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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 CLINICAL FOLLOW-UP OF AN IRAK-4 DEFICIENT PATIENT DIAGNOSED AFTER SIBLING LOST DUE TO PSEUDOMONAS SEPSIS(Springer/Plenum Publishers, 2012) Kirac, M.; Gokturk, B.; Keles, S.; Chrabieh, M.; Casanova, J-L.; Puel, A.; Picard, C.[Abstract Not Availabe]Öğe Clinical, Laboratory Features and Outcomes of Patients with DOCK 8 Deficiency: Report of 6 Cases(Springer/Plenum Publishers, 2014) Haskologlu, S.; Dogu, F.; Keles, S.; Aytekin, C.; Reisli, I.; Ikinciogullari, A.; Chatila, T.[Abstract Not Availabe]Öğe Di George syndrome: clinical heterogeneity can hamper the diagnosis(Wiley-Blackwell, 2010) Gokturk, B.; Artac, H.; Keles, S.; Yyldyrym, S.; Kara, R.; Kirac, M.; Reisli, I[Abstract Not Availabe]Öğe DOCK8 DEFICIENCY AND A DIAGNOSTIC SCORE TO DIFFERENTIATE IT FROM OTHER HYPER-IGE SYNDROMES(Springer/Plenum Publishers, 2012) Engelhardt, K. R.; Gertz, E. M.; Keles, S.; Schaeffer, A. A.; Ceja, R.; Sassi, A.; Massaad, M. J.[Abstract Not Availabe]Öğe The Extended Clinical Phenotype of 58 Patients with Dock8 Deficiency(Springer/Plenum Publishers, 2014) Engelhardt, K. R.; Gertz, E. M.; Schaeffer, A. A.; Keles, S.; Sigmund, E. C.; Ceja, R.; Sassi, A.[Abstract Not Availabe]Öğe Incidence of severe combined immunodeficiency in Konya, Turkey(Wiley-Blackwell, 2012) Ismail, R.; Kirac, M.; Gokturk, B.; Artac, H.; Keles, S.[Abstract Not Availabe]Öğe Inhaled ?1-Antitrypsin Administered to Treat Pneumatocele in Autosomal Dominant Hyperimmunoglobulin E Syndrome(Esmon Publicidad S A, 2013) Karakoc-Aydiner, E.; Baris, S.; Keles, S.; Ozdemir, C.; Chatila, T.; Barlan, I.[Abstract Not Availabe]Öğe New prognostic laboratory parameters and use of intravenous immunglobulin G replacement for severe H1N1 infections(Medimond S R L, 2013) Gokturk, B.; Pekcan, S.; Emiroglu, Keser M.; Kirac, M.; Keles, S.; Guner, Sn; Artac, H.The appropriate treatment of severe pandemic H1N1 influenza, which was first identified in April 2009 in Mexico, is insufficient, especially in immunodeficient patients. We aimed to evaluate the features and prognostic factors of children with H1N1, and whether intravenous immunoglobulin G (IVIG) replacement can aid in facilitating a better outcome. Fifty-five hospitalized children with laboratory-confirmed H1N1 were evaluated retrospectively. The median age was 71 (1-216) months; and 65.4% had one or more underlying disorders. Thirty percent of the evaluated patients had one of the primary immunodeficiency disorders. Respiratory complications were seen in 72.7% of children. The mortality rate was 9%. Surprisingly, none of the six patients with primary immunodeficiency who were on regular IVIG replacement required intensive care unit admission or died. Eighty-three percent of patients who needed mechanical ventilation (p<0.001) and 27.7% of patients who needed oxygen support (p=0.002) died. The mortality rate of patients who admitted with neurological symptoms was higher (p=0.012, odds ratio: 17.25, confidence interval: 2.19-135.4). The mortality rate was significantly higher in patients with thrombocyte counts <165500/mm(3) (sensitivity: 79.6%, specificity: 83.3%) and with alanine aminotransferase (ALT) levels >50.5 U/L (sensitivity: 83.3%, specificity: 89.8%). Our study is important as it is the first to show the course in primary immunodeficient children with H1N1 infection who were on regular IVIG replacement. Thrombocytopenia, high ALT, neurologic symptoms, and hypoxia were detected as poor prognostic factors.Öğe NEW PROGNOSTIC LABORATORY PARAMETERS AND USE OF INTRAVENOUS IMMUNOGLOBULIN G REPLACEMENT FOR SEVERE H1N1 INFECTIONS IN CHILDREN(Springer/Plenum Publishers, 2012) Gokturk, B.; Pekcan, S.; Emiroglu, M.; Guner, S. N.; Kirac, M.; Keles, S.; Artac, H.[Abstract Not Availabe]Öğe RETROSPECTIVE EVALUATION OF PATIENTS WHO WERE FOLLOWED WITH THE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCY BETWEEN 2006-2011 IN KONYA(Springer/Plenum Publishers, 2012) Kinali, Y.; Reisli, I.; Gokturk, B.; Kirac, M.; Keles, S.[Abstract Not Availabe]Öğe THROMBOCYTE VOLUME AND COUNT IN DIGEORGE SYNDROME(Springer/Plenum Publishers, 2012) Gokturk, B.; Reisli, I.; Kirac, M.; Keles, S.; Artac, H.; Yildirim, S.[Abstract Not Availabe]
