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Öğe Antiphospholipid antibodies in children with immune thrombocytopenic purpura(Wiley-Blackwell, 2016) Sahinkaya, S.; Tokgoz, H.; Caliskan, U.[Abstract Not Availabe]Öğe ANTIPHOSPHOLIPID ANTIBODIES IN PATIENTS WITH IMMUNE THROMBOCYTOPENIC PURPURA(Ferrata Storti Foundation, 2016) Sahinkaya, S.; Tokgoz, H.; Caliskan, U.[Abstract Not Availabe]Öğe Bone marrow necrosis and pulmonary thrombosis associated with antiphospholipid syndrome(Wiley-Blackwell, 2016) Tokgoz, H.; Caliskan, U.[Abstract Not Availabe]Öğe BONE MARROW NECROSIS AND PULMONARY THROMBOSIS ASSOCIATED WITH ANTIPHOSPHOLIPID SYNDROME(Pergamon-Elsevier Science Ltd, 2016) Tokgoz, H.; Caliskan, U.[Abstract Not Availabe]Öğe CD3G Gene Defects in Familial Autoimmune Thyroiditis(Wiley, 2014) Gokturk, B.; Keles, S.; Kirac, M.; Artac, H.; Tokgoz, H.; Guner, S. N.; Caliskan, U.The patients with CD3 deficiency can present with different clinical findings despite having the same homozygous mutation. We report three new CD3gamma-deficient siblings from a consanguineous family with a combined T-B+NK+ immunodeficiency and their variable clinical and cellular phenotypes despite the same homozygous mutation of the CD3G gene (c.80-1G>C). We also re-evaluate a previously reported non-consanguineous family with two CD3gamma-deficient siblings with the same mutation. The median age at diagnosis was 11years (14months-20years). We found all five patients to display autoimmunity: autoimmune thyroiditis (n=5), autoimmune haemolytic anaemia (n=2), immune thrombocytopenia (n=1), autoimmune hepatitis (n=1), minimal change nephrotic syndrome (n=1), vitiligo (n=1) and positive antinuclear antibodies (n=3) as well as high IgE (n=2) and atopic eczema (n=2). While CD3(+)TCR+T cell percentages were low in all patients, only one had lymphopenia and 3 had CD3(+)T cell lymphopenia. Strikingly, we report frequent and multiple autoimmunity in tested heterozygous carriers in both families (n=6; in 67%), and frequent autoimmunity in family members not available for testing (n=5, in 80%). The results suggest that CD3G should be studied as a candidate gene for autoimmunity and that CD3gamma deficiency should be considered among other primary immunodeficiencies with predominantly autoimmune manifestations.Öğe Congenital Factor VII Deficiency with Inhibitors to FVII: Report of two Cases(Wiley-Blackwell, 2017) Tokgoz, H.; Caliskan, U.; Blaizot, M. Giansily[Abstract Not Availabe]Öğe Haemophilia A Patient Who Was Admitted with Swelling in The Thigh Was Diagnosed With Femoral Artery Pseudoaneurysm(Wiley, 2015) Tokgoz, H.; Caliskan, U.[Abstract Not Availabe]Öğe THE IMPORTANCE OF SERUM GDF-15 LEVELS TO ASSESS IRON OVERLOAD IN PATIENTS WITH THALASSEMIA MAJOR(Ferrata Storti Foundation, 2017) Ucman, M.; Caliskan, U.; Tokgoz, H.[Abstract Not Availabe]Öğe Inhibitors to factor VII in congenital factor VII deficiency(Wiley-Blackwell, 2014) Batorova, A.; Mariani, G.; Kavakli, K.; de Saez, A. R.; Caliskan, U.; Karimi, M.; Pinotti, M.[Abstract Not Availabe]Öğe Innovative diagnostic tool based on Luminex technology to investigate antibodies directed against FVII(Wiley-Blackwell, 2011) Pfeiffer, C.; Lavigne-Lissalde, G.; Tokgoz, H.; Caliskan, U.; Schved, J. F.; Giansily-Blaizot, M.[Abstract Not Availabe]Öğe MPL W515 K MUTATION IN A PEDIATRIC CASE OF ESSENTIAL THROMBOCYTHEMIA PRESENTING WITH BUDD-CHIARI SYNDROME(Pergamon-Elsevier Science Ltd, 2016) Tokgoz, H.; Caliskan, U.; Kucukkaya, R.; Hancer, V. S.[Abstract Not Availabe]Öğe MUTATION ANALYSIS AND CLINICAL SPECTRUM IN PATIENTS WITH BERNARD SOULIER SYNDROME: A SINGLE CENTER EXPERIENCE(Ferrata Storti Foundation, 2015) Tokgoz, H.; Caliskan, U.; Pecci, A.[Abstract Not Availabe]Öğe NOVEL MUTATIONS AT GPIIB/GPIIIA GENES FROM TURKISH PATIENTS WITH GLANZMANN THROMBASTHENIA SYNDROME(Ferrata Storti Foundation, 2014) Ozkan, D. T.; Caliskan, U.; Akar, N.[Abstract Not Availabe]Öğe NOVEL MUTATIONS IN THE GPIIB GENE IN TURKISH CHILDREN WITH GLANZMANN THROMBASTHENIA(Ferrata Storti Foundation, 2014) Tokgoz, H.; Caliskan, U.; Akar, N.[Abstract Not Availabe]Öğe Spontaneous duodenal hematoma in a patient with Glanzmann's thrombasthenia(Wiley-Blackwell, 2013) Tokgoz, H.; Caliskan, U.[Abstract Not Availabe]Öğe SPONTANEOUS DUODENAL HEMATOMA IN A PATIENT WITH GLANZMANN'S THROMBASTHENIA(Ferrata Storti Foundation, 2013) Tokgoz, H.; Caliskan, U.[Abstract Not Availabe]Öğe SPONTANEOUS RUPTURE OF SPLEEN IN A CHILD WITH EWAN'S SYNDROME AND SYSTEMIC LUPUS ERYTHEMATOSUS(Ferrata Storti Foundation, 2012) Tokgoz, H.; Caliskan, U.; Atas, B.; Ozbek, O.[Abstract Not Availabe]Öğe SUCCESSFUL PROPHYLACTIC USE OF RECOMBINANT ACTIVATED FACTOR VII (RFVIIA) IN A PATIENT WITH CONGENITAL FVII DEFICIENCY AND INHIBITORS TO FVII(Ferrata Storti Foundation, 2012) Tokgoz, H.; Caliskan, U.; Lavigne-Lissalde, G.; Giansily-Blaizot, M.[Abstract Not Availabe]Öğe SUCCESSFUL USE OF FONDAPARINUX IN A CHILD WITH HEPARIN-INDUCED THROMBOCYTOPENIA, RELATED TO ANTIPHOSPHOLIPID SYNDROME AND PROTHROMBIN G20210A MUTATION(Ferrata Storti Foundation, 2012) Tokgoz, H.; Caliskan, U.; Demir, M.[Abstract Not Availabe]Öğe Sudden onset vision loss as an initial manifestation of elevated serum lipoprotein(a) levels(Wiley-Blackwell, 2016) Tokgoz, H.; Caliskan, U.; Okka, M.; Kerimoglu, H.; Bitirgen, G.[Abstract Not Availabe]
