Practical considerations in diagnosing inborn errors of immunity according to the Middle East and North Africa guidelines.

Purpose Of Review: The rate of inborn errors of immunity (IEI) in the Middle East and North Africa (MENA) region is generally higher than in other parts of the world. IEI patients in MENA exhibit more severe disease phenotypes. One of the most important reasons for this is delayed diagnosis.

Epidermal growth factor receptor and programmed cell death-1 expression levels in peripheral T cell subsets of patients with non-small cell lung cancer.

Lung cancer is the leading cause of cancer-related deaths, in part due to its late diagnosis. Increased epidermal growth factor receptor (EGFR) expression in cancer cells is associated with a poor prognosis, and EGFR tyrosine kinase inhibitors are widely used in cancer treatment. This study aimed to clarify the relationship between EGFR expression on T cells and cancer prognosis in patients with non-small cell lung cancer (NSCLC).

Gastrointestinal system involvement in patients with primary immunodeficiency: a single center experience.

Aim: Primary immunodeficiencies (PIDs) are a heterogeneous disorder group characterized by an impaired immune system, leading to an increased susceptibility to infections and a wide range of clinical manifestations, including gastrointestinal (GI) complications. This study aimed to assess the GI manifestations of PID patients and highlight the significance of atypical gastrointestinal symptoms in the early diagnosis of these patients.

Methods: A retrospective analysis was conducted on pediatric patients diagnosed with PIDs at Selcuk University Medical Faculty from 2011 to 2021.

Evaluation of T-cell subsets in pregnant women infected with SARS-CoV-2.

Objective: Immune responses to SARS-CoV-2 are the main cause of tissue damage in coronavirus disease 2019. However, the pathophysiological mechanism of the disease has not been fully elucidated. The aim of this study was to examine T cell subsets of pregnant women infected with SARS-CoV-2 and evaluate the relationship between the possible differences in trimesters and clinical findings of the disease.

Recurrent Anaphylaxis with Watermelon and Pumpkin Seeds in a Boy Tolerant to Their Pulps.

Seeds are widely consumed as a traditional snack and have rich contents beneficial to health. With an increase in consumption rates, allergic reactions occur more frequently. We focus on multiple seed consumption related to recurrent anaphylaxis in this case.

Case report: Artemis deficiency and 3M syndrome-coexistence of two distinct genetic disorders.

The presence of two different genetic conditions in the same individual is possible, especially in populations with consanguinity. In this case report, we present the coexistence of Artemis deficiency (OMIM 602450) and Three M (3M) syndrome (OMIM 273750). A 10-months-old male patient with neuromotor developmental delay was evaluated for immunodeficiency due to recurrent respiratory infections diarrhea and oral moniliasis from the age of 1.

The role of CD8+ regulatory T cells and B cell subsets in patients with COVID-19.

Background: Coronavirus disease 2019 (COVID-19) has a wide clinical spectrum from asymptomatic to mild, moderate, and severe cases. There are still many unknowns about the role of immunoregulatory mechanisms in COVID-19. We aimed to study regulatory T cells (Tregs) and B cell subsets and evaluate their correlations with severity of COVID-19.

The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity.

Human inborn errors of immunity (IEI) are a group of 485 distinct genetic disorders affecting children and adults. Signs and symptoms of IEI are heterogeneous, and accurate diagnosis can be challenging and depends on the available human expertise and laboratory resources. The Middle East and North Africa (MENA) region has an increased prevalence of IEI because of the high rate of consanguinity with a predominance of autosomal recessive disorders.

Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry.

Monogenic immune dysregulation diseases (MIDD) are caused by defective immunotolerance. This study was designed to increase knowledge on the prevalence and spectrum of MIDDs, genetic patterns, and outcomes in Middle East and North Africa (MENA). MIDD patients from 11 MENA countries (Iran, Turkey, Kuwait, Oman, Algeria, Egypt, United Arab Emirates, Tunisia, Jordan, Qatar, and Azerbaijan) were retrospectively evaluated.

Regulatory T and B cells in transient hypogammaglobulinemia of infancy.

Background: Transient hypogammaglobulinemia of infancy (THI) is a heterogeneous disorder caused by an abnormal delay in reaching normal IgG levels in the first three years of life. Although THI is a common primary immune deficiency, its pathogenesis has not been fully elucidated. We aimed to investigate the role of regulatory T cells (Tregs) and B cells (Bregs) in the pathogenesis of THI.

Regulatory T cells in children with attention deficit hyperactivity disorder: A case-control study.

Objective: The pathophysiology of attention deficit hyperactivity disorder (ADHD) are still not fully elucidated. Immune system dysregulation has emerged as a major etiological focus as a result of the high comorbidity of allergic disease, inflammatory biomarkers, and genetic research. The present study aimed to evaluate peripheral lymphocyte subpopulations and regulatory T cells (Tregs) in children with ADHD.

A novel double hemizygous BTK mutation in a boy presenting with Pseudomonas skin abscesses.

Skin manifestations can serve as critical clues for early diagnosis of inborn errors of immunity. We report a patient with a double novel mutation in the BTK gene, who presented with skin abscesses caused by Pseudomonas aeruginosa. This case illustrates the importance of immune evaluation in patients with therapy-resistant skin lesions.

Reduced Monocyte Subsets, Their Expressions, and Relations to Acute Phase Reactants in Severe COVID-19 Cases.

Monocytes are one of the principal immune defense cells that encounter infectious agents. However, an essential role of monocytes has been shown in the spread of viruses throughout the human body. Considering this dilemma, this study aimed to evaluate monocyte subsets and Human Leukocyte Antigen-DR isotype () expressions in clinical coronavirus disease 2019 (COVID-19) cases.

Correlation of myeloid-derived suppressor cells with C-reactive protein, ferritin and lactate dehydrogenase levels in patients with severe COVID-19.

The novel coronavirus disease 2019 (COVID-19) remains a global health emergency, and understanding the interactions between the virus and host immune responses is crucial to preventing its lethal effects. The expansion of myeloid-derived suppressor cells (MDSCs) in COVID-19, thereby suppressing immune responses, has been described as responsible for the severity of the disease, but the correlation between MDSC subsets and COVID-19 severity remains elusive. Therefore, we classified patients according to clinical and laboratory findings-aiming to investigate the relationship between MDSC subsets and laboratory findings such as high C-reactive protein, ferritin and lactate dehydrogenase levels, which indicate the severity of the disease.

Adverse COVID-19 outcomes in immune deficiencies: Inequality exists between subclasses.

Background: Genetic deficiencies of immune system, referred to as inborn errors of immunity (IEI), serve as a valuable model to study human immune responses. In a multicenter prospective cohort, we evaluated the outcome of SARS-CoV-2 infection among IEI subjects and analyzed genetic and immune characteristics that determine adverse COVID-19 outcomes.

Methods: We studied 34 IEI patients (19M/15F, 12 [min: 0.

Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing.

Patients with inborn errors of immunity (IEI) present with a heterogeneous clinical and immunological phenotype, therefore a correct molecular diagnosis is crucial for the classification and subsequent therapeutic management. On the other hand, IEI are a group of rare congenital diseases with highly diverse features and, in most cases, an as yet unknown genetic etiology. Next generation sequencing has facilitated genetic examinations of rare inherited disorders during the recent years, thus allowing a suitable molecular diagnosis in the IEI patients.

The alteration of lymphocyte subsets in idiopathic granulomatous mastitis.

Background And Aim: This study analyzed peripheral blood lymphocyte subsets to determine their role in the etiopathogenesis of IGM.

Materials And Methods: This study includes 51 pathologically proven IGM patients (active disease: 26 and in remission: 25) and 28 healthy volunteers. The analyses of lymphocyte subsets were performed by flow cytometric immunophenotyping.