Browsing by Author "Nepesov, Serdar"
Now showing items 1-14 of 14
-
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 efficacy of ruxolitinib monotherapy and haploidentical hematopoeitic stem cell transplantation in a child with philadelphia chromosome-like relapsed/refractory acute lymphoblastic leukemia
Bayram, Nihan; Yaman, Yöntem; Özdilli, Kürşat; Telhan, Leyla; Nepesov, Serdar; Bilgen, Hülya; Elli, Murat; Behar, Sude Sema; Anak, Sema (Wiley, 2021)Introduction (Ph-like) ALL is a subset of leukemia which has a gene expression profile similar to Ph+disease, but without the presence of BCR-ABL1 translocation. Case description We reported an exceptional case of a ... -
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 ... -
Eltrombopag for treatment of thrombocytopenia after allogeneic hematopoietic cell transplantation in children: Single-centre experience
Yaman, Yöntem; Elli, Murat; Şahin, Şifa; Özdilli, Kürşat; Bilgen, Hülya; Bayram, Nihan; Nepesov, Serdar; Anak, Sema (Wiley, 2021)Delayed recovery of thrombocytopenia is a well-known complication after allogeneic HSCT. Eltrombopag (ELT), a thrombopoietin receptor agonist (TRAs), induces platelet maturation and release. Mostly conducted in adults, ... -
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 ... -
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 ... -
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. -
SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of kawasaki disease?
Sancho-Shimizu, Vanessa; Brodin, Petter; Cobat, Aurelie; Biggs, Catherine M.; Toubiana, Julie; Lucas, Carrie L.; Henrickson, Sarah E.; Belot, Alexandre; Tangye, Stuart G.; Milner, Joshua D.; Levin, Michael; Abel, Laurent; Bogunovic, Dusan; Casanova, Jean-Laurent; Zhang, Shen-Ying; Nepesov, Serdar (Rockefeller University Press, 2021)Multisystem inflammatory syndrome in children (MIS-C) emerged in April 2020 in communities with high COVID-19 rates. This new condition is heterogenous but resembles Kawasaki disease (KD), a well-known but poorly understood ...
