Search Results - "DOĞU, Figen"

Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity by Willmann, Katharina L., Klaver, Stefanie, Doğu, Figen, Santos-Valente, Elisangela, Garncarz, Wojciech, Bilic, Ivan, Mace, Emily, Salzer, Elisabeth, Domínguez Conde, Cecilia, Sic, Heiko, Májek, Peter, Banerjee, Pinaki P., Vladimer, Gregory I., Haskoloğlu, Şule, Gökalp Bolkent, Musa, Küpesiz, Alphan, Condino-Neto, Antonio, Colinge, Jacques, Superti-Furga, Giulio, Pickl, Winfried F., van Zelm, Menno C., Eibel, Hermann, Orange, Jordan S., Ikincioğulları, Aydan, Boztuğ, Kaan

“…Primary immunodeficiency disorders enable identification of genes with crucial roles in the human immune system. Here we study patients suffering from…”
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Pediatric Invasive Aspergillosis: a Retrospective Review of 59 Cases by Özen, Seval, Özdemir, Halil, Taşkin, Esra Çakmak, Arga, Gül, Konca, Hatice Kübra, Çakmakli, Hasan Fatih, Haskoloğlu, Şule, Okulu, Emel, Dinçaslan, Handan, İnce, Elif, İleri, Talia, Taçyildiz, Nurdan, Doğu, Figen, Evren, Ebru, Us, Ebru, Karahan, Zeynep Ceren, Fitöz, Suat, Kendirli, Tanıl, Kuloğlu, Zarife, Tutar, Ercan, İkincioğullari, Aydan, Ünal, Emel, Ertem, Mehmet, İnce, Erdal, Çiftçi, Ergin

“…Invasive aspergillosis (IA) is a major cause of morbidity and mortality. This study aimed to present our 10-year IA experience at a single center. Fifty-nine…”
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Clinical Features and Outcomes of 23 Patients with Wiskott- Aldrich Syndrome: A Single-Center Experience by Haskoloğlu, Şule, Öztürk, Ayşenur, Öztürk, Gökcan, Kostel Bal, Sevgi, İslamoğlu, Candan, Baskın, Kübra, Ceylaner, Serdar, Tufan Satıroğlu, Lale, Doğu, Figen, İkincioğulları, Aydan

“…Objective: Wiskott-Aldrich syndrome (WAS) is an X-linked primary immune deficiency characterized by microthrombocytopenia, eczema, and recurrent infections. We…”
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Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency by Aydin, Susanne E., Freeman, Alexandra F., Al-Herz, Waleed, Al-Mousa, Hamoud A., Arnaout, Rand K., Aydin, Roland C., Barlogis, Vincent, Belohradsky, Bernd H., Bonfim, Carmem, Bredius, Robbert G., Chu, Julia I., Ciocarlie, Oana C., Doğu, Figen, Gaspar, Hubert B., Geha, Raif S., Gennery, Andrew R., Hauck, Fabian, Hawwari, Abbas, Hickstein, Dennis D., Hoenig, Manfred, Ikinciogullari, Aydan, Klein, Christoph, Kumar, Ashish, Ifversen, Marianne R.S., Matthes, Susanne, Metin, Ayse, Neven, Benedicte, Pai, Sung-Yun, Parikh, Suhag H., Picard, Capucine, Renner, Ellen D., Sanal, Özden, Schulz, Ansgar S., Schuster, Friedhelm, Shah, Nirali N., Shereck, Evan B., Slatter, Mary A., Su, Helen C., van Montfrans, Joris, Woessmann, Wilhelm, Ziegler, John B., Albert, Michael H.

“…Biallelic variations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency with eczema, recurrent bacterial and viral infections,…”
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Pediatric Invasive Aspergillosis: A Retrospective Review of 59 Cases by ÖZEN, Seval, ÖZDEMİR, Halil, TAŞKIN, Esra ÇAKMAK, ARGA, Gül, KONCA, Hatice Kübra, ÇAKMAKLI, Hasan Fatih, HASKOLOĞLU, Şule, OKULU, Emel, DİNÇASLAN, Handan, İNCE, Elif, İLERİ, Talia, TAÇYILDIZ, Nurdan, DOĞU, Figen, EVREN, Ebru, US, Ebru, KARAHAN, Zeynep Ceren, FİTÖZ, Suat, KENDİRLİ, Tanıl, KULOĞLU, Zarife, TUTAR, Ercan, İKİNCİOĞULLARI, Aydan, ÜNAL, Emel, ERTEM, Mehmet, İNCE, Erdal, ÇİFTÇİ, Ergin

“…Invasive aspergillosis (IA) is an important cause of morbidity and mortality. In this study, we aimed to present our 10-year IA experience in a single center…”
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Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations by Touzot, Fabien, Kermasson, Laetitia, Jullien, Laurent, Moshous, Despina, Ménard, Christelle, Ikincioğullari, Aydan, Doğu, Figen, Sari, Sinan, Giacobbi-Milet, Vannina, Etzioni, Amos, Soulier, Jean, Londono-Vallejo, Arturo, Fischer, Alain, Callebaut, Isabelle, de Villartay, Jean-Pierre, Leblanc, Thierry, Kannengiesser, Caroline, Revy, Patrick

“…Telomeres are repetitive hexameric sequences located at the end of linear chromosomes. They adopt a lariat-like structure, the T-loop, to prevent them from…”
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Normal mean platelet volume and thrombocytopenia: It may still be Wiskott–Aldrich syndrome by Haskoloğlu, Şule, Öztürk, Gökcan, Baskın, Kübra, İslamoğlu, Candan, Doğu, Figen, İkincioğulları, Aydan

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The Determining Factors for Outcome of Pediatric Intensive Care Admitted Children After Stem Cell Transplantation by Öztürk, Musa, Botan, Edin, Gün, Emrah, Baskin, Avniye Kübra, İslamoğlu, Candan, Erkol, Gül Hatice, Havan, Merve, Çakmak, Fatih Hasan, Haskoloğlu, Şule, İleri, Talia, İnce, Elif, Doğu, Figen, Ertem, Mehmet, İkinciogullari, Aydan, Kendirli, Tanil

“…Requiring pediatric intensive care unit (PICU) admission relates to high mortality and morbidity in patients who received hematopoietic stem cell…”
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Early-onset inflammatory bowel disease and common variable immunodeficiency–like disease caused by IL-21 deficiency by Salzer, Elisabeth, MD, Kansu, Aydan, MD, Sic, Heiko, PhD, Májek, Peter, PhD, Ikincioğullari, Aydan, MD, Dogu, Figen E., MD, Prengemann, Nina Kathrin, MSc, Santos-Valente, Elisangela, MD, MSc, Pickl, Winfried F., PhD, Bilic, Ivan, PhD, Ban, Sol A, Kuloğlu, Zarife, MD, Demir, Arzu Meltem, MD, Ensari, Arzu, MD, Colinge, Jacques, PhD, Rizzi, Marta, PhD, Eibel, Hermann, PhD, Boztug, Kaan, MD

“…Background Alterations of immune homeostasis in the gut can result in development of inflammatory bowel disease (IBD). Recently, Mendelian forms of IBD have…”
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Junctional Epidermolysis Bullosa Linked to Homozygous Mutation in LAMC2 Gene: A Case Report With Eosinophil-Rich Inflammatory Infiltrate by Haskoloğlu, Şule, Öztürk, Gökcan, Deveci Demirbaş, Nazlı, Akal, Can, İslamoğlu, Candan, Baskın, Kübra, Heper, Aylin, Erdeve, Ömer, Ceylaner, Serdar, Doğu, Figen, İkincioğulları, Aydan

“…Junctional epidermolysis bullosa (JEB) is a rare, incurable, devastating, and mostly fatal congenital genetic disorder characterized by painful blistering of…”
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Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans by Cildir, Gökhan, Aba, Umran, Pehlivan, Damla, Tvorogov, Denis, Warnock, Nicholas I., Ipsir, Canberk, Arik, Elif, Kok, Chung Hoow, Bozkurt, Ceren, Tekeoglu, Sidem, Inal, Gaye, Cesur, Mahmut, Kucukosmanoglu, Ercan, Karahan, Ibrahim, Savas, Berna, Balci, Deniz, Yaman, Ayhan, Demirbaş, Nazli Deveci, Tezcan, Ilhan, Haskologlu, Sule, Dogu, Figen, Ikinciogulları, Aydan, Keskin, Ozlem, Tumes, Damon J., Erman, Baran

“…IKKα is a multifunctional serine/threonine kinase that controls various biological processes, either dependent on or independent of its kinase activity…”
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Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion by Tuna Kırsaçlıoğlu, Ceyda, Frohne, Alexandra, Kuloğlu, Zarife, Kristofersdottir, Isidora, Demir, Engin, Altuntaş, Cansu, Haskoloğlu, Zehra Şule, Çobanoğlu, Fatma Nazan, Kendirli, Tanıl, Özdemir, Halil, Özçakar, Zeynep Birsin, Savaş, Berna, Doğu, Figen, İkincioğulları, Aydan, Boztug, Kaan, Kansu, Aydan

“…The monogenic causes of very-early-onset inflammatory bowel disease (VEO-IBD) have been defined by genetic studies, which were usually related to primary…”
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T Regulatory Cells in Children with Atopic Dermatitis by Çiftçi, Ömer, Haskoloğlu, Zehra Şule, Güloğlu, Deniz, Çipe, Funda, Çiftçi, Aylin, Köse, Kenan, Doğu, Figen, İkincioğulları, Aydan

“…Objectives: The aim of this study was to examine peripheral blood CD4+CD25high+FOXP3+ regulatory T (Treg) cell levels in children with atopic dermatitis (AD)…”
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Clinical Features and HSCT Outcome for SCID in Turkey by Ikinciogullari, Aydan, Cagdas, Deniz, Dogu, Figen, Tugrul, Tuba, Karasu, Gulsum, Haskologlu, Sule, Aksoylar, Serap, Uygun, Vedat, Kupesiz, Alphan, Yildiran, Alisan, Gursel, Orhan, Ates, Can, Elhan, Atilla, Kansoy, Savas, Yesilipek, Akif, Tezcan, Ilhan

“…Severe combined immunodeficiency (SCID) is the most serious PID, characterized by T cell lymphopenia and lack of antigen-specific T cell and B cell immune…”
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Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes by Şıklar, Zeynep, de Franco, Elisa, Johnson, Matthew B, Flanagan, Sarah E, Ellard, Sian, Ceylaner, Serdar, Boztuğ, Kaan, Doğu, Figen, İkincioğulları, Aydan, Kuloğlu, Zarife, Kansu, Aydan, Berberoğlu, Merih

“…Monogenic diabetes represents a heterogeneous group of disorders resulting from a single gene defect leading to disruption of insulin secretion or a reduction…”
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Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation by Seidel, Markus G., MD, Böhm, Katrin, Cm, Dogu, Figen, MD, Worth, Austen, MD, Thrasher, Adrian, MD, Florkin, Benoit, MD, İkincioğulları, Aydan, MD, Peters, Anke, MD, Bakhtiar, Shahrzad, MD, Meeths, Marie, MD, Stepensky, Polina, MD, Meyts, Isabelle, MD, Sharapova, Svetlana O., MD, Gámez-Díaz, Laura, PhD, Hammarström, Lennart, MD, Ehl, Stephan, MD, Grimbacher, Bodo, MD, Gennery, Andrew R., MD

“…[...]the outcome of HSCT in patients with syndromes with predominant autoimmunity is unclear, given that target antigens of autoimmune reactions remain…”
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Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes by Bayram, Ozlem, Haskologlu, Sule, Bayrakoğlu, Deniz, Bal, Sevgi Kostel, Islamoglu, Candan, Cipe, Funda Erol, Kendirli, Tanil, Kursun, Nazmiye, Guner, Sukru Nail, Yildiran, Alisan, Bozdogan, Gunseli, Yuksek, Mutlu, Reisli, Ismail, Dalva, Klara, Aytekin, Caner, Boztug, Kaan, Dogu, Figen, Ikinciogullari, Aydan

“…Severe combined immunodeficiency is an inborn error of immunity characterized by impairments in the numbers and functions of T and B lymphocytes due to various…”
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Newborn screening for SCID: the very first prospective pilot study from Türkiye by Haskologlu, Sule, Kocak, Senem, Tufan, Lale Satiroglu, Aksoy, Fethiye Eken, Bastug, Dilan, Oner, Deniz Aslar, Islamoglu, Candan, Baskin, Kubra, Esenboga, Saliha, Acican, Deniz, Ceylaner, Serdar, Guner, Sukru Nail, Keles, Sevgi, Cagdas, Deniz, Reisli, Ismail, Tezel, Basak, Dogu, Figen, Tezcan, Ilhan, Ikinciogullari, Aydan

“…The measurement of T-cell receptor excision circle (TREC) is used for newborn screening (NBS) in dried blood spot (DBS) samples from Guthrie card for severe…”
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Expanding the nude SCID/CID phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations by Giardino, Giuliana, Sharapova, Svetlana O., Ciznar, Peter, Dhalla, Fatima, Maragliano, Luca, Radha Rama Devi, Akella, Islamoglu, Candan, Ikinciogullari, Aydan, Haskologlu, Sule, Dogu, Figen, Hanna-Wakim, Rima, Dbaibo, Ghassan, Chou, Janet, Cirillo, Emilia, Borzacchiello, Carla, Kreins, Alexandra Y., Worth, Austen, Rota, Ioanna A., Marques, José G., Sayitoglu, Muge, Firtina, Sinem, Mahdi, Moaffaq, Geha, Raif, Neven, Bénédicte, Sousa, Ana E., Benfenati, Fabio, Hollander, Georg A., Davies, E. Graham, Pignata, Claudio

“…© The Author(s) 2021. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing,…”
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Outcome of treosulfan‐based reduced‐toxicity conditioning regimens for HSCT in high‐risk patients with primary immune deficiencies by Haskoloğlu, Şule, Köstel Bal, Sevgi, İslamoğlu, Candan, Altun, Demet, Kendirli, Tanıl, Doğu, Esin Figen, İkincioğulları, Aydan

“…Introduction HSCT is the curative therapeutic option in PIDs. Due to the increase in survival rates, reduced‐toxicity conditioning regimens with treosulfan…”
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