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.

  • Country of Publication: Iran
  • Owner: Tehran University of Medical Sciences
  • Publisher: Tehran University of Medical Sciences
  • Format: Electronic Only
  • E-ISSN: 2645-4831
  • Acceptance Rate: 30%
  • Frequency: Quarterly
  • Language: English
  • Scope: High quality scientific (basic and translational) and clinical-epidemiological papers on a wide range of pediatrics and adult immunological and genetical disorders including topics such as Clinical immunology, Infection immunology, Immunobiology, Immunogenetics, Immunohematology, Immunopathology, Transplantation immunology, Tumor immunology.
  • Article Processing Charges: Free of charge
  • Type of Journal: Scientific - research
  • Open Access: All papers are freely available
  • Indexed & Abstracted: Google Scholar
  • Peer Review Policy: Double Blind Peer Review
  • Review Time: 2-4 Months
  • Contact E-mail: igj.journal@gmail.com

Current Issue

Vol 3, No 3 (2020)
Published: 2020-12-15

Review Article

  • XML | PDF | downloads: 28 | views: 33 | pages: 8-15

    Activated PI3 kinase delta syndrome (APDS) is a newly recognized primary immunodeficiency that was firstly discovered in 2013. APDS can result from gain-of-function mutations in PI3Kδ catalytic p110δ (PIK3CD known as APDS1) and regulatory p85α (PIK3R1 known as APDS2). Patients with APDS syndrome mostly present some major manifestations such as lymphadenopathy and autoimmune diseases like cytopenia and Immune thrombocytopenic purpura (ITP). Distinguishing APDS from the other antibody deficiencies such as the common variable immunodeficiency (CVID) and hyper IgM disorders is very important to use appropriate and targeted treatment strategies. In this review article, we attempted to discuss the pathogenesis, cell abnormality, clinical manifestations, diagnosis, and treatment of APDS disorder.

  • XML | PDF | downloads: 20 | views: 26 | pages: 16-29

    Chronic granulomatous disease (CGD) is a relatively rare inborn error of immune system caused by defects in the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex which leads to impaired production of reactive oxygen species (ROS) and ineffective phagocyte function. Genetic defects of any of proteinaceous components of NADPH oxidase complex results in CGD. The most common type of CGD (65-70%) is caused by X-linked mutations in the CYBB gene encoding gp91phox, followed by autosomal recessive mutations in the NCF1, NCF2, CYBA and NCF4 genes encoding p47phox, p67phox, p22phox, and p40phox, respectively. Dihydrorhodamine (DHR) 123 oxidation and nitroblue tetrazolium (NBT) tests are both used for the diagnosis of CGD that should be confirmed by genetic testing. CGD patients generally present with recurrent infections caused by uncommon pathogens like aspergillus, staphylococcus aureus, burkholderia cepacia, serratia marcescens, Aspergillus species and nocardia. They manifest with deep seated abscess formation, genitourinary and gastrointestinal granuloma development, autoimmunity and malignancy. Apart from comprehensive treatment of acute infections, management of CGD is based on reducing bacterial and fungal infections in addition to minimizing the inflammatory symptoms. Antibiotics, anti-fungal and IFN-γ are used for prophylaxis. Allogeneic hematopoietic stem cell transplantation from a human leucocyte antigen identical donor is currently the only proven curative treatment for CGD. Gene therapy is considered an alternative, novel therapeutic approach in near future.

Original Article

  • XML | PDF | downloads: 20 | views: 20 | pages: 30-38

    Background/objectives: the common variable immunodeficiency (CVID) is known as the most prevalent symptomatic primary immune deficiency (PID) diseases, which is characterized by lower antibody serum levels as well as several infectious and noninfectious manifestations. In this regard, Bronchiectasis is considered as a common respiratory complication and a vital challenge in CVID cases. This study aimed to evaluate the prevalence of bronchiectasis and investigate its association with other manifestations in CVID patients.
    Methods: A total of 297 patients diagnosed with CVID according to the relevant criteria were included in the current study. The query was performed to collect the participants’ demographic data, clinical manifestations, and laboratory findings. The analysis was performed between the two groups of the study including CVID patients with bronchiectasis and those without it.
    Results: Overall, the prevalence rate of bronchiectasis was calculated to be 28.3%. Also, CVID patients with bronchiectasis had a significant higher prevalence rates of respiratory manifestations, recurrent infections, otitis, clubbing, lymphoproliferative diseases, urinary tract infections, gastrointestinal diseases, dermatologic infections, allergy, and autoimmunity compared to the group including the patients without bronchiectasis. Notably, no significant differences were observed in antibodies serum levels between the patients with and without bronchiectasis. Moreover, CD19+ lymphocytes and CD8+ lymphocytes had significantly lower and higher percentages in CVID patients with bronchiectasis compared to those without it, respectively.
    Conclusions: The higher prevalence of bronchiectasis in CVID patients might be correlated with some other severe respiratory and off-respiratory clinical complications. Therefore, these manifestations should be precisely managed to impede a serious condition of bronchiectasis in CVID patients.

  • XML | PDF | downloads: 12 | views: 15 | pages: 39-46

    Background: Hyper IgM (HIGM) syndrome or immunoglobulin class-switch recombination deficiency (Ig-CSR) is a group of primary immunodeficiencies (PIDs) where B cells are unable to undergo the process of immunoglobulin class -switching recombination (CSR), a process in which B-cells modify their DNA to switch from production of IgM to other immunoglobulins. Hence, the affected patients exhibit normal to high levels of serum IgM and low or absence of other immunoglobulin isotypes relative to mean values of age. Therefore, the present study was conducted to assess the demographic data, clinical manifestation, and immunological findings in the sporadic and familial types of HIGM.
    Method: Demographic data, laboratory findings, and clinical presentations of 79 Iranian patients diagnosed with HIgM syndrome were collected. All the patients were classified into two different groups: sporadic and familial types of HIGM.
    Results: Male to female ratio was significantly higher in the familial group compared to the sporadic group so that, 94.7% of the patients were male in the familial group, while only 70% of the sporadic patients were male (P=0.032). It was also found that the familial group had a significantly higher consanguinity rate (P=0.047) and a significantly lower delay of diagnosis compared to the sporadic group (P=0.006). The lower respiratory infection (42%) followed by upper respiratory infection (26%) and diarrhea (15%) were the most frequent initial presentations. It was shown that diarrhea, as an initial presentation was about three times more common among the familial group (31.6%) compared to the sporadic group (10%, P=0.028). Otitis was also found to be more prevalent in the sporadic group (P=0.042).
    Conclusion: Our findings could be explained by more careful screenings and more vigilant and informative parents in the families with another affected member.

Case Report

  • XML | PDF | downloads: 22 | views: 29 | pages: 47-52

    Severe combined immunodeficiency (SCID) is one of the most serious and life-threatening forms of primary immunodeficiency disorders (PID). SCID patients manifest a large clinically heterogeneous group of monogenic disorders caused by a defect in human innate and adaptive immune response. It leads to an increased susceptibility to variety of infections, sometimes with fetal outcome. To date, more than 30 candidate genes and mutations in patients with SCID phenotype have been identified. We found a homozygous variation (c.1454 A>G_ p. Asn485Ser) in the MALT1 identified by WES in an expired infant with SCID. The mutation in MALT1 is associated with absence of T cell activation, which produces immature lymphocytes leading to SCID.

  • XML | PDF | downloads: 16 | views: 24 | pages: 53-58

    Bialelic LRBA mutations leads to an Immune dysregulation disorder which name is LRBA deficiency. A wide spectrum of clinical manifestation associated with recurrent infections, enteropathy, hypogammaglobulinemia, and autoimmune manifestations. LRBA interacts with CTLA-4 within recycling it to the T-cell surface. Accordingly, LRBA deficiency abolish CTLA4 protein expression. In this study, we present a case with homozygous mutation in LRBA gene and normal level of CTLA4 protein. This patient revelaed low immunoglobulin levels, CD4+ cells, and CD19+ cells.

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