A5029111761- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- T-cell and B-cell Immunology
- Immune Cell Function and Interaction
- Mitochondrial Function and Pathology
- Platelet Disorders and Treatments
- Chronic Lymphocytic Leukemia Research
- High Altitude and Hypoxia
- Tracheal and airway disorders
- Eosinophilic Esophagitis
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Restless Legs Syndrome Research
- IL-33, ST2, and ILC Pathways
- Peptidase Inhibition and Analysis
- Respiratory Support and Mechanisms
- Childhood Cancer Survivors' Quality of Life
- Biochemical and Structural Characterization
- Allergic Rhinitis and Sensitization
- Signaling Pathways in Disease
- Respiratory viral infections research
- Celiac Disease Research and Management
- Adenosine and Purinergic Signaling
- Parvovirus B19 Infection Studies
- Acute Lymphoblastic Leukemia research
Marmara University
2021-2025
Fakultet za Poslovni Menadžment u Baru
2025
Istanbul University-Cerrahpaşa
2025
Jeffrey Modell Foundation
2025
Ege University
2021
Abstract Background Genetic deficiencies of immune system, referred to as inborn errors immunity (IEI), serve a valuable model study human responses. In multicenter prospective cohort, we evaluated the outcome SARS‐CoV‐2 infection among IEI subjects and analyzed genetic characteristics that determine adverse COVID‐19 outcomes. Methods We studied 34 patients (19M/15F, 12 [min: 0.6‐max: 43] years) from six centers. diagnosed by finding positive PCR test ( n = 25) and/or lung tomography scoring...
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, outcomes in Middle East North Africa (MENA). MIDD patients from 11 MENA countries (Iran, Turkey, Kuwait, Oman, Algeria, Egypt, United Arab Emirates, Tunisia, Jordan, Qatar, Azerbaijan) were retrospectively evaluated. 343 (58% males 42% female) at a median (IQR) age 101 (42-192) months enrolled. The...
Abstract Purpose Deficiency of stromal interaction molecule 1 (STIM1) results in combined immunodeficiency accompanied by extra-immunological findings like enamel defects and myopathy. We here studied a patient with STIM1 loss-of-function mutation who presented severe lymphoproliferation. sought to explore the efficacy mTOR inhibitor rapamycin controlling disease manifestations reversing aberrant T-cell subsets functions, which has never been used previously this disorder. Methods Clinical...
Children with milk and egg allergies have outcomes in which, three-quarters are tolerant to baked forms of the allergenic food. Identifying predictors tolerance foods for IgE-mediated immediate-type reactions may guide early introduction allergens diet development. This study explores factors associated foods.
Objective: Prolidase deficiency is a metabolic and immunological disorder that inherited in an autosomal recessive manner. In prolidase deficiency, broad spectrum of differences observed patients, ranging from asymptomatic to multisystem involvement. There scarce information the literature on atypical features immunophenotypes this disease. Aim study present 4 new cases provide rare disease raise awareness. Materials Methods: This included female patients with deficiency. Their demographic,...
Childhood cancers, with leukemia at the forefront, comprise 97% acute and 3% chronic leukemia, 75% of leukemias being lymphoblastic origin. Over past 50 years, survival rates have witnessed a remarkable increase, progressing from around 10% to achieving cure exceeding 90% in certain childhood ALL subgroups advent combined therapies. Between 1999 2018, total 123 patients diagnosed B-ALL were initially identified, but after applying exclusion criteria, 105 included evaluation, who treated COG...
Objective: To evaluate treatment adherence, satisfaction, and disease-specific health-related quality of life (HRQL) in children aged 0-12 years with FA their parents. Methods: A cross-sectional study was conducted 100 diagnosed by a physician who required allergen avoidance. Parents completed the Food Allergy Quality Life Questionnaire Parent Form (FAQLQ-PF), (FAPQ), Treatment Satisfaction (TSQM-9), Modified Morisky Scale (MMS). Demographic clinical data were obtained. Results: The median...
Hereditary angioedema (HAE) is a rare disorder characterized by recurrent swelling episodes, including painful abdominal attacks and life-threatening of the larynx that significantly affects patients' quality life, sleep. Sleep disorders have not yet been elucidated in HAE patients. This study evaluated sleep insomnia comparing attack-free periods with abdominal, head-neck, extremity attacks. were assessed using two validated questionnaires Basic Scale on Insomnia Quality (BaSIQS) Pittsburgh...
Abstract Background Artemis deficiency is an autosomal recessive disorder characterized by a combined immunodeficiency with increased cellular radiosensitivity. In this review, the clinical and genetic characteristics of 15 patients DCLRE1C variants are presented. Methods The demographic, clinical, immunologic, confirmed diagnosed between 2013 2023 were collected retrospectively. Three evaluated for radiosensitivity Comet assay, compared age‐ sex‐matched healthy control. Results Seven who...
Immunoglobulin G replacement therapy (IgRT), intravenous (IV) and subcutaneous (SC) routes, is pivotal in treatment of primary immunodeficiencies (PID). In recent years, facilitated immunoglobulin (fSCIG), a combination rHuPH20 10% IgG has emerged as delivery method to combine advantages both IV SC.
Abstract Infants with congenital heart disease (CHD) often undergo thymectomy during corrective cardiac surgery (CCS). The long‐term immunological effects remain controversial, concerns regarding increased susceptibility to infections, allergies, autoimmunity due compromised immune tolerance mechanisms. This study aims elucidate the of early thymectomy. We enrolled 22 patients who underwent in infancy and were followed up Pediatric Allergy Immunology Clinic at Marmara University. performed...
<title>Abstract</title> <bold>Purpose:</bold> Immunodysregulation, Polyendocrinopathy, Enteropathy, and X-linked syndrome (IPEX), caused by <italic>FOXP3</italic> mutations, is a rare autoimmune disorder with diverse clinical features, including early-onset diabetes, eczema, enteropathy. Atypical cases show milder symptoms unique signs, requiring different treatments. Therefore, there are ambiguities in the accurate diagnosis management of IPEX. We sought to present clinical, genetic,...
Background and aims: Patients with respiratory failure treated HMV are increasing. Aims: were examined to understand effect of on their life growth. Methods: The medical records reviewed. Results: Sixty two patients an average age 3.1 years detected. six percent below the one year age. most common indications for central nervous system disorders muscle-peripheral nerve diseases (91%). Twenty eight (45%) admitted emergency clinic 66 times after discharge various complaints, which fever...