Yazar "Aydoğmuş, Çiğdem" seçeneğine göre listele

Listeleniyor 1 - 7 / 7
  • Küçük Resim
    Öğe
    A novel homozygous six base pair deletion found in the NFATC2 gene in a patient with EBV-associated lymphoproliferation
    (2024) Erman, Baran; Köstel Bal, Sevgi; Aydoğmuş, Çiğdem; Ersoy, Gizem Zengin; Boztuğ, Kaan
    ...
  • Küçük Resim
    Öğe
    A rare clinical finding in ataxia telangiectasia: granulomatous skin lesion
    (2024) Naiboğlu, Sezin; Ulaş, Selami; Turan, Işılay; Çipe, Funda Erol; Gürbüz, Begüm Çalım; Aydoğmuş, Çiğdem
    ...
  • Küçük Resim
    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
    ...
  • [ X ]
    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, İlhan
    Since 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 rs104894286
  • Küçük Resim
    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, İlhan
    Molecular 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.
  • [ X ]
    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, Haluk
    Background 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.
  • [ X ]
    Öğe
    Primary immunodeficiencies: HSCT experiences of a single center in Turkey
    (Pediatric Transplantation, 2021) Cipe, Funda Erol; Aydoğdu, Selime; Dikme, Gürcan; Kıykım, Ayça; Aydoğmuş, Çiğdem; Yücel, Esra; Bozkurt, Ceyhun; Fışgın, Tunç
    Background Primary immunodeficiency diseases (PID) are characterized by the occurrence of frequent infections and are caused by many genetic defects. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment option for the majority of PID. As a Pediatric Hematology-Oncology-Immunology Transplantation Unit, we wanted to present our HSCT experience regarding treatment of primary immunodeficiency diseases. Methods 58 patients were included in the study between January 2014 and June 2019. We searched 9/10 or 10/10 matched-related donor (MRD) firstly, in the absence of fully matched-related donor. We screened matched unrelated donor (MUD) from donor banks. MRD was used in 24 (41.3%) patients, MUD in 20 (34.4%) patients, and haploidentical donors in 14 (24.1%) patients. Demographic data, HSCT characteristics, and outcome were evaluated. While 16 patients had severe combined immunodeficiency (SCID), the remaining was non-SCID. Results Of the 58 patients, 38 were male and 20 were female. Median age at transplantation was 12 months (range: 2.5–172 months). Combined immunodeficiencies consisted 67.2% of patients. Mean follow-up time was 27 months (6 months–5 years). Median neutrophil, lymphocyte, and thrombocyte engraftment days were similar in comparison of both donor type and stem cell source. The most common complication was acute GvHD in 15 (25.8%) patients. In total, five patients (31%) belonging to the SCID group and 10 patients (23.8%) belonging to the non-SCID group died. Our total mortality rate was 15 (25.8%) in all patients. Conclusions We would like to present our HSCT experiences as a pediatric immunology transplantation center. Existing severe infections before transplantation period, BCGitis, and CMV are important issues of transplantation in Turkey. However, the follow-up time is shorter than some studies, our results regarding complications and survival are similar to previous reports.