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    Clinical and Immunological Characterizations in Eleven Turkish Patients with Autosomal Recessive Hyper Ige Syndrome Caused by DOCK8 Mutation
    (SPRINGER/PLENUM PUBLISHERS, 2014) Gulez, Nesrin; Keles, Sevgi; Genel, Ferah; Chatila, Talal A.
    [Abstract not Available]
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    Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: Implications for pathogenesis and potential detection by newborn screening
    (ACADEMIC PRESS INC ELSEVIER SCIENCE, 2011) Dasouki, Majed; Okonkwo, Kingsley C.; Ray, Abhishek; Folmsbeel, Caspian K.; Gozales, Diana; Keles, Sevgi; Puck, Jennifer M.
    Loss of function of DOCK8 is the major cause of autosomal recessive hyper IgE syndrome, a primary immunodeficiency with adaptive and innate immune dysfunction. Patients affected with ARHIES have atopic dermatitis and recurrent, potentially life-threatening viral and bacterial infections. Three consanguineous Pakistani siblings presented with severe atopic dermatitis and superinfection. Direct sequencing of DOCK8 in all three affected siblings demonstrated homozygosity for a deleterious, novel exon 14 frame shift mutation. Current newborn screening for severe combined immunodeficiency syndrome (SCID) and related T cell disorders relies on the quantitation of T Cell Receptor Excision Cells (TRECs) in dried blood spots (DBS). Significantly, both older affected siblings had undetectable TRECs, and TREC copy number was reduced in the youngest sibling. These findings suggest that AR-HIES may be detected by TREC newborn screening, and this diagnosis should be considered in the evaluation of newborns with abnormal TRECs who do not have typical SCID. (C) 2011 Elsevier Inc. All rights reserved.
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    DOCK8 Deficiency and Diagnostic Guidelines for Hyper-IgE Syndromes -- 2
    (SPRINGER/PLENUM PUBLISHERS, 2012) Engelhardt, Karin R.; Gertz, E. Michael; Keles, Sevgi; Schaeffer, Alejandro A.; Ceja, Ruben; Sassi, Atfa; Graham, Laura
    [Abstract not Available]
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    Would mean platelet volume/platelet count ratio be used as a novel formula to predict 22q11.2 deletion syndrome?
    (ALLERGY IMMUNOL SOC THAILAND, 2016) Gokturk, Bahar; Guner, Sukru Nail; Kara, Reyhan; Kirac, Mine; Keles, Sevgi; Artac, Hasibe; Zamani, Ayse Gul
    Background: The diagnosis of 22q11.2 deletion syndrome depends on a time-consuming and expensive method, fluorescence in situ hybridisation (FISH). Objectives: We aimed to determine new parameters which can aid for in the diagnosis of 22q11.2 deletion syndrome. Methods: Twenty two patients with 22q11.2 or 10p13 deletion were evaluated retrospectively. Results: Facial-dysmorphism and mental-motor retardation were detected in 100% of patients. Mean platelet (PLT) counts were lower (224,980 versus 354,000, p = 0.001), mean PLT volume (MPV) (9.95 versus 7.07, p = 0.002), and MPV/PLTx10(5) ratios (5.36 versus 2.08, p < 0.001) were higher in patients with 22q11.2 deletion compared with the control group. Area under the receiver-operator characteristic (ROC) curve was 0.864, sensitivity was 84.6%, specificity was 90.9%, positive predictive value (PPV) was 91.7%, and negative predictive value (NPV) was 83.3% when MPV was 8.6. Area under ROC curve was 0.864, sensitivity was 76.9%, specificity was 90.1%, PPV was 90.1%, and NPV was 76.3% when PLT was 265,500. Area under ROC curve was 0.906, sensitivity was 84.6%, specificity was 100%, PPV was 100%, and NPV was 84.6% when MPV/PLTx10(5) was 3.3. Expression of PLT surface markers which were not in the GPIb-V-IX receptor complex (CD61, CD41a) increased as the surface area increased, but markers which were in a complex (CD42a, CD42b) did not change. Conclusions: High MPV/PLT value can be a good predictor for the diagnosis of 22q11.2 deletion syndrome. We suggest that in patients with facial dysmorphism and retardation in neurodevelopmental milestones and if MPV >= 8.6fl, MPV/PLTx10(5) ratio >= 3.3 and PLT count <= 265,500/mm(3), the patients should be tested by FISH analysis to confirm the 22q11.2 deletion. If there are no macrothrombocytes, the 10p13 deletion should be tested in suspected cases.