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    Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans
    (Natl Acad Sciences, 2011) Meyers, Greta; Ng, Yen-Shing; Bannock, Jason M.; Lavoie, Aubert; Walter, Jolan E.; Notarangelo, Luigi D.; Kilic, Sara S.; Aksu, Guzide; Debre, Marianne; Rieux-Laucat, Frederic; Conley, Mary Ellen; Cunningham-Rundles, Charlotte; Durandy, Anne; Meffre, Eric
    Impaired immune functions leading to primary immunodeficiencies often correlate with paradoxical autoimmune complications; patients with hyper-IgM syndromes who are deficient in activation-induced cytidine deaminase (AID), which is required for classs-witch recombination and somatic hypermutation, are prone to develop autoimmune diseases. To investigate the impact of AID-deficiency on early B-cell tolerance checkpoints in humans, we tested by ELISA the reactivity of recombinant antibodies isolated from single B cells from AID-deficient patients. New emigrant/transitional and mature naive B cells from AID-deficient patients express an abnormal Ig repertoire and high frequencies of autoreactive antibodies, demonstrating that AID is required for the establishment of both central and peripheral B-cell tolerance. In addition, B-cell tolerance was further breached in AID-deficient patients as illustrated by the detection of anti-nuclear IgM antibodies in the serum of all patients. Thus, we identified a major and previously unsuspected role for AID in the removal of developing autoreactive B cells in humans.
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    Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry
    (Academic Press Inc Elsevier Science, 2022) Jamee, Mahnaz; Azizi, Gholamreza; Baris, Safa; Karakoc-Aydiner, Elif; Ozen, Ahmet; Kilic, Sara S.; Kose, Hulya
    Monogenic immune dysregulation diseases (MIDD) are caused by defective immunotolerance. This study was designed to increase knowledge on the prevalence and spectrum of MIDDs, genetic patterns, and outcomes in Middle East and North Africa (MENA). MIDD patients from 11 MENA countries (Iran, Turkey, Kuwait, Oman, Algeria, Egypt, United Arab Emirates, Tunisia, Jordan, Qatar, and Azerbaijan) were retrospectively evaluated. 343 MIDD patients (58% males and 42% female) at a median (IQR) age of 101 (42-192) months were enrolled. The most common defective genes were LRBA (23.9%), LYST (8.2%), and RAB27A (7.9%). The most prevalent initial and overall manifestations were infections (32.2% and 75.1%), autoimmunity (18.6% and 41%), and organomegaly (13.3% and 53.8%), respectively. Treatments included immunoglobulin replacement therapy (53%), hematopoietic stem cell transplantation (HSCT) (14.3%), immunosuppressives (36.7%), and surgery (3.5%). Twenty-nine (59.2%) patients survived HSCT. Along with infectious complications, autoimmunity and organomegaly may be the initial or predominant manifestations of MIDD.
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    Mannose-Binding Lectin Gene Polymorphism and Chronic Hepatitis B Infection in Children
    (Medknow Publications & Media Pvt Ltd, 2015) Erdemir, Gulin; Ozkan, Tanju B.; Ozgur, Taner; Budak, Ferah; Kilic, Sara S.; Onay, Huseyin
    Background/Aims: Mannose-binding lectin (MBL) is a member of innate immune system that activates complement system through lectin pathway. MBL deficiency is associated with susceptibility to infectious diseases. In this study, the relation between MBL gene polymorphism and chronic hepatitis B infection in children is evaluated. Patients and Methods: The study included 67 children with chronic hepatitis B and 99 healthy controls. The hepatitis B patients were divided into immuntolerant, chronic inactive, and treatment groups according to their laboratory findings. MBL gene codon 52, 54, and 57 polymorphisms were studied with polymerase chain reaction in all patients and controls. The associations of MBL gene polymorphism with clinical, laboratory, and histopathologic findings were evaluated. Results: Homozygous codon 54 polymorphism of MBL was found significantly higher in chronic hepatitis B patients than controls. Rate of the polymorphism was similar in all groups and, responsive and nonresponsive patients in the treatment group. Conclusions: The hepatitis B patients who are homozygous for codon 54 of MBL are prone to develop chronic infection. Longitudinal studies with larger groups are needed.
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    Mannose-Binding Lectin Gene Polymorphism and Chronic Hepatitis B Infection in Children
    (Medknow Publications & Media Pvt Ltd, 2015) Erdemir, Gulin; Ozkan, Tanju B.; Ozgur, Taner; Budak, Ferah; Kilic, Sara S.; Onay, Huseyin
    Background/Aims: Mannose-binding lectin (MBL) is a member of innate immune system that activates complement system through lectin pathway. MBL deficiency is associated with susceptibility to infectious diseases. In this study, the relation between MBL gene polymorphism and chronic hepatitis B infection in children is evaluated. Patients and Methods: The study included 67 children with chronic hepatitis B and 99 healthy controls. The hepatitis B patients were divided into immuntolerant, chronic inactive, and treatment groups according to their laboratory findings. MBL gene codon 52, 54, and 57 polymorphisms were studied with polymerase chain reaction in all patients and controls. The associations of MBL gene polymorphism with clinical, laboratory, and histopathologic findings were evaluated. Results: Homozygous codon 54 polymorphism of MBL was found significantly higher in chronic hepatitis B patients than controls. Rate of the polymorphism was similar in all groups and, responsive and nonresponsive patients in the treatment group. Conclusions: The hepatitis B patients who are homozygous for codon 54 of MBL are prone to develop chronic infection. Longitudinal studies with larger groups are needed.
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    Mannose-Binding Lectin Gene Polymorphism and Chronic Hepatitis B Infection in Children
    (Medknow Publications & Media Pvt Ltd, 2015) Erdemir, Gulin; Ozkan, Tanju B.; Ozgur, Taner; Budak, Ferah; Kilic, Sara S.; Onay, Huseyin
    Background/Aims: Mannose-binding lectin (MBL) is a member of innate immune system that activates complement system through lectin pathway. MBL deficiency is associated with susceptibility to infectious diseases. In this study, the relation between MBL gene polymorphism and chronic hepatitis B infection in children is evaluated. Patients and Methods: The study included 67 children with chronic hepatitis B and 99 healthy controls. The hepatitis B patients were divided into immuntolerant, chronic inactive, and treatment groups according to their laboratory findings. MBL gene codon 52, 54, and 57 polymorphisms were studied with polymerase chain reaction in all patients and controls. The associations of MBL gene polymorphism with clinical, laboratory, and histopathologic findings were evaluated. Results: Homozygous codon 54 polymorphism of MBL was found significantly higher in chronic hepatitis B patients than controls. Rate of the polymorphism was similar in all groups and, responsive and nonresponsive patients in the treatment group. Conclusions: The hepatitis B patients who are homozygous for codon 54 of MBL are prone to develop chronic infection. Longitudinal studies with larger groups are needed.
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    The Prevalances and Patient Characteristics of Primary Immunodeficiency Diseases in Turkey-Two Centers Study
    (Springer/Plenum Publishers, 2013) Kilic, Sara S.; Ozel, Mustafa; Hafizoglu, Demet; Karaca, Neslihan Edeer; Aksu, Guzide; Kutukculer, Necil
    Purpose Primary immunodeficiency diseases (PIDs) are inherited disorders of the immune system resulting in increased susceptibility to unusual infections and predisposition to autoimmunity and malignancies. The European Society for Immunodeficiencies (ESID) has developed an internet-based database for clinical and research data on patients with PID. This study aimed to provide a minimum estimate of the prevalence of each disorder and to determine the clinical characteristics and outcomes of patients with PID in Turkey. Methods Clinical features of 1435 patients with primary immunodeficiency disorders are registered in ESID Online Patient Registry by the Pediatric Immunology Departments of the Medical Faculties of Uludag University and Ege University Between 2004 and 2010. These two centers are the major contributors reporting PID patients to ESID database from Turkey. Results Predominantly antibody immunodeficiency (73.9 %) was the most common category followed by autoinflammatory disorders (13.3 %), other well defined immunodeficiencies (5.5 %), congenital defects of phagocyte number, function or both (3.5 %), combined T and B cell immunodeficiencies (2 %), defects in innate immunity (1 %), and diseases of immune dysregulation (0.7 %) and complement deficiencies (0.4 %). Patients between 0 and 18 years of age constitued 94 % of total and the mean age was 9.2 +/- 6 years. The consanguinity rate within the registered patients was 14.3 % (188 of 1130 patients). The prevalance of all PID cases ascertained from the registry was 30.5/100.000. The major cause of the mortality was severe infection which was seen in forty-two of seventy five deceased patients. The highest mortality was observed in patients with severe combined immunodeficiencies and ataxia-telangiectasia. Conclusion Promoting the awareness of PID among the medical professionals and the general public is required if premature death and serious morbidity occurs due to late diagnosis of the wider spectrum of PID are to be avoided.
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    Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea
    (Oxford Univ Press Inc, 2017) Petersen, Britt-Sabina; August, Dietrich; Abt, Renate; Alddafari, Moudjahed; Atarod, Lida; Baris, Safa; Bhavsar, Hemant; Brinkert, Florian; Buchta, Mary; Bulashevska, Alla; Chee, Ronnie; Cordeiro, Ana I.; Dara, Naghi; Duckers, Gregor; Elmarsafy, Aisha; Frede, Natalie; Galal, Nermeen; Gerner, Patrick; Glocker, Erik-Oliver; Goldacker, Sigune; Hammermann, Jutta; Hasselblatt, Peter; Havlicekova, Zuzana; Hubscher, Katrin; Jesenak, Milos; Karaca, Neslihan E.; Karakoc-Aydiner, Elif; Kharaghani, Mahboubeh M.; Kilic, Sara S.; Kiykim, Ayca; Klein, Christoph; Klemann, Christian; Kobbe, Robin; Kotlarz, Daniel; Laass, Martin W.; Leahy, T. Ronan; Mesdaghi, Mehrnaz; Mitton, Sally; Neves, Joao F.; Ozturk, Birol; Pereira, Luis F.; Rohr, Jan; Restrepo, Jessica L. R.; Ruzaike, Gunda; Saleh, Nadia; Seneviratne, Suranjith; Senol, Ebru; Speckmann, Carsten; Tegtmeyer, Daniel; Thankam, Paul; ten Bosch, Jutte Van der Werff; von Bernuth, Horst; Zeissig, Sebastian; Zeissig, Yvonne; Franke, Andre; Grimbacher, Bodo
    Background: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients. Methods: We selected 28 genes of interest associated with monogenic IBD and performed targeted panel sequencing in 71 patients diagnosed with eoIBD or early-onset chronic diarrhea to detect causative variants. We compared these results to whole-exome sequencing (WES) data available for 25 of these patients. Results: Target coverage was significantly higher in the targeted gene panel approach compared with WES, whereas the cost of the panel was considerably lower (approximately 25% of WES). Disease-causing variants affecting protein function were identified in 5 patients (7%), located in genes of the IL10 signaling pathway (3), WAS (1), and DKC1 (1). The functional effects of 8 candidate variants in 5 additional patients (7%) are under further investigation. WES did not identify additional causative mutations in 25 patients. Conclusions: Targeted gene panel sequencing is a fast and effective screening method for monogenic causes of eoIBD that should be routinely established in national referral centers.
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    Wiskott-Aldrich Syndrome: A Retrospective Study on 575 Patients Analyzing the Impact of Splenectomy, Stem Cell Transplantation, or No Definitive Treatment on Frequency of Disease-Related Complications and Physician-Perceived Quality of Life
    (Amer Soc Hematology, 2016) Glasmacher, Jannik S.; Bittner, Tanja C.; Ochs, Hans D.; Aiuti, Alessandro; Arkwright, Peter D.; Balashov, Dmitry; Behrends, Uta; Belohradsky, Bernd H.; Bertoni, Elisa; Buchbinder, David K.; Browning, Michael; Bondarenko, Anastasiia; Candotti, Fabio; Cattoni, Alessandro; Chernyshova, Liudmyla; Chewning, Joseph H.; Ciznar, Peter; Cole, Theresa; Costa-Carvalho, Beatriz T.; Czogala, Wojciech; Dueckers, Gregor; Edgar, David M.; Erbey, Fatih; Fasth, Anders; Formankova, Renata; Freiberger, Tomas; Gambineri, Eleonora; Gennery, Andrew; Goldman, Frederick D.; Gonzalez-Granado, Luis I.; Gulmaraes, Tiago N.; Hagin, David; Hauck, Fabian; Heiskanen-Kosma, Tarja; Hoenig, Manfred; Juntti, Hanna; Kanegane, Hirokazu; Kainulainen, Leena; Karaca, Neslihan E.; Kilic, Sara S.; Klein, Christoph; Koltan, Sylwia; Kondratenko, Irina; Liu, Dawei; Matthes, Susanne; Mazzucchelli, Juliana T. L.; Meyts, Isabelle; Misbah, Siraj; Nademi, Zohreh; Nasrullayeva, Gulnara; Notarangelo, Lucia D.; Soler-Palacin, Pere; Pashchenko, Olga; Pasic, Srdjan; Pellier, Isabelle; Pignata, Claudio; Roepstorff, Camilla; Schuetz, Catharina; Schulz, Ansgar S.; Segundo, Gesmar R. S.; Shcherbina, Anna; Smart, Joanne; Sokolic, Robert A.; Stepensky, Polina; Torgerson, Troy; Vakhlyarskaya, Svetlana; van Montfrans, Joris; Vettenranta, Kim; Wolska-Kusnierz, Beata; Zhao, Xiaodong; Ziegler, John B.; Zhang, Xuan; Albert, Michael H.