Browsing by Author "Kütükçüler, Necil"
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Item Differences in clinical outcome in patients with common variable immunodeficiency treated with Ig replacement therapy: Results from the ESID database(Mosby-Elsevier, 2011-02) Kindle, Gerhard; Warnatz, Klaus; Paschenko, O.; Kumararatne, Dinakantha; Thon, Vojtech; Witte, Torsten; Helbert, Matthew; Kuijpers, Taco W.; Exley, Andrew; Mahlaoui, Nizar; Notheis, Gundula; Longhurst, Hilary; Baumann, Ulrich; Jones, Alison; Kütükçüler, Necil; Borte, Michael; Wagstrom, Per; Feighery, C.; Szaflarska, Anna; Ritterbusch, Henrike; Reda, Shereen M.; Kononova, T. Ye; Panahloo, Zoya; Grimbacher, Bodo; Kılıç, Sara Şebnem; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; 0000-0001-8571-2581; AAH-1658-2021Item Differences in Ig replacement therapy dosing in patients with common variable immunodeficiency in europe: Results from the ESID database(Mosby-Elsevier, 2011-02) Gathmann, B.; Mahlaoui, Nizar; Warnatz, Klaus; Kuijpers, Taco W.; Thon, Vojtech; Arkwright, Peter D.; Kumararatne, Dinakantha; Exley, Andrew; Borte, Michael; Jones, Alison; Belohradsky, Bernd H.; Baumann, Ulrich; Kütükçüler, Necil; Witte, Torsten; Feighery, C.; Wagstrom, Per; Longhurst, Hilary; Linde, Richard; Ritterbusch, Henrike; Farmaki, E.; Sediva, Anna; Alataki, Efimia Papadopoulou; Panahloo, Zoya; Grimbacher, Bodo; Kılıç, Sara Şebnem; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; AAH-1658-2021Item The evaluation of malignancies in Turkish primary immunodeficiency patients; A multicenter study(Wiley, 2020-02-14) Metin, Ayşe; Aytekin, Caner; Karaca, Neslihan Edeer; Barış, Safa; Kıykım, Ayça; Aydıner, Elif Karakoç; Özen, Ahmet; Aksu, Güzide; Kütükçüler, Necil; Çekiç, Şükrü; Karalı, Yasin; Aslan, Törehan; Sevinir, Betül; Kılıç, Sara Şebnem; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları.; 0000-0002-9574-1842; 0000-0002-3966-4635; 0000-0003-4150-5200; FFS-1974-2022; AAH-1570-2021; 56117061000; 57188056500; 49863694000; 6603199915; 34975059200Background There are no data regarding the prevalence of malignancies in patients with primary immunodeficiency (PID) in Turkey. Along with the prevalence of malignancy, we aimed to present the types of malignancy and define the underlying immune deficiency of the patients. Method Between the years 1992 and 2018, from five tertiary immunology clinics, fifty-nine patients with PID who developed malignancy were included. All patients were evaluated for demographics, clinical features, and prognosis. Results The prevalence of malignancy in our cohort was detected as 0.9% (59/6392). The male-to-female ratio was 1.8 (38/21), and the median age of patients was 14 years (range: 1.5-51). The median age at diagnosis of malignancy was 10 years (range: 1.5-51). Ataxia-telangiectasia was the most frequent PID in patients with malignancy (n = 19, 32.2%), and non-Hodgkin lymphoma was the most common malignancy (n = 32, 51.6%). The rate of malignancy in DOCK8 deficiency (n = 7/43, 16.3%) was higher than AT (n = 19/193, 9.8%), Wiskott-Aldrich syndrome (n = 2/22, 9.1%), and common variable immunodeficiency (n = 11/205, 5.4%). EBV quantitative PCR was positive in 16 out of 53 patients (30.2%). Three patients had secondary malignancies. Remission was achieved in 26 patients (44.1%). However, 31 patients (52.5%) died. Two patients (3.4%) are still on chemotherapy. Conclusion This study is the largest cohort investigating the association of malignancy in patients with PID in Turkey. While lymphoid malignancies were the most common malignancy and observed more frequently in AT patients, the risk for malignancy was higher in patients with DOCK8 deficiency compared to AT.Item The prevalances and patient characteristics of primary immunodeficiency diseases in Turkey-two centers study(Springer/Plenum Publishers, 2013-01) Karaca, Neslihan Edeer; Aksu, Güzide; Kütükçüler, Necil; Kılıç, Sara Şebnem; Özel, Mustafa; Hafızoğlu, Demet; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik İmmünoloji Anabilim Dalı.; 0000-0001-8571-2581; AAH-1658-2021; 34975059200; 55356742500; 36711582000Purpose 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.Publication The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency(Mosby-Elsevier, 2015-08-01) Engelhardt, Karin R.; Gertz, Michael E.; Keleş, Sevgi; Schaeffer, Alejandro A.; Sigmund, Elena C.; Glocker, Cristina; Saghafi, Shiva; Pourpak, Zahra; Ceja, Ruben; Sassi, Atfa; Graham, Laura E.; Massaad, Michel J.; Mellouli, Fethi; Ben-Mustapha, Imen; Khemiri, Monia; Kılıç, Sara Şebnem; Etzioni, Amos; Freeman, Alexandra F.; Thiel, Jens; Schulze, Ilka; Al-Herz, Waleed; Metin, Ayse; Sanal, Oezden; Tezcan, Ilhan; Yeganeh, Mehdi; Niehues, Tim; Dueckers, Gregor; Weinspach, Sebastian; Patiroglu, Turkan; Ünal, Ekrem; Dasouki, Majed; Yılmaz, Mustafa; Genel, Ferah; Aytekin, Caner; Kütükçüler, Necil; Somer, Ayper; Kılıç, Mehmet; Reisli, Ismail; Camcioğlu, Yıldız; Gennery, Andrew R.; Cant, Andrew J.; Jones, Alison; Gaspar, Bobby H.; Arkwright, Peter D.; Pietrogrande, Maria C.; Baz, Zeina; Al-Tamemi, Salem; Lougaris, Vassilios; Lefranc, Gerard; Megarbane, Andre; Boutros, Jeannette; Galal, Nermeen; Bejaoui, Mohamed; Barbouche, Mohamed-Ridha; Geha, Raif S.; Chatila, Talal A.; Grimbacher, Bodo; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik İmmünoloji Anabilim Dalı.; AAH-1658-2021Background: Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical importance because of the difference in prognosis and management.Objectives: We sought to define the clinical features that distinguish DOCK8 deficiency from other forms of HIES and CIDs, study the mutational spectrum of DOCK8 deficiency, and report on the frequency of specific clinical findings.Methods: Eighty-two patients from 60 families with CID and the phenotype of AR-HIES with (64 patients) and without (18 patients) DOCK8 mutations were studied. Support vector machines were used to compare clinical data from 35 patients with DOCK8 deficiency with those from 10 patients with AR-HIES without a DOCK8 mutation and 64 patients with signal transducer and activator of transcription 3 (STAT3) mutations.Results: DOCK8-deficient patients had median IgE levels of 5201 IU, high eosinophil levels of usually at least 800/mu L (92% of patients), and low IgM levels (62%). About 20% of patients were lymphopenic, mainly because of low CD4(+) and CD8(+) T-cell counts. Fewer than half of the patients tested produced normal specific antibody responses to recall antigens. Bacterial (84%), viral (78%), and fungal (70%) infections were frequently observed. Skin abscesses (60%) and allergies (73%) were common clinical problems. In contrast to STAT3 deficiency, there were few pneumatoceles, bone fractures, and teething problems. Mortality was high (34%). A combination of 5 clinical features was helpful in distinguishing patients with DOCK8 mutations from those with STAT3 mutations.Conclusions: DOCK8 deficiency is likely in patients with severe viral infections, allergies, and/or low IgM levels who have a diagnosis of HIES plus hypereosinophilia and upper respiratory tract infections in the absence of parenchymal lung abnormalities, retained primary teeth, and minimal trauma fractures.