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Öğe Correction to : Genetic evaluation of the patients with clinically diagnosed inborn errors of immunity by whole exome sequencing: results from a specialized research center for immunodeficiency in Türkiye(2024) Erman, Baran; Aba, Ümran; İpşir, Canberk; Pehlivan, Damla; Aytekin, Caner; Çildir, Gökhan; Çiçek, Begüm; Bozkurt, Ceren; Tekeoğlu, Sidem; Kaya, Melisa; Aydoğmuş, Çiğdem; Çipe, Funda; Sucak, Gülsan; Eltan, Sevgi Bilgiç; Özen, Ahmet; Barış, Safa; Karakoç-Aydıner, Elif; Kıykım, Ayça; Karaatmaca, Betül; Köse, Hülya; Kocacık Uygun, Dilara Fatma; Çelmeli, Fatih; Arıkoğlu, Tuğba; Özcan, Dilek; Keskin, Özlem; Arık, Elif; Soyak Aytekin, Elif; Cesur, Mahmut; Küçükosmanoğlu, Ercan; Kılıç, Mehmet; Yüksek, Mutlu; Bıçakçı, Zafer; Esenboğa, Saliha; Ayvaz, Deniz Çağdaş; Sefer, Asena Pınar; Güner, Şükrü Nail; Keleş, Sevgi; Reisli, İsmail; Muşabak, Uğur; Deveci Demirbaş, Nazlı; Haskoloğlu, Şule; Kılıç, Sara Şebnem; Metin, Ayşe; Doğu, Figen; İkincioğulları, Aydan; Tezcan, İlhan...Öğe Correction to: Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye (Journal of Clinical Immunology, (2024), 44, 7, (157), 10.1007/s10875-024-01759-w)(Springer, 2025) Erman, Baran; Aba, Ümran; İpşir, Canberk; Pehlivan, Damla; Aytekin, Caner; Çildir, Gökhan; Çiçek, Begüm; Bozkurt, Ceren; Tekeoğlu, Sidem; Kaya, Melisa; Aydoğmuş, Çiğdem; Çipe, Funda; Sucak, Gülsan; Eltan, Sevgi Bilgiç; Özen, Ahmet; Barış, Safa; Karakoç-Aydıner, Elif; Kıykım, Ayça; Karaatmaca, Betül; Köse, Hülya; Kocacık Uygun, Dilara Fatma; Çelmeli, Fatih; Arıkoğlu, Tuğba; Özcan, Dilek; Keskin, Özlem; Arık, Elif; Soyak Aytekin, Elif; Cesur, Mahmut; Küçükosmanoğlu, Ercan; Kılıç, Mehmet; Yüksek, Mutlu; Bıçakçı, Zafer; Esenboğa, Saliha; Ayvaz, Deniz Çağdaş; Sefer, Asena Pınar; Güner, Şükrü Nail; Keleş, Sevgi; Reisli, İsmail; Muşabak, Uğur; Deveci Demirbaş, Nazlı; Haskoloğlu, Şule; Kılıç, Sara Şebnem; Metin, Ayşe; Doğu, Figen; İkincioğulları, Aydan; Tezcan, İlhanSince the publication of this article we have noticed several errors within the main Table 1 of the manuscript. Four variants were given with different transcript IDs of the same gene. There are also 2 nomenclature errors in the variants of P58 and P117. The necessary corrections have been made in the table below. The errors do not affect the causality of the variants, the results or conclusions reported in the manuscript. The authors apologize for the error, and regret any inconvenience this may have caused. The original version has been corrected. (Table presented.) Patient no Clinical diagnosis (IUIS) Age Gender Consan Gene Variant Transcript ID Zygosity Consequence Novelty P18 CID 20 F + c.214G>A p.Gly72Ser NM_001199917.1 The true RefseqID should be NM_001199919.1 Hom Missense Novel P29 SCID 6 m F + c.551_555del p.Glu184Glyfs*2 c.241G>A p.Gly81Arg NM_000022.4 NM_000022.4 The true RefseqID should be NM_001322050 for these variants Comp. Het Out of frame/Deletion Missense Novel rs2065384316 P34 SCID 1 M + c.779A>G p.Glu260Gly NM_001322050 The true RefseqID should be NM_000022.4 for this variant Hom Missense rs1354071013 P58 SCID 2 M + c.1633delT p.Glu545AsnfsTer The correct nomenclature of this variant is c.1633del p.Glu545Asnfs*58 NM_001350965.2 Hom Out of frame/Deletion Novel P113 PAD/CVID 7 F + c.919C>T p.Arg307Trp NM_001372051.1 The true RefseqID should be NM_001080125.1 Hom Missense rs17860424 P117 SCID 1 F + c.2322G>A p.Arg737His The correct nomenclature of this variant is c.2210G>A p.Arg737His The nucleotide position 2322 refers an old transcript NM_000448.3 Hom Missense rs104894286Öğe Could the COVID-19 infection have a better prognosis than expected in pediatric hematology oncology and bone marrow transplant patients?(Scientific Letter, 2021) Öner, Özlem Başoğlu; Aksoy, Barış Adaklı; Sütçü, Murat; Çipe, Funda; Atça, Ali Önder; Bozkurt, Ceyhun; Fışgın, TunçCoronavirus disease 2019 (COVID-19) is a pandemic that spread rapidly worldwide (1). So far, very few reports concerning the impact of COVID-19 among patients with pediatric hematologic-oncologic diseases are available (2). We aimed to describe the clinical features, prevalence, treatments, and outcomes in the COVID-19 patient population.Öğe Evaluation of the risk factors for BK virus-associated hemorrhagic cystitis in pediatric bone marrow transplantation patients: Does post-transplantation cyclophosphamide increase the frequency?(2022) Ersoy, Gizem Zengin; Bozkurt, Ceyhun; Aksoy, Başak Adaklı; Öner, Özlem Başoğlu; Aydoğdu, Selime; Çipe, Funda; Sütçü, Murat; Özkaya, Ozan; Fışgın, TunçBackground: BKV-HC is one of the most significant complications of HSCT. This ret -rospective study aimed to determine the frequency of BKV-HC in pediatric patients undergoing HSCT, detect the associated risk factors for the development of BKV-HC, and explore the effects of post-transplantation Cy use.Methods: Three hundred twenty-seven patients (girls: 121, boys: 206) were analyzed according to sex, conditioning regimen, transplantation type, donor relatedness, stem cell source, the presence and grade of aGVHD, CMV co-existence, and Cy use.Results: Multivariate analysis confirmed the prognostic importance of age (OR: 4.865), TBI use, the presence of aGVHD (OR: 2.794), CMV coinfection (OR: 2.261), and Cy use (OR: 27.353). A statistically significant difference was found between the mean BKV-HC follow-up times compared with post-transplantation Cy intake (p< .001). The BKV-HC rate increased as the number of risk factors of the patient increased.Conclusion: BKV-HC is an essential complication of HSCT primarily associated with Cy use, the presence of aGVHD, and donor relatedness. The present study shows that the use of Cy in the post-transplantation period further increases BKV-HC risk in pediatric patients, regardless of dose.Öğe Genetic evaluation of the patients with clinically diagnosed inborn errors of immunity by whole exome sequencing: results from a specialized research center for immunodeficiency in Türkiye(2024) Erman, Baran; Aba, Ümran; İpşir, Canberk; Pehlivan, Damla; Aytekin, Caner; Çildir, Gökhan; Çiçek, Begüm; Bozkurt, Ceren; Tekeoğlu, Sidem; Kaya, Melisa; Aydoğmuş, Çiğdem; Çipe, Funda; Sucak, Gülsan; Eltan, Sevgi Bilgiç; Özen, Ahmet; Barış, Safa; Karakoç-Aydıner, Elif; Kıykım, Ayça; Karaatmaca, Betül; Köse, Hülya; Kocacık Uygun, Dilara Fatma; Çelmeli, Fatih; Arıkoğlu, Tuğba; Özcan, Dilek; Keskin, Özlem; Arık, Elif; Soyak Aytekin, Elif; Cesur, Mahmut; Küçükosmanoğlu, Ercan; Kılıç, Mehmet; Yüksek, Mutlu; Bıçakçı, Zafer; Esenboğa, Saliha; Ayvaz, Deniz Çağdaş; Sefer, Asena Pınar; Güner, Şükrü Nail; Keleş, Sevgi; Reisli, İsmail; Muşabak, Uğur; Deveci Demirbaş, Nazlı; Haskoloğlu, Şule; Kılıç, Sara Şebnem; Metin, Ayşe; Doğu, Figen; İkincioğulları, Aydan; Tezcan, İlhanMolecular diagnosis of inborn errors of immunity (IEI) plays a critical role in determining patients' long-term prognosis, treatment options, and genetic counseling. Over the past decade, the broader utilization of next-generation sequencing (NGS) techniques in both research and clinical settings has facilitated the evaluation of a significant proportion of patients for gene variants associated with IEI. In addition to its role in diagnosing known gene defects, the application of high-throughput techniques such as targeted, exome, and genome sequencing has led to the identification of novel disease-causing genes. However, the results obtained from these different methods can vary depending on disease phenotypes or patient characteristics. In this study, we conducted whole-exome sequencing (WES) in a sizable cohort of IEI patients, consisting of 303 individuals from 21 different clinical immunology centers in Türkiye. Our analysis resulted in likely genetic diagnoses for 41.1% of the patients (122 out of 297), revealing 52 novel variants and uncovering potential new IEI genes in six patients. The significance of understanding outcomes across various IEI cohorts cannot be overstated, and we believe that our findings will make a valuable contribution to the existing literature and foster collaborative research between clinicians and basic science researchers.Öğe Hepatocellular carcinoma in ADA-SCID patient after hematopoietic stem cell transplantation(2023) Uçku, Duygu; Armutlu, Ayşe; Çipe, Funda; Zengin Ersoy, Gizem; Karakaya, Afak Durur; Arıkan, ÇiğdemAdenosine deaminase (ADA) deficiency is one of the most prevalent forms of severe combined immunodeficiency and results in the accumulation of toxic substrates which creates a systemic metabolic disease. It predisposes patients to the development of malignancies, most commonly lymphoma. We report an 8-month-old infant with ADA deficient severe combined immunodeficiency who developed progressive liver dysfunction and hepatocellular carcinoma after successful hematopoietic stem cell transplantation. This is the first case report of an ADA-deficient patient who presented with hepatocellular carcinoma and gives an insight into the complex etiology that can lie behind liver dysfunction in these patients.Öğe Neurologic status of patients with purine nucleoside phosphorylase deficiency before and after hematopoetic stem cell transplantation(2023) Gemici Karaaslan, Betül; Turan, Işılay; Aydemir, Sezin; Akyüncü Meriç, Zeynep; Atay, Didem; Akçay, Arzu; Ayaz Sarı, Aysun; Hersfield, Michael; Çipe, Funda; Adaklı Aksoy, Başak; Zengin Ersoy, Gizem; Bozkurt, Ceyhun; Kendir Demirkol, Yasemin; Öztürk, Gülyüz; Aydoğmuş, Çiğdem; Kıykım, Ayça; Çokuğraş, HalukBackground Purine nucleoside phosphorylase (PNP) defciency is a rare autosomal recessive combined immunodefciency. The phenotype is profound T cell defciency with variable B and NK cell functions and results in recurrent and persistent infections that typically begin in the frst year of life. Neurologic fndings occur in approximately two-thirds of patients. The mechanism of neurologic abnormalities is unclear. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for PNP defciency. Methods We report here six patients from fve unrelated families with PNP defciency treated in two centers in Turkey. We evaluated the neurological status of patients and compared to post-transplantation period if available. Then, we performed PubMed, Google Scholar, and Researchgate searches using the terms “PNP” and “hematopoietic stem cell transplantation” to fnd all reported cases of PNP transplantation and compared to our cohort. Results Six patients were treated in two centers in Turkey. One patient died from post-transplant complications. The other four patients underwent successful HSCT with good immune reconstitution after transplantation (follow-up 21–48 months) and good neurological outcomes. The other patient with a new mutation is still waiting for a matching HLA donor. Discussion In PNP defciency, clinical manifestations are variable, and this disease should be considered in the presence of many diferent clinical fndings. Despite the comorbidities that occurred before transplantation, HSCT currently appears to be the only treatment option for this disease. HSCT not only cures immunologic disorders, but probably also improves or at least stabilizes the neurologic status of patients.Öğe The impact of Treosulfan-based conditioning for inborn errors of immunity: Is dose monitoring crucial?(2023) Ersoy, Gizem Zengin; Çipe, Funda; Fışgın, Tunç; Adaklı Aksoy, Başak; Başoğlu Öner, Özlem; Hashemi, Nazlı; Aydoğdu, Selime; Erdem, Melek; Dikme, Gürcan; Murat, Koza; Bozkurt, CeyhunIntroduction: In children with inborn errors of immunity (IEI) who will receive a hematopoietic stem cell transplant (HSCT) treosulfan-based conditioning is currently preferred. The aim of this study was to investigate early and late outcomes in pediatric IEI patients receiving pre-HSCT treosulfan and to examine the effect of treosulfan dose monitoring on outcomes. Methods: Seventy-three pediatric patients receiving this management between 2015 and 2022 were included. Results: Overall survival rate was 80%, and event-free survival was 67.8%. A larger treosulfan dose AUC after first application increased the rate of early toxicity (p = .034) and slowed lymphocyte engraftment (r = .290; p = .030). Underlying disease, treosulfan AUC, donor type, stem cell type, number of immunosuppressive agents, the dose of anti-thymocyte globulin, and post-transplantation cyclophosphamide did not to increase risk of acute graft-versus-host disease. The risk of mixed chimerism (MC) in patients with autoimmune lymphoproliferative syndrome and leukocyte adhesion deficiency were higher than those with severe combined immunodeficiency (p = .021 and p = .014, respectively). The risk of MC was lower in those receiving peripheral blood stem cells (SC) compared with bone marrow derived SC (OR = .204, p = .022). Conclusion: The AUC of the treosulfan dose was not associated with poorer late outcomes. Treosulfan is an agent that can be used safely in the IEI patient group, level measurement appears essential to identify early toxicities. Prospective studies with more extended follow-up periods are needed.Öğe The impact of treosulfan-based conditioning for primary immune deficiencies : single center experience(2023) Ersoy, Gizem Zengin; Çipe, Funda; Aksoy, Başak Adaklı; Hashemi, Nazlı; Öner, Özlem Başoğlu; Aydoğdu, Selime; Dikme, Gürcan; Erdem, Melek; Bozkurt, Ceyhun; Fışgın, Tunç...
