Search Results - "İKİNCİOĞULLARI, Aydan"

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score by Tesch, Victoria Katharina, Abolhassani, Hassan, Shadur, Bella, Zobel, Joachim, Mareika, Yuliya, Sharapova, Svetlana, Karakoc-Aydiner, Elif, Rivière, Jacques G., Garcia-Prat, Marina, Moes, Nicolette, Haerynck, Filomeen, Gonzales-Granado, Luis I., Santos Pérez, Juan Luis, Mukhina, Anna, Shcherbina, Anna, Aghamohammadi, Asghar, Hammarström, Lennart, Dogu, Figen, Haskologlu, Sule, İkincioğulları, Aydan İ., Köstel Bal, Sevgi, Baris, Safa, Kilic, Sara Sebnem, Karaca, Neslihan Edeer, Kutukculer, Necil, Girschick, Hermann, Kolios, Antonios, Keles, Sevgi, Uygun, Vedat, Stepensky, Polina, Worth, Austen, van Montfrans, Joris M., Peters, Anke M.J., Meyts, Isabelle, Adeli, Mehdi, Marzollo, Antonio, Padem, Nurcicek, Khojah, Amer M., Chavoshzadeh, Zahra, Avbelj Stefanija, Magdalena, Bakhtiar, Shahrzad, Florkin, Benoit, Meeths, Marie, Gamez, Laura, Grimbacher, Bodo, Seppänen, Mikko R.J., Lankester, Arjan, Gennery, Andrew R., Seidel, Markus G.

“…Recent findings strongly support hematopoietic stem cell transplantation (HSCT) in patients with severe presentation of LPS-responsive beige-like anchor…”
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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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Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child by Ogishi, Masato, Yang, Rui, Aytekin, Caner, Langlais, David, Bourgey, Mathieu, Khan, Taushif, Ali, Fatima Al, Rahman, Mahbuba, Delmonte, Ottavia M., Chrabieh, Maya, Zhang, Peng, Gruber, Conor, Pelham, Simon J., Spaan, András N., Rosain, Jérémie, Lei, Wei-Te, Drutman, Scott, Hellmann, Matthew D., Callahan, Margaret K., Adamow, Matthew, Wong, Phillip, Wolchok, Jedd D., Rao, Geetha, Ma, Cindy S., Nakajima, Yuka, Yaguchi, Tomonori, Chamoto, Kenji, Williams, Samuel C., Emile, Jean-Francois, Rozenberg, Flore, Glickman, Michael S., Rapaport, Franck, Kerner, Gaspard, Allington, Garrett, Tezcan, Ilhan, Cagdas, Deniz, Hosnut, Ferda O., Dogu, Figen, Ikinciogullari, Aydan, Rao, V. Koneti, Kainulainen, Leena, Béziat, Vivien, Bustamante, Jacinta, Vilarinho, Silvia, Lifton, Richard P., Boisson, Bertrand, Abel, Laurent, Bogunovic, Dusan, Marr, Nico, Notarangelo, Luigi D., Tangye, Stuart G., Honjo, Tasuku, Gros, Philippe, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent

“…The pathophysiology of adverse events following programmed cell death protein 1 (PD-1) blockade, including tuberculosis (TB) and autoimmunity, remains poorly…”
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Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency by Ouederni, Monia, Sanal, Ozden, Ikincioğullari, Aydan, Tezcan, Ilhan, Dogu, Figen, Sologuren, Ithaisa, Pedraza-Sánchez, Sigifredo, Keser, Melike, Tanir, Gonul, Nieuwhof, Chris, Colino, Elena, Kumararatne, Dinakantha, Levy, Jacov, Kutukculer, Necil, Aytekin, Caner, Herrera-Ramos, Estefanía, Bhatti, Micah, Karaca, Neslihan, Barbouche, Ridha, Broides, Arnon, Goudouris, Ekaterini, Franco, José Luis, Parvaneh, Nima, Reisli, Ismail, Strickler, Alexis, Shcherbina, Anna, Somer, Ayper, Segal, Anthony, Angel-Moreno, Alfonso, Lezana-Fernandez, José Luis, Bejaoui, Mohamed, Valle, Miriam Bobadilla-Del, Kachboura, Salem, Sentongo, Timothy, Ben-Mustapha, Imen, Bustamante, Jacinta, Picard, Capucine, Puel, Anne, Boisson-Dupuis, Stéphanie, Abel, Laurent, Casanova, Jean-Laurent, Rodríguez-Gallego, Carlos

“…Owing to impaired interleukin 17 immunity, interleukin 12βR1 (IL-12βR1)–deficient patients have mucocutaneous candidiasis, which is usually recurrent or…”
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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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Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections by Dobbs, Kerry, Domínguez Conde, Cecilia, Zhang, Shen-Ying, Parolini, Silvia, Audry, Magali, Chou, Janet, Haapaniemi, Emma, Keles, Sevgi, Bilic, Ivan, Okada, Satoshi, Massaad, Michel J, Rounioja, Samuli, Alwahadneh, Adel M, Serwas, Nina K, Capuder, Kelly, Çiftçi, Ergin, Felgentreff, Kerstin, Ohsumi, Toshiro K, Pedergnana, Vincent, Boisson, Bertrand, Haskoloğlu, Şule, Ensari, Arzu, Schuster, Michael, Moretta, Alessandro, Itan, Yuval, Patrizi, Ornella, Rozenberg, Flore, Lebon, Pierre, Saarela, Janna, Knip, Mikael, Petrovski, Slavé, Goldstein, David B, Parrott, Roberta E, Savas, Berna, Schambach, Axel, Tabellini, Giovanna, Bock, Christoph, Chatila, Talal A, Comeau, Anne Marie, Geha, Raif S, Abel, Laurent, Buckley, Rebecca H, İkincioğulları, Aydan, Al-Herz, Waleed, Helminen, Merja, Doğu, Figen, Casanova, Jean-Laurent, Boztuğ, Kaan, Notarangelo, Luigi D

“…In this study, DOCK2 mutations were linked to an autosomal recessive form of congenital immunodeficiency and early-onset bacterial and viral infections…”
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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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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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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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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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Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets by Ma, Cindy S, Wong, Natalie, Rao, Geetha, Nguyen, Akira, Avery, Danielle T, Payne, Kathryn, Torpy, James, O'Young, Patrick, Deenick, Elissa, Bustamante, Jacinta, Puel, Anne, Okada, Satoshi, Kobayashi, Masao, Martinez-Barricarte, Ruben, Elliott, Michael, Sebnem Kilic, Sara, El Baghdadi, Jamila, Minegishi, Yoshiyuki, Bousfiha, Aziz, Robertson, Nic, Hambleton, Sophie, Arkwright, Peter D, French, Martyn, Blincoe, Annaliesse K, Hsu, Peter, Campbell, Dianne E, Stormon, Michael O, Wong, Melanie, Adelstein, Stephen, Fulcher, David A, Cook, Matthew C, Stepensky, Polina, Boztug, Kaan, Beier, Rita, Ikincioğullari, Aydan, Ziegler, John B, Gray, Paul, Picard, Capucine, Boisson-Dupuis, Stéphanie, Phan, Tri Giang, Grimbacher, Bodo, Warnatz, Klaus, Holland, Steven M, Uzel, Gulbu, Casanova, Jean-Laurent, Tangye, Stuart G

“…Naive CD4(+) T cells differentiate into specific effector subsets-Th1, Th2, Th17, and T follicular helper (Tfh)-that provide immunity against pathogen…”
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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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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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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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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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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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Lymphoma Secondary to Congenital and Acquired Immunodeficiency Syndromes at a Turkish Pediatric Oncology Center by Tanyildiz, Hikmet G., Dincaslan, Handan, Yavuz, Gulsan, Unal, Emel, Ikinciogulları, Aydan, Dogu, Figen, Tacyildiz, Nurdan

“…The prevalence of lymphoma in primary immunodeficiency cases and autoimmune diseases, as well as on a background of immunodeficiency following organ…”
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Scales of Magt1 Gene: Novel Mutations, Different Presentations by Haskologlu, Sule, Baskin, Kubra, Aytekin, Caner, Islamoglu, Candan, Ceylaner, Serdar, Dogu, Figen, Tacyildiz, Nurdan, Unal, Emel, Ikinciogullari, Aydan

“…Loss-of-function mutations in magnesium transporter 1 (MAGT1) gene cause X-linked magnesium deficiency with Epstein-Barr virus (EBV) infection and neoplasm…”
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