Immunology and Genetics Journal最新文献

{"title":"Clinical Manifestations and Laboratory Findings in Patients with Leukocyte Adhesion Deficiency (LAD)","authors":"M. Nirouei, Arman Maghoul, M. Heidarzadeh, Reihane Sharif","doi":"10.18502/igj.v4i1.8395","DOIUrl":"https://doi.org/10.18502/igj.v4i1.8395","url":null,"abstract":"Objectives: Leukocyte Adhesion Deficiency (LAD) is a rare, inherited, immunodeficiency disease which is caused by defects in the leukocyte adhesion process. The migration of leukocytes to the blood vessel’s wall, needs multiple steps called adhesion cascade. In LAD, defects in rolling, integrin activation and firm adhesion of the leukocytes have been described. \u0000Methods: In this study, we selected 67 patients with the confirmed diagnosis of LADs, from Iranian immunodeficiency registry center. A demographic information of the clinical complications and laboratory data were obtained from all the patients to evaluate the clinical manifestations. \u0000Results: A total of 67 patients (38 male and 29 female), with a median age of 18 months old, were included in the present study. The first presentations were omphalitis in 28.35% of the cases, followed by delayed umbilical cord separation in 22.38% of the patients. The frequency of delayed umbilical cord separation was 41.8%, and was higher among other manifestations of our patients. Cellulitis and Omphalitis were observed in 40.3% and 38.8% of the patients, respectively. Regarding the laboratory findings, we found leukocytosis in 86.6 %( neutrophil dominant in 76.1%), and anemia in 77.6%, and thrombocytosis in 25.4% of the patients. \u0000Conclusion: We indicated in the present study that the most common clinical manifestations, were delayed umbilical cord separation and recurrent infection in Iranian patients with LAD disorders. In laboratory findings, we found leukocytosis in most of the patients. CD18 was decreased in more than 90 % of the patients.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"230 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126979616","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":"Joint Involvement in Patients with LPS-Responsive and Beige-Like Anchor Protein (LRBA) Deficiency: A Case Report and Literature Review","authors":"S. Rasouli, Niusha Sharifinejad, Mazdak Fallahi, Seyedeh Atefeh Hashemi Moghaddam, M. Jamee, Mahsa Rekabi, Zahra Daneshmand, S. Mahdaviani, A. Velayati","doi":"10.18502/igj.v4i1.8396","DOIUrl":"https://doi.org/10.18502/igj.v4i1.8396","url":null,"abstract":"Background: Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency is an inborn error of immunity characterized by a heterogeneous spectrum of manifestations, including enteropathy, immune dysregulation, and autoimmune disorder. Joint involvement has been less frequently reported, and limited data regarding its clinical presentation in LRBA deficiency has been published. \u0000Case presentation and review results: We reported an Iranian girl who was initially presented with recurrent respiratory tract infections and otitis media, later complicated by arthritis, growth failure, and organomegaly. The diagnosis of LRBA deficiency was confirmed by the identification of a novel homozygous missense variant in the LRBA gene (c.7742T>A, p.M2581K). Along with this report, a literature review focused on joint involvement, on 26 patients with LRBA deficiency was performed. \u0000Conclusion: Non-infectious manifestations such as joint involvement have a broad spectrum in LRBA deficiency. For the timely diagnosis and appropriate clinical management, LRBA deficiency should always be kept in mind as a differential diagnosis in patients with joint involvement and clinically typical immune dysregulation.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"141 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124492853","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":"Comparison of Demographic and Clinical Characteristics Among X-Linked and Autosomal Recessive Agammaglobulinemia","authors":"Parham Mardi, M. Jamee, Mohammad Hossein Eslamian","doi":"10.18502/igj.v4i1.8394","DOIUrl":"https://doi.org/10.18502/igj.v4i1.8394","url":null,"abstract":"Background: Congenital agammaglobulinemia is an inborn error of immunity, resulting in the impairment of effective antibody production. Agammaglobulinemia may be due to X-linked or autosomal genetic abnormalities. The primary defect in X-Linked agammaglobulinemia (XLA) and autosomal recessive agammaglobulinemia (ARAG) is the B cell precursors’ failure to mature B-lymphocytes and, ultimately, plasma cells. This study aims to evaluate the differences in clinical and paraclinical characteristics of XLA and ARAG patients. \u0000Method: A total of 58 patients were enrolled in this retrospective study. The data were extracted from the Iranian primary immunodeficiency registry (IPIDR). Forty-eight of the patients were diagnosed with XLA, while the other ten were diagnosed with ARAG. Measures including demographic data, clinical manifestations, and laboratory data of the patients were compared between the groups. \u0000Results: Patients with ARAG, presented manifestations at an earlier age and had a lower diagnosis delay compared to XLA patients. However, the mortality rate was not significantly affected. The pattern of organ involvement also differed between the two groups, as patients with ARAG showed manifestations that are more chronic in nature (e.g., autoimmunity, lymphoproliferation, and allergy). In contrast, XLA patients were more prone to infections and other associated complications (e.g., meningitis, sinusitis, diarrhea, and bronchiectasis). Meningitis was exclusively observed in the XLA group. The number of CD19+ B cells was significantly higher in the ARAG group (P=0.002), While the level of IgM was significantly higher in the XLA group (P=0.045). \u0000Conclusion: Identifying the clinical presentations of XLA and ARAG, may assist clinicians in early diagnosis in the setting of limited available genetic studies.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128966467","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 Origins of the First Reported Cases of the Primary Immunodeficiency Diseases","authors":"S. Rasouli, P. Amirifar","doi":"10.18502/igj.v3i4.7457","DOIUrl":"https://doi.org/10.18502/igj.v3i4.7457","url":null,"abstract":"Background: Inborn Errors of Immunity (IEI) or Primary Immunodeficiency Disorders (PID), are heterogeneous diseases with defects on the components of the immune system. We have provided information about the consanguinity and origins of over 400 affected patients for the first time. \u0000Methods: To study the genes, we used the classification tables provided by the IUIS (the International Union of Immunological Societies) in 2020, that documents the key clinical and laboratory features of more than 400 inborn errors of immunity. \u0000Results: We have identified the national origins of 301 cases with a known gene, while national origins’ information of the 90 other genes (90 cases) was left incomplete, due to the unavailability of the first case reports or the fail to mention the patients’ origin in the article publication of the first report. Among the 301 genes, Asia has the largest geographical dispersion with 103 reported cases. We found that the 101 first case reports, were identified in more than one patient, regardless of the geography they live in. Our survey demonstrated that out of the 165 first reported cases with genetic defects resulted from a consanguineous marriage, 112 cases were identified in Asia. \u0000Conclusions: This report provides valuable information on the geographical data and the prevalence of the various genetic disorders, worldwide. Also, by providing information related to parental consanguinity of the first reported cases with a genetic defect, valuable information about inborn errors of immunity, will be accessible for the researchers, which can be used effectively in future studies.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125666390","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":"Cytokine Patterns in Iranian Patients with Asthma","authors":"S. Alyasin, Z. Kanannejad, H. Esmaeilzadeh, H. Nabavizadeh, R. Amin","doi":"10.18502/igj.v3i4.7455","DOIUrl":"https://doi.org/10.18502/igj.v3i4.7455","url":null,"abstract":"Asthma is one of the most common respiratory diseases caused by chronic airway inflammation. A complex network of cytokines could affect asthma development. IL-4, IL-13, IL-17, and IL-33 have been identified as cytokines associated with asthma severity and these cytokines can be considered as candidate biomarkers for predicting the asthma severity while the IL-10 is lower in asthmatics compared with healthy subjects. There are many controversies about the IL-22, IL-25, and TGF-β levels between the Iranian publications. No significant differences have been observed between the healthy subjects and the asthmatic cases regarding the IL-6 and IL-8.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129743722","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":"Evaluation of B cell and T cell Phenotypes in CVID Patients and its Correlation with the Clinical Phenotypes: Study Protocol","authors":"F. T. Zavareh, Y. Bagheri, A. Keshtkar","doi":"10.18502/igj.v3i4.7464","DOIUrl":"https://doi.org/10.18502/igj.v3i4.7464","url":null,"abstract":"Background: Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency, which manifests a wide range of clinical phenotypes from recurrent infections of the respiratory system to autoimmunity, enteropathy and lymphoproliferative disorders. Some abnormalities in T and B lymphocyte subpopulations may associate with the development of such clinical complications. \u0000Aim of study: The main objective of this case-control study is to investigate the frequency and absolute count of different lymphocyte subsets in CVID patients as well as the cellular proliferation response. Correlation between lymphocyte abnormalities and different clinical phenotypes of the disease such as infection only (IO), autoimmunity (AI), chronic enteropathy (CE) and lymphoproliferative disorders (LP) are determined. We also aim to evaluate the prognosis of CVID for each clinical manifestation based on lymphocyte phenotype. \u0000Methods: A population of genetically unsolved CVID patients after whole exome sequencing (WES) will be subdivided into 4 clinical phenotypes i.e. IO, AI, CE and LP and an equal number of age and sex-matched healthy controls (HC) will be examined for the frequency of distinct subgroups of CD19+ B cells, CD4+ T cells and CD8+ T cells by flow cytometry. The proliferation response of their CD4+ T cells is then evaluated by Carboxyfluorescein succinimidyl ester (CFSE) test, using stimulation of isolated peripheral blood mononuclear cells with anti-CD3 and anti-CD28 antibodies. Data analysis will be assessed by parametric or nonparametric tests based on normality of data distribution using IBM SPSS Statistics, V.24 and Stata software V.14. \u0000 Ethics and dissemination: Ethical approval of this study is received from the Ethics Committee of Tehran University of Medical Sciences (ID number: IR.TUMS.VCR.REC.1396.3380) and all participants will be asked to sign the informed consent statement. Due to the wide range of variables, objectives and questions, the findings of this study are intended to release as multiple publications in peer-reviewed journals and presented at national and international conferences.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"63 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128730174","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":"Evaluation of Serum Level of Interleukin 1 in Patients Suffering from Acute Coronary Syndrome, Admitted to the CCU Ward of AmirAlmomenin Hospital of Zahedan","authors":"H. Khazaei, A. Bolouri, H. Harati, M. Mohammadi, Sayed Mohammad Nasiraldin Tabatabei, Amin Khazaei, Masoud Pishjuo, Zahra Ayoubi Yazdi, B. Khazaei","doi":"10.18502/igj.v3i4.7461","DOIUrl":"https://doi.org/10.18502/igj.v3i4.7461","url":null,"abstract":"Background: Atherosclerosis is a disease in which the particles of fat builds up in the blood vessel’s walls. This build up leads to blood flow blockage or can cause the arteries to narrow, but until the stenosis of the vessel is not more than 70 percent, there won’t be any obvious symptoms. Symptoms are dependent on the location of the stenosis that can bring about diseases such as, Unstable Angina (UA), Myocardial Infarction with Q Wave (MIQW) and Non Q Wave (NMIQW). The most common causes of death in most developed countries is Coronary Artery Disease (CAD), and since the inflammatory factors are one of the causes of these diseases, we decided to evaluate the level of the Interleukin-1 (IL-1) in patients with acute coronary syndrome. Methods: 90 patients, suffering from the acute coronary syndrome were selected, which were previously diagnosed and referred to a cardiologist in the Imam Ali Ebneh hospital’s cardiac ward, in 2011. Five ml of periphery blood was obtained from each patient, after 24 hours of hospitalization. Using the ELISA method, the level of interleukin-1 was measured in the three groups of patients, each with symptoms of UA, MIQW and MINQW. Results: Our findings, showed the highest level of interleukin-1 in the MIQW patients, with the average of 46.55 pg/ml and, the lowest level in the MINQW patients, with the average of 28.17 pg/ml. Moreover, the average level of IL-1 in the patient’s serum with UA, is determined equal to 31.28 pg/ml. Although, there was no significant correlations between the type of MI development and UA, there was a significant correlation between the level of IL-1 and the type of MI development. Conclusion: Despite the fact, that the level of IL-1 was higher than normal in all the group types, and no significant correlation between the type of MI development and UA was found, there was statistically a significant correlation between the types of MI development and the level of IL-1.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"185 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134644009","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":"Professor Asghar Aghamohammadi (1951-2020)","authors":"N. Rezaei","doi":"10.18502/igj.v3i4.7451","DOIUrl":"https://doi.org/10.18502/igj.v3i4.7451","url":null,"abstract":"Professor Asghar Aghamohammadi, the founder of the Immunology and Genetics Journal, passed away on November 14th, 2020, at the age of 69. We were terribly shocked by his death due to the Coronavirus Disease 2019 (COVID-19), while he had been working continuously and actively until late October, before his admission to the hospital because of an infection by the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). Professor Aghamohammadi was born in 1951 in Khouzestan Province, Iran. After completing his primary education in Ahvaz, he studied medicine in Mashad University of Medical Sciences and Jundishapur University of Medical Sciences. After graduating in 1978, he joined the Red Crescent Organization in Iran. Afterwards, he continued his education in pediatrics in 1984, followed by a fellowship in clinical immunology and allergy in 1988. Consequently, he became the faculty member in the Department of Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences, where he dedicated all his life researching on the Primary Immunodeficiency Diseases (PIDs), by making the infrastructure for increasing the general awareness about PIDs, conducting fundamental research on PIDs, and facilitating the diagnosis and treatment of patients with PIDs. Professor Aghamohammadi established the “Iranian Association for PID Patients Support”, the “Iranian Primary Immunodeficiency Diseases Registry (IPIDR)”, “Research Center for Immunodeficiencies”, “Iranian PID Network”, and the “Immunology and Genetics Journal”. His international collaborations and hard works, along with his honesty, are some of his landmarks, which made him one of the world’s scientists top 1%. This is what the young generation should learn from him. The international PIDs communities, including the European Society for Immunodeficiencies (ESID), the Clinical Immunology Society (CIS), the International Patient Organization for Primary Immunodeficiencies (IPOPI), the Jeffrey Modell Foundation (JMF), and the J Project respect him a lot and cannot forget his amazing efforts in the field of PIDs for all these years. We all at the Research Center for Immunodeficiencies (RCID) and the Immunology and Genetics Journal (IGJ), are still in shock and cannot imagine continuing without him. We will not forget that the father of the PIDs in Iran was a remarkable scientist. He will remain in the minds and hearts of all those who were close to him. May his name be always remembered with respect and love.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125382624","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":"Vaccination in Patients with Primary Immunodeficiency Disorders","authors":"A. Khalili","doi":"10.18502/IGJ.V3I4.7453","DOIUrl":"https://doi.org/10.18502/IGJ.V3I4.7453","url":null,"abstract":"Primary Immunodeficiency Disorders (PID), are heterogeneous groups of an abnormality in innate and adoptive immune systems. Patients with these disorders, are susceptible to life threatening infections. Infection control, is an important strategy for improving the quality of life and prognosis. Prophylaxis, intravenous immunoglobulin and antibiotic therapy for a long period of time, is an appropriate option for many patients with PID. But vaccination in immunocompromised patients may play a significant role and various outcomes. Depending on the type of PID, there are different results after the administration of vaccines in patients. In some cases, immune response is perfect and there is a well protection against the syndromes. On the other hand, in some other patients, immune response is impaired, and the vaccination is ineffective or even could lead to severe overwhelming side effects. To date, there are no well established guidelines about the vaccination of immunocompromised people. In this review, we are going to describe the latest recommendations for the immunization of patients with PID, based on the published literatures.","PeriodicalId":406184,"journal":{"name":"Immunology and Genetics Journal","volume":"6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124718511","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}