Royala Babayeva
A5031230302- Immunodeficiency and Autoimmune Disorders
- T-cell and B-cell Immunology
- Immune Cell Function and Interaction
- Blood disorders and treatments
- Signaling Pathways in Disease
- Cutaneous lymphoproliferative disorders research
- Diabetes and associated disorders
- Cytomegalovirus and herpesvirus research
- Genomics and Rare Diseases
- Digestive system and related health
- Congenital heart defects research
- Peptidase Inhibition and Analysis
- RNA modifications and cancer
- Biochemical and Structural Characterization
- Platelet Disorders and Treatments
- CAR-T cell therapy research
- Eosinophilic Esophagitis
- Biochemical and Molecular Research
- Tracheal and airway disorders
- IL-33, ST2, and ILC Pathways
- Chronic Lymphocytic Leukemia Research
- Blood groups and transfusion
- Pediatric health and respiratory diseases
- Cytokine Signaling Pathways and Interactions
- Congenital Ear and Nasal Anomalies
Marmara University
2022-2025
Jeffrey Modell Foundation
2025
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,...
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...
Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency and cytotoxic T-lymphocyte protein-4 (CTLA-4) insufficiency are recently described disorders that present with susceptibility to infections, autoimmunity, lymphoproliferation. Clinical immunological comparisons of the diseases long-term follow-up have not been previously reported. We sought compare clinical laboratory manifestations both investigate role flow cytometry in predicting genetic defect patients LRBA CTLA-4...
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...
Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new who demonstrated variable clinical penetrance. Reduced transcriptional activity pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated impaired T cell immunity. Corrective treatment was required 4/6 patients. Hematopoietic stem transplantation resulted poor immune reconstitution...
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...
Loss of function mutations in Diaphanous related formin 1 (DIAPH1) are associated with seizures, cortical blindness, and microcephaly syndrome (SCBMS) recently linked to combined immunodeficiency. However, the extent defects T innate lymphoid cells (ILCs) remain unexplored. Herein, we characterized primary T, natural killer (NK) helper ILCs six patients carrying two novel loss mutation DIAPH1 Jurkat after knockdown. Mutations were identified by whole exome sequencing. T-cell...
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...
The nuclear factor of activated T cells (NFAT) family transcription factors plays central roles in adaptive immunity murine models; however, their contribution to human immune homeostasis remains poorly defined. In a multigenerational pedigree, we identified 3 patients who carry germ line biallelic missense variants NFATC1, presenting with recurrent infections, hypogammaglobulinemia, and decreased antibody responses. compound heterozygous NFATC1 these caused stability reduced the binding DNA...