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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 and genetic heterogeneity of hyper IgE syndrome in a Turkish cohort(WILEY-BLACKWELL PUBLISHING, INC, 2008) Keles, S.; Karakoc-Aydiner, E.; Ozdemir, C.; Reisli, I; Camcioglu, Y.; Somer, A.; Kutukculer, N.[Abstract not Available]Öğe DOCK8 deficiency and diagnostic guidelines for hyper-IgE syndromes(WILEY-BLACKWELL, 2012) Engelhardt, K.; Gertz, E.; Keles, S.; Schaeffer, A.; Ceja, R.; Sassi, A.; Graham, L.[Abstract not Available]Öğe The effects of meteorological parameters on the pollen amounts of Poaceae, Asteraceae, Chenopodiaceae/Amaranthaceae, Rumex and Plantago taxons determined in Konya city atmosphere in 2009(WILEY-BLACKWELL, 2010) Kizilpinar, I; Dogan, C.; Artac, H.; Gokturk, B.; Keles, S.; Reisli, I[Abstract not Available]Öğe Hyperimmunoglobulin E Syndrome Presenting With Renal Abscess(ESMON PUBLICIDAD S A, 2012) Yuksekkaya, H.; Ozbek, O.; Goncu, F.; Keser, M.; Hasibe, A.; Harun, P.; Keles, S.[Abstract not Available]Öğe Impaired Th17 differentiation is a common attribute of genetically distinct forms of the hyper IgE syndrome in a cohort of Turkish children(WILEY-BLACKWELL PUBLISHING, INC, 2009) Al-Khatib, S.; Keles, S.; Karakoc-Aydiner, E.; Reisli, I; Camcioglu, Y.; Somer, A.; Yilmaz, M.[Abstract not Available]Öğe The ischemia-modified albumin in childhood acute asthma exacerbation(WILEY-BLACKWELL, 2010) Karagol, C.; Kiyici, A.; Keles, S.; Artac, H.; Kirac, M.; Gokturk, B.; Reisli, I[Abstract not Available]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 Available]Öğe Transient hypogammaglobulinemia and unclassified hypogammaglobulinemia: 'similarities and differences' -- 2(WILEY-BLACKWELL, 2010) Keles, S.; Artac, H.; Kara, R.; Gokturk, B.; Ozen, A.; Reisli, I[Abstract not Available]
