Immunology and Genetics Journal is the official journal of the Research Center For Immunodeficiencies, Tehran University of Medical Sciences. The journal is a Quarterly peer-reviewed, Open Access journal, publishing high quality scientific (basic and translational) and clinical-epidemiological papers on a wide range of pediatric and adult genetics and immunological topics, including Clinical Genetics, Clinical Immunology, Infection and Immunity, Autoimmunity, Immunobiology, Immunogenetics, Immunohematology, Immunopathology, Transplantation, and Cancer immunology.
This journal, which is supported by Universal Scientific Education and Research Network, publishes original articles, review articles, short communications, letters to the editors, clinical trials, systematic review and meta-analysis, and case reports. The quality and originality of the research are the most important criteria for acceptance. Immunology and Genetics Journal attempts to ensure a quick publication of all manuscripts while preserving the highest quality of contents.
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Both innate and adaptive arms of immune system play role in tumor development. Moreover, genetic and epigenetic alterations, widely demonstrated in cancer cells, result in disturbances in molecular pathways regulating cell growth, survival, and metastasis. Knowledge of molecular and cellular mechanisms involved in carcinogenesis leads to improvement of targeted treatments for cancers. Similarly, allergies are immune related entities and are treated according to the molecular mechanisms of hypersensitivity reactions. Some studies support the hypothesis of inverse association between cancer and susceptibility for allergies but the correlation is not simple and some demonstrate positive relation. For example, in some studies histamine released in response to allergens plays a role in tumor progression, probably through maintaining survival of myeloid derived suppressor cells (MDSCs). However, in other studies, the protective role of IgE against carcinogenesis have been reported. In this review, the role of immune system and specific molecular mechanisms in cancer and allergy will be discussed. Based on separately mentioned factors, interactions between these two seemingly disparate entities will also be presented. We conducted this review to illustrate potential molecular and cellular mechanisms underlying the association of cancer and allergy and make a basis for future interventions.
Background and Objective: Inflammatory bowel disease, including Crohn's disease and ulcerative colitis is a complex multifactorial disease which the exact cause is not clear. This study evaluates interleukin 23 receptor gene polymorphisms in patients with inflammatory bowel disease.
Subjects and Methods: In this case-control study. We evaluated 125 patients of Iranian population (Khuzestan) with inflammatory bowel disease including 35 patients with Crohn's disease and 90 patients with ulcerative colitis and 125 healthy controls. The polymorphisms of C/A-97952(rs10889677), G/A-43045 (rs1004819) were genotyped, using ARMS-PCR and G/A-78790 (rs11209026) using RFLP-PCR methods in the studied population. The collected data were analyzed using SPSS software.
RESULTS: In this study, no significant association was observed between IL23R polymorphisms and inflammatory bowel disease in this population, however association between C/A-97952 AA genotype and penetrating into the tissue (P = 0.048 OR=2.812 (1.23-6.44) , G/A-43045, AA genotype and Ileocolic(OR=5 (1.071-31) P = 0.031). and G/A-43045 AA genotype and Pan Colitis (P=0.028 OR=4 (1.082-17.00)) in inflammatory bowel disease were strengthen and emphasized.
Conclusion: The present study showed that there were no associations between IL23R polymorphisms and CD and UC in Khuzestan population. In addition we found that C/A-97952 and G/A-43045 gene polymorphisms in IL-23R are related to special phenotypes. Further functional analysis with larger sample size and other known IL-23 receptor genotypes is necessary to confirm any association with UC and CD in our population
Background and Aims: Ulcerative colitis (UC) is an idiopathic chronic inflammatory disease of the colon with evidence addressing the role of epigenetic changes. The intention of this study was to detect the association of DNA methylation levels of NOD2 gene with UC and to evaluate whether any of these changes might be a useful biomarker for detecting patients with UC.
Methods: The methylation status of the promoter CpG islands (CGIs) of NOD2 gene was examined in the colonic mucosae of 15 cancer-free patients with UC and 15 age- and sex-matched healthy controls by the real-time quantitative multiplex-methylation specific PCR (QM-MSP) assay. Methylation-specific melting curve analysis (MS-MCA) were used to analyze the data.
Results: The median unmethylated DNA index was significantly higher in cases compared to controls, and hypormethylation of NOD2 gene was significantly correlated with UC (Unmethylated DNA in UC vs. HC; 0.102±0.055 vs. 0.025±0.016, P = 0.000).
Conclusion: The NOD2 gene that was differentially methylated in UC patients, providing new insights into the pathogenesis of UC, with a view to making steps toward the development of accurate biomarkers for diagnostic tools in UC.
T and B lymphocytes development and function are highly dependent on Recombination Activating Genes (RAG) 1 and 2. RAG mutations result in different degree of T and B cell impaired function, broad clinical manifestations, and immunological manifestations. Pathogenic mutations cause severe combined immunodeficiency (SCID) phenotype, while hypomorphic mutations are responsible for leaky or partial SCID.
Here, we described a 4-year-old girl who had a persistent diarrhea, recurrent infection and vomiting. Although physicians were suspicious about autoimmune enteropathy, her molecular report showed a homozygous and novel RAG2 mutation in its core domain. The number of CD4 T cells and IgA level were lower than normal ranges. Lack of IgA brought about different GI complications. Our patient died finally because of the liver and gallbladder failure.
Objectives: Proper knowledge transfer to medical students would be highly important in training future generation of physicians and scientists. the current pilot study was designed to determine a model of gamification would be efficient in education of primary immunodeficiency diseases (PIDs) in medical students.
Results: 15 PIDs were selected among the most common PIDs, and were described as an infographic case-problem. The cases were distributed among the students via emails and social media. Generally, we received 125 answers (102 correct and 23 incorrect). For each correct answer, the student was rewarded with a grant. In case of an incorrect answer, the student was encouraged to continue efforts on providing the most accurate answer. The immediate feed-backs encouraged some students to more precisely seek for the correct answer. The pattern of received answers, could provide a clue for the trainer regarding which PIDs have been more commonly learnt and established in minds, and which ones may need more practice and explanation in classes. It is proposed that not only such methods would make the teaching-learning process more exciting, but also, they may lead to more permanent establishment of an educational concept in the students’ minds.
Nima Rezaei, MSc, MD, PhD.
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