Browsing by Author "Firtina, Sinem"
Now showing items 1-11 of 11
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Biallelic form of a known CD3E mutation in a patient with severe combined immunodeficiency
Erman, Baran; Firtina, Sinem; Fisgin, Tunc; Bozkurt, Ceyhun; Erol Cipe, Funda (Springer/Plenum Publishers, 2020)T cell receptor (TCR) complex consists of αβ or γδ TCR chains in combination with four CD3 subunits, CD3ε, CD3γ, CD3δ, and CDζ [1]. This complex is required for thymocyte development and the initiation of T cell-mediated ... -
Clinical and immunological features of 44 common variable immunodeficiency patients: The experience of a single center in Turkey
Nepesov S.; Aygun F.D.; Firtina, Sinem; Cokugras H.; Camcioglu Y. (Elsevier Doyma, 2020)Introduction and objectives: Common variable immunodeficiency (CVID) is one of the most prevalent forms of primary immunodeficiency characterized by hypogammaglobinemia. Its heterogeneous clinical features include recurrent ... -
Expanding the nude SCID/CID phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations
Giardino, Giuliana; Sharapova, Svetlana O.; Ciznar, Peter; Dhalla, Fatima; Maragliano, Luca; Islamoglu, Candan; Firtina, Sinem (Springer Link, 2021)Human nude SCID is a rare autosomal recessive inborn error of immunity (IEI) characterized by congenital athymia, alopecia, and nail dystrophy. Few cases have been reported to date. However, the recent introduction of ... -
Invasive saprochaete capitata Infection in a patient with autosomal recessive CARD9 deficiency and a review of the literature
Erman, Baran; Firtina, Sinem; Aksoy, Basak Adakli; Aydogdu, Selime; Genc, Gonca Erkose; Dogan, Oner; Bozkurt, Ceyhun; Fisgin, Tunc; Erol Cipe, Funda (Springer/Plenum Publishers, 2020)Purpose Autosomal recessive (AR) CARD9 deficiency is an inherited immune disorder which results in impaired innate immunity against various fungi. Superficial and invasive fungal infections, mainly caused by Candida or ... -
Lymphoma predisposing gene in an extended family: CD70 signaling defect
Khodzhaev, Khusan; Bay, Sema Buyukkapu; Kebudi, Rejin; Altindirek, Didem; Kaya, Aysenur; Erbilgin, Yucel; Ng, Ozden Hatirnaz; Kiykim, Ayca; Erol Cipe, Funda; Sen Zengin, Feride; Firtina, Sinem; Ng, Yuk Yin; Aksoy, Basak Adakli; Sayitoglu, Muge (Springer/Plenum Publishers, 2020)Genome-wide sequencing studies in pediatric cancer cohorts indicate that about 10% of patients have germline mutations within cancer predisposition genes. Within this group, primary immune deficiencies take the priority ... -
Mutational landscape of severe combined immunodeficiency patients from Turkey
Firtina, Sinem; Ng, Yuk Yin; Ng, Ozden Hatirnaz; Kiykim, Ayca; Aydiner, Elif; Nepesov, Serdar; Camcioglu, Yildiz; Sayar, Esra H.; Reisli, Ismail; Torun, Selda H.; Cogurlu, Tuba; Uygun, Dilara; Simsek, Isil E.; Kaya, Aysenur; Erol Cipe, Funda; Cagdas, Deniz; Yucel, Esra; Cekic, Sukru; Uygun, Vedat; Baris, Safa; Ozen, Ahmet; Ozbek, Ugur; Sayitoglu, Muge (Wiley, 2020)Severe 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 ... -
A novel foxn1 variant is identified in two siblings with nude severe combined immunodeficiency
Firtina, Sinem; Erol Cipe, Funda; Ng, Yuk Yin; Kiykim, Ayca; Ng, Ozden Hatirnaz; Sudutan, Tugce; Aydogmus, Cigdem; Baris, Safa; Ozturk, Gulyuz; Aydiner, Elif; Ozen, Ahmet; Sayitoglu, Muge (Springer/Plenum Publishers, 2019)Severe 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 ... -
Prognostic evidence of LEF1 isoforms in childhood acute lymphoblastic leukemia
Erbilgin, Yucel; Hatirnaz Ng, Ozden; Can, Ismail; Firtina, Sinem; Kucukcankurt, Fulya; Karaman, Serap (WILEY, 2021)Introduction: The lymphoid enhancer factor 1 (LEF1) is a DNA-binding transcription factor that functions in the Wnt signaling pathway. Increased LEF1 activity is associated with progression of several types of cancer ... -
Prognostic gene alterations and clonal changes in childhood B-ALL
Erbilgin, Yucel; Firtina, Sinem; Mercan, Sevcan; Ng, Ozden Hatirnaz; Karaman, Serap; Tasar, Orcun; Karakas Zeybek, Didem; Celkan, Tulin Tiraje; Zenging, Emine; Sarperg, Nazan; Yildirmak, Zeynep Yildiz; Sisko, Sinem; Ozbek, Ugur; Sayitoglu, Muge (Pergamon-Elsevier Science Ltd, 2019)Genomic profiles of leukemia patients lead to characterization of variations that provide the molecular classification of risk groups, prediction of clinical outcome and therapeutic decisions. In this study, we examined ... -
PTEN and AKT1 variations in childhood T-Cell acute lymphoblastic leukemia
Kucukcankurt, Fulya; Erbilgin, Yucel; Firtina, Sinem; Ng, Ozden Hatirnaz; Karakas, Zeynep; Celkan, Tiraje; Unuvar, Aysegul; Ozbek, Ugur; Sayitoglu, Muge (Galenos Yayincilik, 2020)Objective: PTEN/AKT pathway deregulations have been reported to be associated with treatment response in acute leukemia. This study examined pediatric T-cell acute lymphoblastic leukemia (T-ALL) samples for PTEN and AKT1 ... -
Tanısı zor tek gen hastalıklarında hedefe yönelik yeni nesil dizileme panel tasarımı: primer immün yetersizlik örneği
Firtina, Sinem; Hatirnaz Ng, Ozden; Sayitoglu, Muge; Yin Ng, Yuk (DergiPark, 2020)Amaç: Yeni nesil dizileme teknolojileri bugün çok sayıda aday genin, genomun tüm kodlayan bölgelerinin hatta tüm genomun analizini tek seferde ve kısa süre içerisinde düşük maliyet ve yüksek hassasiyette, güvenilir bir ...
