502/igj.v5i1.14065","url":null,"abstract":"In 2020, around 10 million deaths worldwide were attributed to cancer, making it one of the leading causes of mortality globally. On the other hand, a lot of money, time, and energy is spent on the treatment process of this disease. In fact, cancer is a big challenge that we have been facing for years, but there is still no method that can definitively cure this disease. For years, we have mainly used surgery, chemotherapy, and radiation therapy to treat cancer. Although many advances have been made in these methods, these methods are not a definitive cure for all types of cancer and also have many complications and impose high costs on patients. By virtue of the remarkable effectiveness of CAR-T cell therapy in the treatment of leukemia, hopes for effective treatment for various types of cancer increased, but by testing this method in solid tumors, it was found that this method has low efficiency in solid tumors. In this review article, I consider the challenges and mechanisms that cancer cells apply to resist different main therapies, and finally, by comparing the challenges of different therapies, I conclude that virus therapy has a higher potential than other methods to end the problem of cancer and become a definitive cure for cancer.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139262266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association Of PTPN22 Gene Polymorphisms in Patients with Graves’ Disease in Iranian Papulation","authors":"M. Sadr, Samira Esmaeili, Somayeh Amirzargar, A. Rezaei, Bahareh Mohebbi, Mina Abrari, Parivash Afradiasbagharani, Nima Rezaei, A. A. Amirzargar","doi":"10.18502/igj.v5i1.14068","DOIUrl":"https://doi.org/10.18502/igj.v5i1.14068","url":null,"abstract":"Background: Graves’ disease (GD) is an autoimmune disease that is associated with increased thyroid gland irritation and, consequently, hyperthyroidism. Autoimmune diseases are common in the general population and are influenced by genetic and environmental factors. PTPN22, which was reported as a susceptible locus for GD in several populations, acts as a negative regulator for activation of primary T-cells, and LYP polymorphism could potentially increase susceptibility to Graves' disease, which may play a role in other autoimmune conditions as well. In this study, we investigated the association of several PTPN22 single nucleotide polymorphisms (SNPs) with Graves patients. Methods: After DNA extraction from peripheral blood cells, SNP Genotyping was performed through real-time PCR with allelic discrimination TaqMan genotyping assays (ABI Applied Biosystems, 7300 Real-Time PCR System, USA) based on manufacturer protocols. The frequencies of alleles and genotypes of PTPN22 SNPs (rs12760457, rs2476601, rs1310182, and rs1217414) were recorded. Results: In our study, the rs1310182 was significantly more frequent in patients with GD than in healthy individuals. While the C allele of rs1310182 was 1.78 times more frequent in GD patients (95%CI: 1.18- 2.69, P=0.005), the T allele was more frequent in healthy subjects (OR=0.56, 95% CI: 0.37-0.84, P=0.005). In addition, the CC genotype of this SNP was 1.86 times more common in patients (P=0.05). No significant differences were observed between the other SNPs of this gene in case and control. Conclusion: The results demonstrate that one SNP (rs1310182) of the PTPN22 gene is associated with susceptibility to GD in an Iranian population. Further studies, including functional analyses, are required.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"53 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139262340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pyogenic Arthritis, Pyoderma Gangrenosum and Acne (PAPA) and PAPA-Like Syndromes: Systematic Review of the Literature","authors":"Amir Hossein Hajialigol, M. Jamee, Sharareh Kamfar, Niusha Sharifinejad, Soheil Ashouri, Seyed Yasin Tabatabaeimehr, Afsaneh Soltani, S. Mahdaviani, A. Velayati","doi":"10.18502/igj.v5i1.14066","DOIUrl":"https://doi.org/10.18502/igj.v5i1.14066","url":null,"abstract":"Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant autoinflammatory disorder caused by mutations in the PSTPIP1/CD2BP1 gene. We systematically reviewed 93 patients with PAPA and PAPA-like syndrome. Most patients were male (65.9%) mainly born to non-consanguineous parents. The median (IQR) age at the onset of symptoms and diagnosis was 6.0 (2.0- 8.0) and 25.0 (7.0-32.0) years, respectively. 62.5% of patients were presented with arthropathies and septic arthritis was the most common (54.2%) initial diagnosis. Joint disorders were the most common findings (n=71, 78.9%) starting at the median (IQR) age of 4.0 (2.0-8.0) years, mainly in the knee (56.5%), ankle (36.9%), and elbow (47.8%). Skin involvement (62 (66.7%)) initially presented at a median (IQR) age of 12.0 (20.-10.0) years and included pyoderma gangrenosum (n=41, 44.1%), acne (n=43, 46.2%), and nodulocystic acne (n=19, 20.4%). There was a stronger association between skin manifestations and the development of the classic triad (P<0.001) compared to joint disorders (P=0.05) and patients with lower age of onset were more prone to the progression of the complete triad (P=0.18). Corticosteroids (n=45, 50.0%) with or without anakinra (33.3%) were the treatments applied in the majority of patients. PAPA/PAPA-like syndromes involve mainly non-axial joints in early childhood and later skin in the second decade of life. Only 26.4% of the patients manifested the classical triad of PAPA syndrome. There is no clear genotype-phenotype association in these disorders. More studies are required to investigate the therapeutic options in PAPA/PAPA-like syndromes.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"57 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139262373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetics of Aberrant Immune Responses During Tumor Progression Among Iranian Population","authors":"Iman Akhlaghipour, Matin Moloudian, Zahra Basirat, Negin Taghehchian, M. Gachpazan, M. Moghbeli","doi":"10.18502/igj.v5i1.14067","DOIUrl":"https://doi.org/10.18502/igj.v5i1.14067","url":null,"abstract":"The immune system has a critical tumor suppressor function via the detection and elimination of the tumor cells. Tumor cells' immune escaping is commonly observed during neoplastic transformations. Immune response suppression or aberrations facilitate immune escape that promotes tumor progression in distant or primary locations via epithelial-mesenchymal transition and angiogenesis, respectively. It has been reported that there is a rising trend of cancer incidence among the Iranian population. Since aberrant immune responses are involved in tumorigenesis; immunotherapeutic methods can be efficient for tumor cell elimination. In the present review, we discussed all of the immune-related genes that have been associated with tumor progression among the Iranian population to clarify the genetics of immune deficiency during tumor progression in this population. T regulatory and T helper related genes were the most frequently deregulated genes during tumor progression in the Iranian population. This review paves the way to suggest an immune-specific panel of genetic markers for diagnostic and immunotherapeutic purposes among Iranian cancer patients.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"35 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139262087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}