H. Esmaeili, P. Ghandil, A. Ghadiri, M. Ghafourian, Seyed jalal Hashem
{"title":"Association Study of Interleukin 23 Receptor (IL-23R) Polymorphisms with Inflammatory Bowel Disease (IBD) in Khuzestan Province of Iran","authors":"H. Esmaeili, P. Ghandil, A. Ghadiri, M. Ghafourian, Seyed jalal Hashem","doi":"10.18502/igj.v4i4.12756","DOIUrl":"https://doi.org/10.18502/igj.v4i4.12756","url":null,"abstract":"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.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"47 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127520280","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}
S. Pashangzadeh, R. Yazdani, S. Delavari, Hassan Abolhassani, N. Parvaneh
{"title":"Novel RAG2 Mutation in a Patient with Leaky Severe Combined Immunodeficiency","authors":"S. Pashangzadeh, R. Yazdani, S. Delavari, Hassan Abolhassani, N. Parvaneh","doi":"10.18502/igj.v4i4.12758","DOIUrl":"https://doi.org/10.18502/igj.v4i4.12758","url":null,"abstract":"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. \u0000Here, 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. ","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121612302","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":"Case-Based Learning of Primary Immunodeficiency: A Pilot Gamification for Education","authors":"S. Hanaei","doi":"10.18502/igj.v4i4.12762","DOIUrl":"https://doi.org/10.18502/igj.v4i4.12762","url":null,"abstract":"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.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"48 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124943800","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}
Sara Hemmati, Behnoud Baradaran Noveiry, Mahsa Keshavarz-Fathi
{"title":"Cancer and Allergy; Molecular Association and Integrated Therapies","authors":"Sara Hemmati, Behnoud Baradaran Noveiry, Mahsa Keshavarz-Fathi","doi":"10.18502/igj.v4i4.12754","DOIUrl":"https://doi.org/10.18502/igj.v4i4.12754","url":null,"abstract":"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.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"37 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131443601","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}
G. Sanati, M. Noruzinia, D. Jafari, M. Ahmadvand, S. Teimourian, N. Daryani, S. Hanaei, N. Rezaei
{"title":"Quantitative Evaluation of NOD2 Promoter Methylation Profiling in Colon Biopsy Samples from Ulcerative Colitis Patients and Non-Colitis Controls","authors":"G. Sanati, M. Noruzinia, D. Jafari, M. Ahmadvand, S. Teimourian, N. Daryani, S. Hanaei, N. Rezaei","doi":"10.18502/igj.v4i4.12757","DOIUrl":"https://doi.org/10.18502/igj.v4i4.12757","url":null,"abstract":"Background: 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. \u0000Methods: 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. \u0000Results: 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). \u0000Conclusion: 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.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114450044","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}
T. Cheraghi, Afshin Safaee, E. Esmaili, Kiomars Golshekan, Maryam x Maryam Ghavideldarestani
{"title":"Omenn Syndrome Caused by A Novel Mutation of the DCLRE1C Gene: Case Report and Review of Literature","authors":"T. Cheraghi, Afshin Safaee, E. Esmaili, Kiomars Golshekan, Maryam x Maryam Ghavideldarestani","doi":"10.18502/igj.v4i3.12113","DOIUrl":"https://doi.org/10.18502/igj.v4i3.12113","url":null,"abstract":"We report a case of Omenn syndrome due to a novel mutation of the gene DCLRE1C(Artemis). He was referred to our hospital with a complaint of protracted diarrhea, erythematoexfoliative rash, urinary tract infection, pneumonia, and failure to thrive. He was 2 months old. At the first sight, the diagnoses of Omenn syndrome, graft versus host disease (GVHD), Netherton syndrome, and Atopic dermatitis came to mind. Laboratory evaluation showed lymphopenia, eosinophilia, high IgE, and whole-exome sequencing revealed a mutation of the DCLRE1C gene. After obtaining blood samples, he received broad-spectrum antibiotics, antifungals, antiviral, prophylaxis for pneumocystis Jirovecii pneumonia, and Intravenous immunoglobulin. He expired owing to delayed referral and overwhelming sepsis before receiving bone marrow transplantation. In every neonate infant presenting with erythematoexfoliative skin rash, refractory infection, and lymphopenia, Omenn syndrome should be considered.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"16 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114812757","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":"Bacteriophage Therapy as an Alternative to Antibiotics: A Dead End or A Solution?","authors":"Amirhossein Rismanbaf","doi":"10.18502/igj.v4i3.12114","DOIUrl":"https://doi.org/10.18502/igj.v4i3.12114","url":null,"abstract":"Antibiotic resistance has been around for years and could lead to a serious crisis in the near future. If the problem of antibiotic resistance is not solved, antimicrobial resistance is predicted to increase, killing 10 million people annually by 2050 (more than the number of cancer deaths), and costing the global economy approximately $100 trillion USD, because of this, it will need the rapid development of alternative therapies. This issue prompted scientists to find a solution; the use of bacteriophages as an alternative to antibiotics is one of these tactics. In this review article, I will first focus on bacteriophages from various aspects and then, by analyzing the available information, I will try to answer the following questions: \u0000 \u0000Given the meager standard clinical data and characteristics of bacteriophages, is bacteriophage therapy a safe and reliable method? \u0000Given the short time left before the antibiotic resistance crisis, is it cost-effective to invest in bacteriophage? \u0000Are bacteriophages a double-edged sword? (Besides being used to treat bacterial diseases in the future, do bacteriophages have the potential to become a human virus in the future?) \u0000","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"61 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131400539","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}
S. Hanaei, G. Sanati, M. Sadr, S. Gharibzadeh, Roham Salmanroghani, Hassan Salmanroghani, N. Rezaei
{"title":"DNA Methylation of JAK2 Gene in Intestinal Biopsy and Peripheral Blood Samples of Patients with Ulcerative Colitis","authors":"S. Hanaei, G. Sanati, M. Sadr, S. Gharibzadeh, Roham Salmanroghani, Hassan Salmanroghani, N. Rezaei","doi":"10.18502/igj.v4i3.12115","DOIUrl":"https://doi.org/10.18502/igj.v4i3.12115","url":null,"abstract":"Background: Comprised of two main subtypes (Ulcerative Colitis (UC) and Crohn), inflammatory bowel disease is caused by an interaction between genetic and environmental factors. As of the important role of innate immunity and JAK/STAT signaling pathway, the current study was designed to investigate the methylation status JAK2 gene in blood and tissue samples of patients with UC. \u0000Methods: Genomic DNA was extracted from blood and intestinal biopsy samples of 28 UC patients and 28 controls. After bisulfite DNA conversion, real-time quantitative multiplex methylation specific PCR (QM-MSP) method was applied in order to assess JAK2 promotor methylation status. \u0000Results: The JAK2 promotor in the intestinal biopsy samples was significantly hypermethylated in UC as the mean of unmethylated DNA was 1.255±1.865 in the patients group, while it was 1.292±4.726 in control group. \u0000Conclusion: Hypermathylation of JAK2 gene may play a part in pathophysiology of UC which could result in gene silencing.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114123284","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}
M. Sadeghi-shabestari, Masoud Naderpoor, Samira Farzipour, Azar Dastranji
{"title":"The Role of Intranasal Corticosteroid Therapy in Pediatric Adenoidal Hypertrophy: A Randomized Clinical Trial Study","authors":"M. Sadeghi-shabestari, Masoud Naderpoor, Samira Farzipour, Azar Dastranji","doi":"10.18502/igj.v4i3.12116","DOIUrl":"https://doi.org/10.18502/igj.v4i3.12116","url":null,"abstract":"Background: Adenoidal hypertrophy (AH) is a common disorder in pediatric population with severe complications due to nasal air way obstruction. Adenoidectomy is a choice treatment for children with severe symptoms due to AH; however, it is accompanied by several side effects such as complication of surgery and emotional distress. We evaluated the efficacy of intranasal corticosteroid therapy in size and symptoms of Adenoid Hypertrophy especially in atopic patients. \u0000Methods: In this clinical trial 45 children aged 2 to 14 years old with AH were enrolled. All of them underwent 8-week course of intranasal Fluticasone therapy and their symptoms before and after treatment were scored and compared by questionnaires. Also they were divided into Atopic and non- Atopic groups based on history, physical examination and positive skin prick test. Then the two groups were compared after the treatment according to their response to therapy. \u0000Results: After 8 weeks’ treatment with intranasal corticosteroid, improvement in all symptoms score of AH including (Snoring, Sleep Apnea, Mouth breathing and Nasal congestion) was statistically significant (P = 0.000). The improvement in clinical symptoms of AH after treatment was observed in 92% of atopic patients in comparison with non-atopic patients was 50%, which was also statistically significant (P = 0.024). \u0000Conclusion: Our study demonstrated that 8-week intranasal corticosteroid was associated with a decrease in size of AH and all symptoms of obstruction. As a result, it can be suggested that intranasal corticosteroid therapy can prevent adenoidectomy especially in atopic patients.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"40 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122885009","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}
S. Arshi, M. Nabavi, M. Bemanian, M. Fallahpour, S. Delavari, N. Rezaei, S. Shokri
{"title":"The Novel ZBTB24 Mutation Identified in an Iranian Patient with Type 2 ICF Syndrome","authors":"S. Arshi, M. Nabavi, M. Bemanian, M. Fallahpour, S. Delavari, N. Rezaei, S. Shokri","doi":"10.18502/igj.v4i3.12117","DOIUrl":"https://doi.org/10.18502/igj.v4i3.12117","url":null,"abstract":"Autosomal-recessive immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is mainly determined by recurrent tract respiratory and gastrointestinal infections in early childhood due to agammaglobulinemia. Most patients with ICF syndrome die of infection at a young age, usually in the first or second decade of life. The leading cause of ICF disorders is mutations in genes whose products play a role in DNA methylation. ICF syndrome is classified into two groups: type 1 (ICF1) patients have mutations in the DNMT3B gene, and about half of type 2 (ICF2) patients have mutations in the ZBTB24 gene. In this study, we report the case of a 34-year-old female of Iranian consanguineous parents, who was diagnosed at one year of age with ICF-2 syndrome with recurrent infections, mental retardation, and a homozygous novel mutation in the ZBTB24 gene.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"239 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116390623","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}