Yazar "Kirac, M." seçeneğine göre listele

Listeleniyor 1 - 4 / 4
  • Küçük Resim Yok
    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.
  • Küçük Resim
    Öğe
    Clinical features and risk factors for childhood asthma exacerbations
    (WILEY-BLACKWELL, 2010) Karagöl, Cüneyt; Keleş, Sevgi; Göktürk, B.; Kirac, M.; Artaç, Hasibe; Reisli, İsmail
    [Abstract not Available]
  • Küçük Resim Yok
    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]
  • Küçük Resim Yok
    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]