Scopus İndeksli Yayınlar Koleksiyonu
Permanent URI for this collectionhttps://hdl.handle.net/20.500.12573/395
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Article A Novel ELF4 Gene Variant Disrupts T and NK Cell Function in a Patient with Immune Thrombocytopenia (ITP)(Springer Basel AG, 2026) Kendirli, Perihan Kader; Gök, Veysel; Eken, Ahmet; Özcan, Alper; Erdem, Şerife; Kısaarslan, Ayşenur Paç; Kayhan, EdaObjective and design In this report, we identified a novel hemizygous ELF4 variant (c.1822G > C; p.Gly608Arg) in an adolescent male with chronic immune thrombocytopenia (ITP) and performed functional immunologic characterization. Materials and methods Peripheral blood mononuclear cells (PBMCs) of the patient and age-matched controls were characterized by flow cytometry with respect to T cell phenotype, activation, proliferation and NK cell cytotoxicity. Results The p.Gly608Arg substitution affects a highly conserved residue in the C-terminal regulatory domain of ELF4 and is predicted to be damaging. Immunophenotyping showed an expanded CD8(+) T-cell compartment, an inverted CD4/CD8 ratio, reduced na & iuml;ve T-cell populations, and accelerated acquisition of memory-like phenotypes upon activation. Both CD4(+) and CD8(+) T cells displayed increased proliferation following TCR stimulation, consistent with impaired ELF4-dependent regulation of effector T-cell expansion. NK cells exhibited reduced granzyme B and perforin expression and markedly diminished cytotoxicity against K562 targets, indicating defects in maturation and effector function. Conclusions These findings suggest that the identified ELF4 variant is associated with combined T- and NK-cell dysfunction. This case expands the clinical spectrum of Deficiency in ELF4, X-linked and underscores the relevance of evaluating ELF4 mutations in patients with unexplained cytopenias accompanied by dysregulated lymphocyte activation and impaired cytotoxic responses.Article Citation - WoS: 7Citation - Scopus: 9Immunomagnetic Separation of B Type Acute Lymphoblastic Leukemia Cells from Bone Marrow With Flow Cytometry Validation and Microfluidic Chip Measurements(Taylor & Francis inc, 2020-10-22) Icoz, Kutay; Eken, Ahmet; Cinar, Suzan; Murat, Aysegul; Ozcan, Servet; Unal, Ekrem; Deniz, GunnurIn order to detect the blast cells from bone marrow of patients, one strategy is to first isolate the cells using immunomagnetic beads. The aim of this study was to report the experimental results of the immunomagnetic separation efficiency of the blast cells from bone marrow of pediatric leukemia patients. To test the efficiency of immunomagnetic separation, flow cytometry measurements at critical steps were performed. We here reported 94.5% capture efficiency for CD10 nano beads. Patients samples were also analyzed with a microfluidic chip to test the feasibility for further developments.