Immunology and Genetics Journal

The Potential Implication of Immunogenetics in Cancer and Autoimmunity

Arash Heidari — Mon, 11 Mar 2024 08:50:49 +0000

The Article Abstract is not available.

Methylation Status of SOCS1 and SOCS3 Genes in Patients with Acute Lymphoid Leukemia

Mon, 11 Mar 2024 08:56:46 +0000

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.

Blood Indices of the Patients with β-Thalassemia Minor Compared to the Patients with β-Thalassemia Minor-Alpha-Thalassemia

Bijan Keikhaei Dehdezi, Najmeh Namehgoshay Fard — Mon, 11 Mar 2024 08:59:44 +0000

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).

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.

The Clinical and Molecular Findings of Patients with Multisystem Inflammatory Syndrome in Children (MIS-C)

Mon, 11 Mar 2024 09:04:51 +0000

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.

Prevalence of Diabetic Retinopathy in Diabetic Patients Referred to Mashhad Parsian Diabetes Center, Iran

Navid Roshanzamir, Mahsa Erfanian Salim — Mon, 11 Mar 2024 09:16:54 +0000

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.