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Öğe Comparison of allogeneic stem cell transplantation results from related or unrelated donors in beta-thalassemia major(Nature Publishing Group, 2019) Aydoğdu, Selime; Mergen, Azize; Adaklı Aksoy, Başak; Çokluk, Mila N.; Dikme, Gürcan; Erol Cipe, Funda; Fışgın, Tunç; Bozkurt, CeyhunAlthough there have been significant improvements with conventional therapies in beta thalassemia major, hematopoietic stem cell transplantation is only curative therapy. Related donors are preferred to diminish transplant risks. In lack of identical related donor, identical unrelated donors are second best choice. In this study, thalassemia major patients transplanted from unrelated donors (MUD) were compared with thalassemic patients transplanted from relative donor (MRD) retrospectively.Öğe Comparison of hematopoietic stem cell transplantation results in patients with ?-thalassemia major from three different graft types(Taylor & Francis Online, 2021) Aydoğdu, Selime; Töret, Ersin; Adaklı Aksoy, Başak; Aydın, Muhammed Fatih; Erol Cipe, Funda; Bozkurt, Ceyhun; Fışgın, TunçAllogeneic hematopoietic stem cell transplantation (HSCT) is the curative therapy for ?-thalassemias that induces severe life-threatening complications. The human leukocyte antigen (HLA) registries and umbilical cord blood banks have carried out diligent searches to find matched unrelated donors (MUDs) for about 70.0% of patients from 2000 onwards. The chance of finding a non-sibling fully matched family donors is higher in some ethnic groups in which consanguineous marriages are common. We have studied and compared transplant complications and outcomes in different graft types (sibling, non-sibling family and unrelated). The non-sibling matched family donor (MFD) group consisted of four mothers, three fathers, five cousins, one paternal uncle and one paternal aunt. There was no significant difference in the mean transfused CD34+ cells, engraftment, median days of neutrophil and platelet recovery were achieved (p?>?0.05). The distribution of postttransplant complication did not show any significant difference between groups (p?>?0.05). In univariate analysis and multivarite analyses, age, gender, Pesaro risk group (I-II vs. III) and ABO incompatibilty demonstrated a significant difference in disease free survival (p?Öğe Comparison of turkish stem cell coordination center (TURKOK) with Istanbul university bone marrow bank (TRIS); A single center experience in match unrelated donors(Nature Publishing Group, 2019) Mergen, Azize; Aydoğdu, Selime; Adaklı Aksoy, Başak; Savcı, Yunus Emre; Dikme, Gürcan; Erol Cipe, Funda; Bozkurt, Ceyhun; Fışgın, TunçMatch family donors are the preferable options in allogenic stem cell transplant. However, in the absence of donor relatives match unrelated donors have been an option. In this study, the donor screening, transplant preparation phases of Turkish Stem Cell Coordination Center (TURKOK) and the İstanbul University Bone Marrow Bank (TRIS), were compared.Öğe Donor lymphocyte infusion administrations after allogeneic stem cell transplantations in pediatrics: a single center experience(Nature Publishing Group, 2019) Aydoğdu, Selime; Mergen, Azize; Adaklı Aksoy, Başak; Akbay, Hazal S.; Erol Cipe, Funda; Dikme, Gürcan; Fışgın, Tunç; Bozkurt, CeyhunLoss of chimerism is one of the major problems after allogeneic stem cell transplantation(SCT). Donor- lymphocyte infusions(DLI) are used as a treatment after taper or stopping immunosuppression. In this study, DLI experience in 20 patients with loss of chimerism after SCT due to various benign and malign hematological diseases was presented.Öğe Mutational landscape of severe combined immunodeficiency patients from Turkey(Wiley, 2020) Fırtına, Sinem; Ng, Yuk Yin; Ng, Özden Hatırnaz; Kıykım, Ayça; Aydıner, Elif; Nepesov, Serdar; Camcıoğlu, Yıldız; Sayar, Esra H.; Reisli, İsmail; Torun, Selda H.; Çöğürlü, Tuba; Uygun, Dilara; Şimşek, Işıl E.; Kaya, Ayşenur; Erol Cipe, Funda; Çağdaş, Deniz; Yücel, Esra; Çekiç, Şükrü; Uygun, Vedat; Barış, Safa; Özen, Ahmet; Özbek, Ugur; Sayitoglu, MugeSevere combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation sequencing (NGS) has recently enabled rapid identification of the molecular aetiology of SCID, which is crucial for prognosis and treatment strategies. We sought to identify the genetic aetiology of various phenotypes of SCIDs and assessed both clinical and immunologic characteristics associated with gene variants. An amplicon-based targeted NGS panel, which contained 18 most common SCID-related genes, was contumely made to screen the patients (n = 38) with typical SCID, atypical SCID or OMENN syndrome. Allelic segregations were confirmed for the detected gene variants within the families. In total, 24 disease-causing variants (17 known and 7 novel) were identified in 23 patients in 9 different SCID genes: RAG1 (n = 5), RAG2 (n = 2), ADA (n = 3), DCLRE1C (n = 2), NHEJ1 (n = 2), CD3E (n = 2), IL2RG (n = 3), JAK3 (n = 4) and IL7R (n = 1). The overall success rate of our custom-made NGS panel was 60% (39.3% for NK+ SCID and 100% for NK- SCID). Incidence of autosomal-recessive inherited genes is more frequently found in our cohort than the previously reported populations probably due to the high consanguineous marriages in Turkey. In conclusion, the custom-made sequencing panel was able to identify and confirm the previously known and novel disease-causing variants with high accuracy.Öğe A novel foxn1 variant is identified in two siblings with nude severe combined immunodeficiency(Springer/Plenum Publishers, 2019) Fırtına, Sinem; Erol Cipe, Funda; Ng, Yuk Yin; Kiykim, Ayça; Ng, Özden Hatırnaz; Sudutan, Tuğce; Aydoğmuş, Çiğdem; Barış, Safa; Öztürk, Gülyüz; Aydıner, Elif; Özen, Ahmet; Sayitoğlu, MügeSevere combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) caused by gene variants that lead to a failure of functional T cell development, with or without accompanying defects in the production of B and/or NK cells
