Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation.

Background: SLC29A3-related syndromes (SLC29A3-RS) are characterised by severe and multiorgan involvement that has a severe impact on the quality of life of the affected persons and therefore merit further genetic and clinical research. We investigated the clinical and genetic aspects of patients with SLC29A3-RS.

Methods: Six pathogenic variants of the gene were identified in eight families in the current study.

Epidemiology, Sociodemographic Factors and Comorbidity for Allergic Rhinitis, Asthma, and Rhinosinusitis Among 15 to 65-year-Old Iranian Patients.

It is well established that upper and lower airways are often clumped together when diagnosing and treating a disease. This study was designed to determine the prevalence of upper and lower airway diseases and to assess the effect of sociodemographic factors on the prevalence and the comorbidity of these disorders. This cross-sectional population-based study included patients with ages ranging between 15 to 65 years, who were referred to allergy outpatient clinics in various provinces of Iran from April to September 2020.

COVID-19 and renal involvement in children: a retrospective study.

Background: The New coronavirus (SARS COV-2) can cause acute respiratory disease and also multiorgan dysfunction. There is insufficient data about kidney involvement in children. So, this study was done on children with COVID-19 to evaluate nephrological involvement.

Vitamin D in respiratory viral infections: a key immune modulator?

Respiratory viral infections are common respiratory diseases. Influenza viruses, RSV and SARS-COV2 have the potential to cause severe respiratory infections. Numerous studies have shown that unregulated immune response to these viruses can cause excessive inflammation and tissue damage.

Zinc and Respiratory Viral Infections: Important Trace Element in Anti-viral Response and Immune Regulation.

Influenza viruses, respiratory syncytial virus (RSV), and SARS-COV2 are among the most dangerous respiratory viruses. Zinc is one of the essential micronutrients and is very important in the immune system. The aim of this narrative review is to review the most interesting findings about the importance of zinc in the anti-viral immune response in the respiratory tract and defense against influenza, RSV, and SARS-COV2 infections.

Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.

Background: Dedicator of Cytokinesis 8 (DOCK8) deficiency, the most frequent cause of autosomal recessive hyper immunoglobulin (Ig)E syndrome, is a rare combined immunodeficiency.

Objective: In this study, we report seven patients, with consanguineous parents, with five novel variants within the DOCK8 gene.

Methods: For genetic analysis, we performed Whole Exome Sequencing (WES) or targeted sequencing by means of Next-generation sequencing (NGS) for some of the patients.

The association between seropositivity to human toxocariasis and childhood asthma in northern Iran: a case-control study.

Background: Besides the well-known risk factors, Toxocara infection is thought to play a significant etiological role in the development of childhood asthma. To further explore this association, the prevalence of Toxocara infection in sera of asthmatic children and healthy controls in northern Iran was investigated.

Methods: In this case-control study, cases were 145 physician-confirmed asthmatic children diagnosed according to the Global Initiative for Asthma (GINA) guidelines.

BCGitis as the primary manifestation of chronic granulomatous disease.

Patients with primary immunodeficiency disease (PID) are not only vulnerable to mycobacterial disease, but are also more likely to develop adverse events following BCG vaccination. These events can range from regional disease (BCGitis) to disseminated disease (BCGosis). Chronic granulomatous disease (CGD), which is characterized by impaired leukocyte phagocytic function, is one of the many inherited PIDs that increase the body's susceptibility to recurrent bacterial and fungal infections.

Exposure to spp. and infections and risk of allergic rhinitis in children.

Background: Substantial experimental studies suggest a role for helminthes infections in the pathogenesis of allergies, but epidemiologic data have been inconsistent. Unlike to asthma, the association between helminthes infection and allergic rhinitis (AR) has been poorly studied. Therefore, we sought to evaluate the association between exposure to and infections and AR.

CRISPR/Cas9 gene editing: A new therapeutic approach in the treatment of infection and autoimmunity.

CRISPR/Cas9 (clustered regularly interspaced short palindromic repeats/CRISPR-associated protein9) may be viewed as an adaptive bacterial immune system. When a virus infects a bacterium, a fragment of the virus genome is inserted into the CRISPR sequence of the bacterial genome as a memory. When the bacterium becomes infected again with the same virus, an RNA molecule that is a transcript of the memory sequence, directs Cas9, an endonuclease, to the complementary region of the virus genome, and Cas9 disables the virus by a double-strand break.

Association of serum 25-OH vitamin D₃ with serum IgE and the Pediatric Asthma Severity Score in patients with pediatric asthma.

Pediatric asthma is a prevalent disease and has a significant immunologic and inflammatory nature. In recent years, the role of vitamin D₃ in immunologic processes has been studied, and many aspects of this role have been clarified in some human diseases. The aim of this study was to evaluate the relationship among the vitamin D₃ status, Pediatric Asthma Severity Score (PASS), and inflammatory indicators of pediatric asthma.

IgE level in newborn umbilical cord and its relationship with some maternal factors.

Background And Objectives: Allergic diseases are among major pediatric issues as they are highly prevalent and chronic. Therefore, identification of factors contributing to allergic disease could play a significant role in prevention of these conditions. This study aimed at investigating the IgE level in newborn's umbilical cord blood and its relationship with some maternal factors.

Exposure to Ascaris lumbricoides infection and risk of childhood asthma in north of Iran.

Background: Asthma and Ascaris lumbricoides infection are common health issues affecting 250 and 700 million people worldwide, respectively. The relationship between ascariasis and asthma is a matter of substantial interest and research.

Methods: We performed a case-control study to evaluate whether the exposure to Ascaris infection is associated with asthma in children.

Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis.

Background: The number of inherited diseases and the spectrum of clinical manifestations of primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using genomic approaches should be performed for all PID patients since it provides a resource to improve the management and to estimate the prognosis of patients with these rare immune disorders.

Method: The current update of Iranian PID registry (IPIDR) contains the clinical phenotype of newly registered patients during last 5 years (2013-2018) and the result of molecular diagnosis in patients enrolled for targeted and next-generation sequencing.

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort.

Background: Predominantly antibody deficiencies (PADs) are the most common primary immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate effective antibody responses.

Objective: We intended to report most common monogenic PADs and to investigate how patients with PAD who were primarily diagnosed as suffering from agammaglobulinemia, hyper-IgM (HIgM) syndrome, and common variable immunodeficiency (CVID) have different clinical and immunological findings.

Methods: Stepwise next-generation sequencing and Sanger sequencing were performed for confirmation of the mutations in the patients clinically diagnosed as suffering from agammaglobulinemia, HIgM syndrome, and CVID.

The relationship between Toxocara species seropositivity and allergic skin disorders: a systematic review and meta-analysis.

We performed a systematic review and meta-analysis on observational studies to evaluate the possible associations between Toxocara species seropositivity and allergic skin disorders (ASDs). We searched the MEDLINE, ScienceDirect, Scopus, Web of Science and Google Scholar databases to 15 May 2018 to identify the relevant studies. We used a random effects meta-analysis model to generate the pooled odds ratio (OR) and 95% confidence intervals (CIs).

Toxocara spp. infection and risk of childhood asthma: A systematic review and meta-analysis.

Asthma is one of the most common chronic respiratory disease worldwide, with a negative impact on quality of life and socio-economic status of patients. There are some evidences to suggest that Toxocara infection is a neglected risk factor for childhood asthma. We performed a systematic review and meta-analysis to further understanding of this relationship.

Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.

Background: Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited.

Objectives: This study aims to characterize the categories of patients with CIDs in Iran clinically and genetically.

Comparison of early and late intravenous gamma globulin treatment of Kawasaki disease on fever and cardiovascular complications.

Background: Cardiac involvement was the major leading cause of death in patients with Kawasaki and IVIG administration reduces cardiac complications. The objective of this study was to determine the frequency of cardiovascular complications and duration of fever with regard to the time of intravenous immunoglobulin (IVIG) administration of patients with Kawasaki disease.

Methods: This follow-up study was done on all patients with Kawasaki disease who were hospitalized at Amirkola Children's Hospital between 2006 and 2011.

Elevated caspase‑1 activity and IL‑1β expression are associated with the IPAF inflammasome in an experimental model of allergy.

Previous studies have indicated that interleukin (IL)‑1β has an important role in the development of allergic diseases. Therefore, the present study aimed to investigate the upstream pathway underlying IL‑1β production in an experimental model of allergy. BALB/c mice (female, 6‑8 weeks old) were sensitized to recombinant (r)Che a 2 by intraperitoneal injection of rChe a 2 adsorbed onto an alum gel suspension on days 0, 7, 14 and 21.

Spectrum of Phenotypes Associated with Mutations in LRBA.

To date, several germline mutations have been identified in the LRBA gene in patients suffering from a variety of clinical symptoms. These mutations abolish the expression of the LRBA protein, leading to autoimmunity, chronic diarrhea, B-cell deficiency, hypogammaglobulinemia, functional T-cell defects and aberrant autophagy. We review the clinical and laboratory features of patients with LRBA mutations and present five novel mutations in eight patients suffering from a multitude of clinical features.