MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort.

Background: Major histocompatibility complex class II deficiency, a combined immunodeficiency, results from loss of HLA class II expression on antigen-presenting cells. Currently, hematopoietic stem cell transplantation stands as the sole curative approach, although factors influencing patient outcomes remain insufficiently explored.

Objectives: To elucidate the clinical, immunologic, and genetic profiles associated with MHC-II deficiency and identify prognostic indicators that affect survival rates.

Comparison of clinical features of cystic fibrosis patients eligible but not on CFTR modulators to ineligible for CFTR modulators.

Introduction: Cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs target the underlying defect and improve CFTR function. They are a part of standard care in many countries, but not all patients are eligible for these drugs due to age and genotype. Here, we aimed to determine the characteristics of non-eligible patients for CFTR modulators in the CF registry of Turkey (CFRT) to highlight their clinical needs.

Clinical characteristics of children with asthma exacerbations: a cross-sectional descriptive study.

Aim: In this cross-sectional descriptive study, we aimed to determine the clinical characteristics of children admitted to a tertiary hospital with asthma exacerbations in a city in southern Turkey where aeroallergens are common and to determine how these characteristics affect the severity of exacerbations.

Methods: Data from a cross-sectional analysis of children with asthma exacerbations who were followed up at the Cukurova University Medical Faculty Pediatric Emergency Department (ED) and Pediatric Allergy & Immunology inpatient clinic were retrospectively analyzed. The study included 106 children who were diagnosed with asthma and did not have any additional comorbidities.

Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency.

Background: LPS-responsive beige-like anchor (LRBA) deficiency (LRBA) and cytotoxic T-lymphocyte-associated antigen-4 (CTLA4) insufficiency (CTLA4) are mechanistically overlapped diseases presenting with recurrent infections and autoimmunity. The effectiveness of different treatment regimens remains unknown.

Objective: Our aim was to determine the comparative efficacy and long-term outcome of therapy with immunosuppressants, CTLA4-immunoglobulin (abatacept), and hematopoietic stem cell transplantation (HSCT) in a single-country multicenter cohort of 98 patients with a 5-year median follow-up.

Clinical characteristics of patients requiring lung transplantation referral in national cystic fibrosis registry data.

Background: We aimed to determine the number of cystic fibrosis (CF) patients recorded in the Cystic Fibrosis Registry of Türkiye (CFRT) who were in need of lung transplantation (LT) referral and examine clinical differences between patients who were LT candidates due to rapid forced expiratory volume in one second (FEV₁) decline and LT candidates without rapid FEV₁ decline in the last year to identify a preventable cause in patients with such rapid FEV₁ decline.

Methods: All CF patients recorded in the CFRT in 2018 were evaluated in terms of LT. Patients were divided into those with FEV₁ below 50% and in need of LT due to a decrease of 20% or more in the previous year (Group 1) and those who did not have FEV₁ decline of more than 20% in the previous year but had other indications for LT (Group 2).

COmparisoN of TastES of Available NutriTional integrated or non-integrated formulas for infants older than 1 year of age with cow's milk allergy: A multicenter, prospective, single blind, cross-sectional observational clinical study (CONTEST Study).

Palatability of the infant formulas lacking cow milk protein formulas is reported by parents to be an important drawback. The purpose of this study is to examine decisions made by mothers of infants having cow milk protein allergy, and physicians concerning the palatability of unflavored extensively hydrolyzed formulas and amino acid-based formulas. We conducted a multi-center, randomized, single-blinded, observational taste study involving 149 pediatricians from gastroenterology and allergy subspecialties at 14 tertiary healthcare units from different regions of Turkey and involving 94 mothers of infants with cow milk protein allergy.

Premature Infants have no Higher Risk of Atopy and Respiratory Functions Compared to Control at 4-6 Years of Age.

Aims: This study aimed to evaluate the respiratory functions and atopy conditions of preterm infants treated with aminophylline or caffeine for apnea in NICU in early childhood.

Materials And Methods: This is a retrospective cohort study. In this study, 27 patients aged 4 to 6 years hospitalized in NICU for prematurity and 26 healthy children were included.

Differentiating children with familial Mediterranean fever from other recurrent fever syndromes: The utility of new Eurofever/PRINTO classification criteria.

Objectives: In this study, we aimed to investigate the performance of Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO) classification criteria in pediatric patients with familial Mediterranean fever (FMF).

Patients And Methods: This retrospective, cross-sectional study included a total of 130 pediatric FMF patients (67 males, 63 females; mean age: 12.4±3.

The success of the Cystic Fibrosis Registry of Turkey for improvement of patient care.

Background: Cystic fibrosis (CF) registries play an essential role in improving disease outcomes of people with CF. This study aimed to evaluate the association of newly established CF registry system in Turkey on follow-up, clinical, growth, treatment, and complications of people with this disease.

Methods: Age at diagnosis, current age, sex, z-scores of weight, height and body mass index (BMI), neonatal screening results, pulmonary function tests, history of meconium ileus, medications, presence of microorganisms, and follow-up were evaluated and compared to data of people with CF represented in both 2017 and 2019 registry data.

Clinical features of anaphylaxis in children.

Despite the considerable increase in anaphylaxis frequency, there are limited studies on clinical features of anaphylaxis in children in developing countries. We aimed to analyze the demographic and clinical features of anaphylaxis in children in Turkey by comparing different age groups and triggers. Medical records of 147 children, ages 0-18 years, diagnosed with anaphylaxis between 2010 and 2019 were retrospectively analyzed.

Asthma and risk factors in the first 6 years of life in a population-based cohort.

Background: The frequency of asthma increases in childhood and asthma is associated with risk factors varying across age groups. The aim of our study was to assess the prevalence of asthma and its associated risk factors in the first six years of life.

Methods: Within the scope of the Adana Pediatric Allergy and Risk Factor (ADAPAR) birth cohort study, 203 infants that had experienced at least one wheezing attack during the first year of life were followed for asthma development until the age of six years.

Geographical barriers to timely diagnosis of cystic fibrosis and anxiety level of parents during newborn screening in Turkey.

Background: Despite the availability of cystic fibrosis (CF) screening countrywide, diagnostic delay is still a crucial issue. The objectives of this study were to explore the stages of the NBS process, determine the risk factors associated with diagnostic delay and evaluate parent anxiety and experience throughout the process.

Methods: This is a multicenter cross-sectional study.

Clinical findings of patients with cystic fibrosis according to newborn screening results.

Background: Cystic fibrosis (CF) is a lethal recessive genetic disease caused by loss of function associated with mutations in the CF trans-membrane conductance regulator. It is highly prevalent (approximately 1 in 3,500) in Caucasians. The aim of this study was to compare demographic and clinical features, diagnostic tests, treatments, and complications of patients with CF whose newborn screening (NBS) with twice-repeated immune reactive trypsinogen testing was positive, normal, and not performed.

Clinical phenotypes of childhood food allergies based on immune mechanisms: A multicenter study.

Food allergies (FA) are an important public health concern that place a major burden on the lives of children and their families. The complex pathogenesis of FAs results in multisystemic and heterogenous clinical presentations. To evaluate, according to immune mechanisms, the characteristics and risk factors of childhood FA in Turkey.

Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Background: Cystic fibrosis (CF) is the most common worldwide, life-shortening multisystem hereditary disease, with an autosomal recessive inheritance pattern caused by mutations in the cystic fibrosis transmembrane conductance regulator () gene. The national newborn screening (NBS) program for CF has been initiated in Turkey since 2015. If the immunoreactive trypsinogen (IRT) is elevated (higher than 70 μg/L in the second control) and confirmed by sweat test or clinical findings, genetic testing is performed.

Retrospective Analysis of the Factors Affecting Growth Parameters in Turkish Children With Systemic Lupus Erythematosus.

Objectives: This study aims to investigate the growth parameters in Turkish children with systemic lupus erythematosus (SLE) and to compare these growth parameters according to the presence or absence of cyclophosphamide, rituximab treatment, cumulative corticosteroid dose, proliferative nephritis, and the last visit disease activity and damage index.

Patients And Methods: Medical data, growth parameters including z-scores for weight, height, and body mass index and parent-adjusted height z-scores of 45 juvenile SLE (jSLE) patients (5 males, 40 females; mean age 12.3±3.

Evaluation of different classification criteria in children with Behcet disease: results from a single referral center.

Objectives: Behcet Disease (BD) is a systemic vasculitis, first described with a triad of oral aphthous ulcers, genital ulcers, and uveitis. The authors aimed to share the clinical properties and utilities of three distinct classification criteria for BD in this study.

Methods: This case-control study was conducted in pediatric BD patients, diagnosed between January 2012 and July 2019.

Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort.

Background: Chronic granulomatous disease (CGD) is characterized by defective microbial killing due to mutations affecting subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. Definitive genetic identification of disease subtypes may be delayed or not readily available.

Objective: Sought to investigate the role of intracellular staining of NADPH oxidase enzyme subunits in predicting the respective genetic defects in patients with CGD and carriers.

Growth Parameters of Turkish Children With an Autoinflammatory Disease Before and After Canakinumab Treatment.

Objective: To evaluate the effect of canakinumab on growth parameters of patients with autoinflammatory diseases.

Methods: This retrospective study included Colchicine resistant familial Mediterranean fever (FMF), Mevalonate kinase deficiency (MKD), Tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), Deficiency of adenosine deaminase 2 (DADA2) patients treated with canakinumab for at least six consecutive months.

Results: Eleven patients with FMF, 9 with MKD, 3 with TRAPS, and 1 with DADA2 were included.

Treatment Options for Cow's Milk Protein Allergy: A Modeling Analysis.

Purpose: Cow's milk protein allergy (CMPA) is one of the most common food allergies in early childhood. We aimed to evaluate clinical and economic outcomes of the amino-acid formula (AAF) and extensively hydrolyzed formula (eHF) based treatment of CMPA by using data available from Turkey and otherwise from literature.

Materials And Methods: A theoretical model was developed to evaluate AAF and eHF for CMPA treatment in terms of the number of children tolerating formula or experiencing an allergic reaction or withdrawing formula due to taste or other palatability features and CMPA related direct medical costs from the payer perspective.

Patients eligible for modulator drugs: Data from cystic fibrosis registry of Turkey.

Background: A better understanding of cystic fibrosis transmembrane conductance regulator biology has led to the development of modulator drugs such as ivacaftor, lumacaftor-ivacaftor, tezacaftor-ivacaftor, and elexacaftor-tezacaftor-ivacaftor. This cross-sectional study evaluated cystic fibrosis (CF) patients eligible for modulator drugs.

Methods: Data for age and genetic mutations from the Cystic Fibrosis Registry of Turkey collected in 2018 were used to find out the number of patients who are eligible for modulator therapy.