Kurum Yazarı "Nepesov, Serdar" Makale Koleksiyonu İçin Listeleme
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Chronic neutropenia in childhood: Laboratory and clinical features
Nepesov, Serdar; Yaman, Yöntem; Elli, Murat; Bayram, Nihan; Özdilli, Kürşat; Ayaz, Akif; Anak, Sema (Springer India, 2022)Objectives To describe the clinical characteristics of patients with chronic neutropenia. Methods Data of 36 patients with chronic neutropenia, who were followed up in the authors' clinic between May 2013 and May 2020, ... -
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 ... -
Diagnosis of primary immunodeficiency diseases in pediatric patients hospitalized for recurrent, severe, or unusual infections
Nepesov, Serdar; Firtina, Sinem; Aygün, Fatma Deniz; Burtenece, Nihan; Cokuğraş, Haluk; Camcıoğlu, Yıldız (Codon Publications, 2022)Background: Primary immunodeficiency diseases (PID) usually presents itself with recurrent, severe, and unusual infections, along with autoimmunity and various other malignancies. But, the diversity of PID often makes the ... -
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 ... -
Genetic and clinical profiling of mendelian susceptibility to mycobacterial disease patients; singlecenter experience
Nepesov, Serdar; Fırtına, Sinem; Aygün, Fatma Deniz; Işıkgil, Betül; Çamcıoğlu, Yıldız; Kıykım, Ayça; Yücel, Esra; Kendir Demirkol, Yasemin; Ayaz, Akif (Istanbul University, 2022)Objective: Mendelian susceptibility to mycobacterial disease (MSMD) is a subgroup of primary immunodeficiencies which develops with the Bacille Calmette–Guérin (BCG) vaccine or non-tuberculous mycobacterial infections. The ... -
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). ... -
HLA - matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3-phosphatase mutation developed acute myeloid leukemia
Bayram, Nihan; Yaman, Yöntem; Elli, Murat; Özdilli, Kürşat; Nepesov, Serdar; Doğan, Mehmet Sait; Ayaz, Akif; Anak, Sema (Wiley, 2022)Background PNPK gene mutations result in DNA repair disorders and have a spectrum of neurodevelopmental manifestations. To date, cancer predisposition has not been described in patients with PNKP mutations. Observation ... -
Immune reconstitution inflammatory syndrome after hematopoietic stem cell transplantation in a FOXN1-deficient patient
Çorbalı, Osman; Gemici Karaaslan, Hatice Betül; Aydemir, Sezin; Önal, Pınar; Kendir Demirkol, Yasemin; Nepesov, Serdar; Kıykım, Ayça; Çokuğraş, Haluk (Lippincott Williams and Wilkins, 2023)The FOXN1 gene mutation is a unique disorder that causes the nude severe combined immunodeficiency phenotype. In patients with severe combined immunodeficiency, hematopoietic stem cell transplantation (HSCT) is life-saving ... -
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 ... -
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 ...