Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 5 2 2022 06 22 77 82 Bijan Keikhaei Dehdezi Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Najmeh Nameh Goshay Fard Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran 2023 03 14 2023 03 14 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. 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). Methods 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. Results: 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. Conclusion: 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. https://igj.tums.ac.ir/index.php/igj/article/view/128 https://igj.tums.ac.ir/index.php/igj/article/download/128/98

Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 5 2 2022 06 22 66 68 Arash Heidari Tehran University of Medical Sciences 2023 02 27 2023 02 28 - https://igj.tums.ac.ir/index.php/igj/article/view/125 https://igj.tums.ac.ir/index.php/igj/article/download/125/96

Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 5 2 2022 06 22 69 76 Mahsima Shabani 1International Hematology/Oncology of Pediatrics Experts (IHOPE), Universal Scientific Education and Research Network (USERN), Tehran, Iran 2Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran Hanieh Mojtahedi 3Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran Maryam Sadr 3Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran Arezou Rezaei 3Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran Parivash Afradiasbagharani 3Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran Golshid Sanati 4Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran Zahra Aryan 2Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran 5Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran Farzad Kompani 6Division of Hematology and Oncology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran Nima Rezaei Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; 4 Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran 2023 02 27 2023 02 27 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. Method: 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. Results: 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. Conclusion: 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. https://igj.tums.ac.ir/index.php/igj/article/view/124 https://igj.tums.ac.ir/index.php/igj/article/download/124/102

Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 5 2 2022 06 22 83 89 Farimah Fayyaz Colorectal Research Center, Iran University of Medical Sciences, Tehran, Iran. Gholamreza Azizi Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran Marjan Vakili Department of Pediatrics, Imam Ali Hospital, Alborz University of Medical Sciences, Karaj, Iran Saeed Nikkhah Department of Pediatrics, Imam Ali Hospital, Alborz University of Medical Sciences, Karaj, Iran Yasaman Aminpour Department of Pediatrics, Imam Ali Hospital, Alborz University of Medical Sciences, Karaj, Iran Saba Alijani Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran. Mohammad Shahrooei Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium. Homa Sadri Department of Pediatrics, Imam Ali Hospital, Alborz University of Medical Sciences, Karaj, Iran 2023 01 06 2023 02 27 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. Method: 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. Results: 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. Conclusion: 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. https://igj.tums.ac.ir/index.php/igj/article/view/120 https://igj.tums.ac.ir/index.php/igj/article/download/120/100

Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 5 2 2022 06 22 90 96 Navid Roshanzamir 1. Internist, Board Certified Internal medicines, Department of Internal Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran Mahsa Erfanian Salim Pediatrician, Specialized board, Department of Pediatrics, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran 2022 12 08 2023 02 27 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. Method: 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. Results: 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. Conclusion: 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. https://igj.tums.ac.ir/index.php/igj/article/view/109 https://igj.tums.ac.ir/index.php/igj/article/download/109/101