Immunology and Genetics Journal
Volume:3 Issue: 4, Dec 2020

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.

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.

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 levels.

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.

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.

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.

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.

X-Linked Agammaglobulinemia (XLA) is a primary immunodeficiency disease, characterized by severe hypogammaglobulinemia and the low numbers of peripheral B cells. Neutropenia is a rare complication among the XLA patients, which may lead to a higher rate of infections and morbidity. The aim of the authors is to assess the correctness of this issue.

In this study, we compared demographic, clinical and laboratorial data between two groups of XLA patients, with and without neutropenia.

Frequency of neutropenia was 15% in our population. Infectious complications were the most prevalent clinical manifestations, regardless of the presence of neutropenia. However, Lymphoproliferative complication was significantly higher in the neutropenic patients (p = 0.001). No significant difference in mortality rate was observed between the groups.

Neutropenia is a rare complication among the XLA patients, and significantly decreases the mean age of XLA diagnosis in the patients. But it is not related to the higher frequency of infectious diseases in the neutropenic patients compared to non-neutropenic ones.

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.

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.

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.

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.

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.

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.

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 lymphocyte subsets by flow cytometry. The proliferation response of their CD4+ T cells is then evaluated by Carboxyfluorescein diacetate 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.

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 we 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.

There are more than 400 different primary immune deficiencies worldwide. Amongst them, patients with humoral immunodeficiency are more common. Most of the innate immune defects, affect the phagocytic system. There are a few cases of toll-like receptor deficiency with innate immune defects, like TLR3 mutations, which usually present with Herpes simplex encephalitis. Herein, we report a two-year old boy with TLR3 deficiency, who was presented with recurrent infections and type one diabetes mellitus.