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    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.
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    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 Available]
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    PLASMA LEPTIN, NEUROPEPTIDE Y, GHRELIN AND ADIPONECTIN LEVELS AND CAROTID ARTERY INTIMA MEDIA THICKNESS IN EPILEPTIC CHILDREN TREATED WITH VALPROATE
    (WILEY-BLACKWELL, 2011) Tokgoz, H.; Aydin, K.; Oran, B.; Kiyici, A.
    [Abstract not Available]