Browsing by Author "Kıykım, Ayça"
Now showing items 1-9 of 9
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Clinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis
Nepesov, Serdar; Yaman, Yöntem; Elli, Murat; Bayram, Nihan; Özdilli, Kürşat; Kıykım, Ayça; Çakır, Deniz; Kılıç, Betül; Aydın, Kürşad; Ayaz, Akif; Telhan, Leyla; Anak, Sema (AVES, 2022)Objectİive: In this study, we sought to describe the clinical, laboratory, and genetic characteristics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis ... -
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency
Kolukısa, Burcu; Başer, Dilek; Akçam, Bengü; Danielson, Jeffrey; Bilgiç Eltan, Sevgi; Haliloğlu, Yeşim; Sefer, Asena Pınar; Babayeva, Royale; Akgün, Gamze; Charbonnier, Louis-Marie; Schmitz-Abe, Klaus; Kendir Demirkol, Yasemin; Zhang, Yu; Gonzaga-Jauregui, Claudia; Heredia, Raul Jimenez; Kasap, Nurhan; Kıykım, Ayça; Özek Yücel, Esra; Gök, Veysel; Ünal, Ekrem; Paç Kısaarslan, Ayşenur; Nepesov, Serdar; Baysoy, Gökhan; Önal, Zerrin; Yeşil, Gözde; Celkan, Tülin Tiraje; Çokuğraş, Haluk; Camcıoğlu, Yıldız; Eken, Ahmet; Boztug, Kaan; Lo, Bernice; Karakoç Aydıner, Elif; Su, Helen C.; Özen, Ahmet; Chatila, Talal A.; Barış, Safa (Wiley, 2022)Background Biallelic loss-of-function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV-related smooth muscle tumors. Clinical and immunological ... -
Food-induced anaphylaxis in early childhood and factors associated with its severity
Aydoğan, Metin; Topal, Erdem; Yakıcı, Nalan; Acar, Hazal Cansu; Hızlı Demirkale, Zeynep; Arga, Mustafa; Uysal, Pınar; Aydemir, Sezin; Eser Şimşek, Işıl; Tamay, Zeynep; Çekiç, Şükrü; Çavkaytar, Özlem; Kaplan, Fatih; Kıykım, Ayça; Çoğurlu, Müjde Tuğba; Süleyman, Ayşe; Yücel, Esra; Akkelle, Emre; Hancıoğlu, Gonca; Yaşar, Adem; Tuncel, Tuba; Nacaroğlu, Hikmet Tekin; Aydoğmuş, Çiğdem; Güler, Nermin; Çokuğraş, Haluk; Sapan, Nihat; Yüksel, Hasan; Sancak, Recep; Erdoğan, Mehmet Sarper; Özdemir, Öner; Özdemir, Cevdet; Orhan, Fazıl (OceanSide Publications Inc., 2021)Background: Several factors that increase the risk of severe food-induced anaphylaxis have been identified. Objective: We aimed to determine the demographic, etiologic, and clinical features of food-induced anaphylaxis in ... -
Hematopoietic stem cell transplantation in patients with severe combined immunodeficiency: A single-center experience
Nepesov, Serdar; Yaman, Yöntem; Elli, Murat; Bayram, Nihan; Özdilli, Kürşat; Kıykım, Ayça; Anak, Sema (Istanbul University, 2022)Objective: The aim of this study was to determine the factors affecting outcomes in patients who underwent hematopoietic stem cell transplantation (HSCT) with the diagnosis of severe combined immunodeficiency (SCID). ... -
Impaired IL-23-dependent induction of IFN-gamma underlies mycobacterial disease in patients with inherited TYK2 deficiency
Ogishi, Masato; Augusto Arias, Andres; Yang, Rui; Han, Ji Eun; Zhang, Peng; Rinchai, Darawan; Halpern, Joshua; Mulwa, Jeanette; Keating, Narelle; Chrabieh, Maya; Laine, Candice; Seeleuthner, Yoann; Ramirez-Alejo, Noe; Nekooie-Marnany, Nioosha; Guennoun, Andrea; Muller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Kılıç, Sara Şebnem; Minegishi, Yoshiyuki; Ehl, Stephan; Kaiser-Labusch, Petra; Kendir-Demirkol, Yasemin; Rozenberg, Flore; Errami, Abderrahmane; Zhang, Shen-Ying; Zhang, Qian; Bohlen, Jonathan; Puel, Anne; Jouanguy, Emmanuelle; Pourmoghaddas, Zahra; Bakhtiar, Shahrzad; Willasch, Andre M.; Horneff, Gerd; Llanora, Genevieve; Shek, Lynette P.; Chai, Louis Y. A.; Tay, Sen Hee; Rahimi, Hamid H.; Mahdaviani, Seyed Alireza; Nepesov, Serdar; Bousfiha, Aziz A.; Erdeniz, Emine Hafize; Karbuz, Adem; Marr, Nico; Navarrete, Carmen; Adeli, Mehdi; Hammarstrom, Lennart; Abolhassani, Hassan; Parvaneh, Nima; Al Muhsen, Saleh; Alosaimi, Mohammed F.; Alsohime, Fahad; Nourizadeh, Maryam; Moin, Mostafa; Arnaout, Rand; Alshareef, Saad; El-Baghdadi, Jamila; Genel, Ferah; Sherkat, Roya; Kıykım, Ayça; Yücel, Esra; Keleş, Sevgi; Bustamante, Jacinta; Abel, Laurent; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie (Rockefeller University Press, 2022)Human cells homozygous for rare loss-of-expression (LOE) TYK2 alleles have impaired, but not abolished, cellular responses to IFN-alpha/beta (underlying viral diseases in the patients) and to IL-12 and IL-23 (underlying ... -
Inflammatory bowel disease and guillain barre syndrome in FCHO1 deficiency
Aydemir, Sezin; İşlek, Ali; Nepesov, Serdar; Yaman, Yöntem; Baysoy, Gökhan; Beşer, Ömer Faruk; Çullu Çokuğraş, Fügen; Barış, Safa; Karakoç Aydıner, Elif; Çokuğraş, Haluk; Hubrack, Satanay Z.; Kendir Demirkol, Yasemin; Lo, Bernice; Kıykım, Ayça; Özen, Ahmet (Springer, 2021)To the Editor: FCH And Mu Domain Containing Endocytic Adaptor 1 (FCHO1) gene encodes a protein that plays a critical role in clathrin-mediated endocytosis, a biological process that maintains cellular functions in signaling, ... -
Mutational landscape of severe combined immunodeficiency patients from Turkey
Fırtına, Sinem; Ng, Yuk Yin; Ng, Özden Hatırnaz; Kıykım, Ayça; Aydıner, Elif; Nepesov, Serdar; Camcıoğlu, Yıldız; Sayar, Esra H.; Reisli, İsmail; Torun, Selda H.; Çoğurlu, Tuba; Uygun, Dilara; Eser Şimşek, Işıl; Kaya, Ayşenur; Çipe, Funda; Çağdaş, Deniz; Yücel, Esra; Çekiç, Şükrü; Uygun, Vedat; Barış, Safa; Özen, Ahmet; Özbek, Uğur; Sayitoğlu, Müge (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 ... -
Primary antibody deficiencies in Turkey: Molecular and clinical aspects
Fırtına, Sinem; Ng, Yuk Yin; Ng, Özden Hatırnaz; Kıykım, Ayça; Yücel Özek, Esra; Kara, Manolya; Aydıner, Elif; Nepesov, Serdar; Camcıoğlu, Yıldız; Sayar, Esra Hazar; Güngören, Ezgi Yalçın; Reisli, İsmail; Hançerli Törün, Selda; Haskoloğlu, Şule; Çöğürlü, Tuba; Kaya, Ayşenur; Çekiç, Şükrü; Barış, Safa; Özbek, Uğur; Özen, Ahmet; Sayitoğlu, Müge (Humana Press Inc, 2022)Primary antibody deficiencies (PAD) are the most common subtype of primary immunodeficiencies, characterized by increased susceptibility to infections and autoimmunity, allergy, or malignancy predisposition. PAD syndromes ... -
Primary antibody deficiencies in Turkey: molecular and clinical aspects (Oct, 10.1007/s12026-021-09242-z, 2021)
Fırtına, Sinem; Ng, Yuk Yin; Ng, Özden Hatırnaz; Kıykım, Ayça; Yücel Özek, Esra; Kara, Manolya; Aydıner, Elif; Nepesov, Serdar; Camcıoğlu, Yıldız; Sayar, Esra Hazar; Güngören, Ezgi Yalçın; Reisli, İsmail; Hançerli Törün, Selda; Haskoloğlu, Şule; Çöğürlü, Tuba; Kaya, Ayşenur; Çekiç, Şükrü; Barış, Safa; Özbek, Uğur; Özen, Ahmet; Sayitoğlu, Müge (Humana Press Inc, 2022)The original published version of this article contained a mistake in one of the afliations. The correct afliation of author Manolya Kara (7) should read.