A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation.

Cohen syndrome (CS) is a rare autosomal recessive disorder. CS includes a range of clinical symptoms including retinal dystrophy and myopia. The new VPS13B mutation could cause CS-induced neutropenia and petechiae in patients with CS.

Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity.

Background: The inborn errors of immunity (IEIs) are a group of heterogeneous disorders mainly characterized by severe and recurrent infections besides other complications including autoimmune and inflammatory diseases. In this study, we aim to evaluate clinical, immunologic, and molecular data of monogenic IEI patients with and without autoimmune manifestations.

Methods: We have retrospectively screened cases of monogenic IEI in the Iranian PID registry for the occurrence of autoimmunity and immune dysregulation.

Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity.

Background: Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency disorder mainly characterized by recurrent bacterial infections besides other immunological defects including loss of or dysfunction of B cells and decreased immunoglobulin levels. In this study, our aim is to evaluate clinical, immunological, and molecular data of patients with a primary clinical diagnosis of CVID and autoimmune phenotype with a confirmed genetic diagnosis.

Methods: Among 297 patients with CVID, who were registered in the Iranian Primary Immunodeficiency Registry at Children's Medical Center Hospital in Iran, 83 patients have been genetically examined and 27 patients with autoimmunity and confirmed genetic mutations were selected for analysis.

Prevalence of Intestinal Parasites among Patients with Chronic Urticaria in Northern Iran.

Background: Chronic urticaria (CU) has a range of clinical demonstrations and causes. Parasitic infections are mentioned as one of the main causes of the CU.

Objectives: The aim of this study was to investigate the prevalence of intestinal parasites in patients with CU (with duration time of more than 6 weeks) compared healthy subjects.

The Role of FENO in Comparison to Spirometry and ACT in Control of Children Asthma Symptoms.

Fractional exhaled nitric oxide (FeNO) is a noninvasive marker of inflammation, used for monitoring asthma. The aim of this study was to compare FeNO, asthma control test (ACT), and lung function test (spirometry) in children aged 8-15 years. This observational, cross-sectional study was performed on76 asthmatic children (age, 8-15 years), who were referred to the Department of Immunology and Allergy, Children's Medical Center, Tehran, Iran during 2012-2013.

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.

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.