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.
All submitted manuscripts are checked for similarity through a trustworthy software named iThenticate to be assured about its originality.
The most common human illness is upper respiratory tract infection. It causes a high rate of absenteeism from school and work, as well as decreased efficiency and productivity. Individuals with chronic diseases such as asthma, as well as preterm infants and the elderly, are more susceptible to viral respiratory tract infections. Preliminary studies have shown that probiotics, reduce allergic diseases, asthma and strengthen the immune system, which reduces viral infections. In this mini-review we look at how probiotics and prebiotics affect viral respiratory tract infection. Functional foods containing well-defined probiotic strains, such as probiotic milk or yogurt, can reduce the risk of catching a cold and represent an easy, healthy, reliable, and accessible method for preventing respiratory infections, especially in developing countries. More research is needed to determine the role of probiotics and prebiotics in the treatment and prevention of RTIs, as well as to determine whether any susceptible subgroups of respiratory diseases exist and how these subgroups benefit from probiotic supplementation.
Background: Autoimmune lymphoproliferative syndrome (ALPS) is a congenital disorder that results in an apoptosis impairment of lymphocytes, leading to chronic lymphoproliferation and autoimmunity, mainly autoimmune cytopenia. Some of autoreactive T cells cannot become apoptosis in activation-induced cell death (AICD) pathway; therefore, they have accumulation of autoreactive TCRαβ+CD4−CD8− doublenegative T (αβ- DNT) cells, leading to cytopenia, splenomegaly, lymphadenopathy, autoimmune disorders and a greatly increased lifetime risk of lymphoma. FAS, FASL, CASP8 and CASP10 gene defects are often responsible for the disease, the phenotype of which can vary from asymptomatic/mild forms to severe disease. More rarely, defects are associated to other genes involved in ALPS-like phenotype.
Methods: A systematic literature search was performed in Web of Science, PubMed and Scopus from the earliest available date to march 2021 with standard keywords to find patients with ALPS-like phenotypes. Demographic, clinical, immunological and molecular data were extracted.
Results: In this systematic review we reported 61 patients with genetically determined ALPS-like. Most of ALPS-like cases carry mutations in the STAT3 (n=15), LRBA (n=11) and CARD11 (n=8) genes. The most common presentation was splenomegaly and lymphadenopathy followed by hepatomegaly. The most common autoimmunity was autoimmune hemolytic anemia and immune thrombocytopenic purpura followed by autoimmune neutropenia. Elevated serum immunoglobulin was reported especially in IgG, IgM and IgA.
Conclusion: In the present study, 61 patients with genetically determined ALPS-like were examined. Our results showed that most of ALPS-like cases carry mutations in the STAT3. We reported that the most common presentations were splenomegaly and lymphadenopathy. Elevated serum immunoglobulin, IL-10, vitamin B12 and increased proportion of DNT cells were reported.
Background: The common variable immune deficiency (CVID) is known as the most prevalent symptomatic primary immune deficiency (PID) diseases, which is characterized by hypogammaglobulinemia with variable infectious and noninfectious manifestations. In this study, the researchers aimed to evaluate the frequency of cardiac disorders and investigate its association with other manifestations in CVID patients.
Method: A total of 337 CVID patients registered in the Iranian Primary Immunodeficiency Registry were evaluated in this study. The questionnaire was completed for all patients to collect the participants’ demographic data, clinical manifestations and laboratory finding. The analysis was performed between the two groups of the study including CVID patients with cardiac manifestation and those without it.
Results: The prevalence rate of cardiac manifestation was calculated to be 9.1%. pericardial and myocardial diseases and pulmonary hypertension were the most prevalent complications. CVID patients with a history of cardiac problem had significantly higher prevalence rates of otitis media, lymphoproliferative disorders, splenomegaly, hepatomegaly, failure to thrive and lower numbers of CD8+ T cells and CD19+ B cells compared to the patients without cardiac disorders. Notably, no significant differences were observed in immunoglobulins serum levels, CD3+ and CD4+ T cells between the patients with and without cardiac manifestation.
Conclusion: Regular echocardiographic evaluation and of CVID patients for cardiac complications especially for inflammatory cardiac disease, heart failure and pulmonary hypertension, is critical to reduce the risk of heart disease.
Background: Severe combined immunodeficiency (SCID) is a group of disorders with impairment in function of T, B and sometimes NK cells that could lead to high susceptibility to infectious diseases and premature death. Live-attenuated vaccines are contraindicated in SCID patients. However, in regions without screening programs for SCID, oral polio vaccine (OPV) could lead to vaccine-derived polioviruses (VDPVs) which are reverted to the neurovirulent virus types and could cause outbreaks of vaccine-associated paralytic poliovirus (VAPP) in communities with inadequate vaccine coverage.
Method: 20 SCID patients registered in Iranian national registry for Primary immunodeficiency (PID) disorders were tested for polio virus stool shedding. The demographic data, clinical presentation, polio test results, laboratory data and whole exome sequencing (WES) of the patients were available.
Results: Among the 20 SCID patients enrolled in the study, 6 patients tested positive for immunodeficiency-related VDPVs (iVDPV) shedding. Four patients (20%) had iVDPV type 2, one patient (5%) had iVDPV type 1 and one patient (5%) had iVDPV type 3.
Conclusion: Due to the high possibility of asymptomatic and long-term iVDPV shedding in SCID patients, the enhancement of screening of PID patients for poliovirus and iVDPV excretion is strongly needed
Background: Asthma is one of the most common chronic diseases triggered by viral respiratory infections leading to severe exacerbations. This study was performed to compare asthma with other underlying systemic disorders in coronavirus patients of 2019 (COVID-19) to evaluate any significant difference between these two groups in terms of ICU admission.
Method: The study was a retrospective study using hospital records of patients’ from Intensive Care Units of Azad University hospitals in Tehran. Adult patients admitted to intensive care unit (ICU) due to COVID19 infection for a period of one year from March 2020 to February 2021, were enrolled in this cross-sectional study and their anonymized information was collected from an electronic system.
Results: This study evaluated a total of 160 COVID-19 patients, aged 29 to 92 years old (mean age: 63.03±15.67 years). 90 (56.3%) patients were males and 70 (43.7%) were females. Comparing the mortality rate of COVID-19 patients with underlying systemic disorders to those with asthma showed that there was no significant difference between them. However, the rate of ICU admission in COVID-19 patients with diabetes and hypertension were significant compared with asthma (P =0.03).
Conclusion: Asthma does not increase the risk of ICU admission in case of COVID-19 infection. Among the ICU admitted patients due to COVID-19 infection, the presence of asthma is not necessarily associated with a significant increase in poor outcomes.
Background: IgA deficiency (IgAD) is the most common primary immunodeficiency, which is caused by a defect in IgA antibody production. Most of the patients are asymptomatic. However, patients can present various manifestations. This study was designed to assess the clinical and laboratory manifestations of symptomatic patients with IgA deficiency.
Method: A group of 123 patients with IgA deficiency referred from all over the country to the national immunodeficiency registration center were entered and followed in this study. The data including demographic characteristics, clinical manifestations and laboratory findings recorded at the registry and also the follow-up visits were extracted.
Results: The mean age of studied patients was 17.1 years old. Regarding gender, 45 patients (36.5%) were female. The most common clinical presentations included upper respiratory tract infections in 22 (17.9%), enteropathy in 9 (7.9%), allergic rhinitis in 11 (8.9%), sepsis in 4 (3.3%) patients. Four cases of leukopenia with white blood cell (WBC) <4,000/μl and 21 cases of leukocytosis with WBC> 10,000/μl were observed based on the laboratory results. Moreover, IgG2 and IgG4 in 2 and 11 patients were less than normal rate for their age, respectively.
Conclusion: Although IgA deficient patients are almost always asymptomatic, clinical manifestations such as recurrent sinopulmonary infections, multiple autoimmune diseases, allergic respiratory and skin disorders, gastrointestinal diseases, and rarely severe life-threatening infections could occur.
X-Linked Agammaglobulinemia (XLA) is a prototype of humoral immunodeficiency disorders manifested by recurrent sinopulmonary infections and characterized with low to absence of immunoglobulin production due to absence of B lymphocytes.
There are many reports of unusual complications of this genetic disease such as Pneumocystis carinii pneumonia, enteroviral infections with diverse manifestations, neutropenia during severe infections and also uncommon reports of some autoimmunities. Moreover, Rheumatological diseases are reported as a manifestation of XLA among which dermatomyositis is a known and expected condition. Other connective tissue diseases are rarely reported.
In this report, the researchers described a known case of XLA disease with progressive body pain, muscle ache, tender and tense skinand finally confirmed as a rare occurrence of Eosinophilic Fasciitis / Morphea Overlap.
We presented a case report of Eosinophilic Granulomatosis with Polyangiitis (EGPA) with hepatic involvement which presented itself as multiple nodules in the liver. This confirmed Hprevious literature results, which have reported hepatic involvement in EGPA. The results of the study showed a 45-year-old female with asthma, presented with polyarthralgia, hypostasis in both hands and skin lesions on the body. Lab tests revealed elevated Erythrocyte Sedimentation Rate (ESR) and C-Reactive Protein (CRP). The total Leukocyte count was 11900 (/ul) with 22% Eosinophil. Computed Tomography (CT) scan of both lungs and liver showed multiple irregular nodules. In the biopsy of the skin lesions, Eosinophilic Vasculitis was reported. Electromyography and Nerve Conduction Velocity (EMG-NCV) was compatible to C8-T11 radiculopathy and Axonal Sensory Motor Polyneuropathy. According to the tests and biopsies the patient was diagnosed with EGPA. Although EGPA is characterized by asthma, hypereosinophilia and vasculitis, it can be presented with atypical manifestations as well.
Nima Rezaei, MSc, MD, PhD.
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