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Öğe B-Cell Maturation and Antibody Responses in Individuals Carrying a Mutated CD19 Allele(Nature Publishing Group, 2010) Artaç, Hasibe; Reisli, İsmail; Kara, R.; Pico-Knijnenburg, I.; Adın, Suzan Çınar; Pekcan, Sevgi; Jol-Van der Zijde, C. M.; Van Tol, M. J. D.; Bakker-Jonges, L. E.; Van Dongen, J. J. M.; Van der Burg, M.; Van Zelm, M. C.Homozygous CD19 mutations lead to an antibody deficiency due to disruption of the CD19 complex and consequent impaired signaling by the B-cell antigen receptor. We studied the effects of heterozygous CD19 mutations on peripheral B-cell development and antibody responses in a large family with multiple consanguineous marriages. Sequence analysis of 96 family members revealed 30 carriers of the CD19 mutation. Lymphocyte subset counts were not significantly different between carriers and noncarriers in three different age groups (0-10 years; 11-18 years; adults). B cells of carriers had reduced CD19 and CD21 median expression levels, and had reduced proportions of transitional (0-10 years) and CD5(+) B cells (adults). CD19 carriers did not show clinical signs of immunodeficiency; they were well capable to produce normal serum Ig levels and had normal responses to primary and booster vaccinations. The frequency of mutated V(kappa) alleles was not affected. Heterozygous loss of CD19 causes some changes in the naive B-cell compartment, but overall in vivo B-cell maturation or humoral immunity is not affected. Many antibody deficiencies are not monogenetic, but likely caused by a combination of multiple genetic variations. Therefore, functional analyses of immune cell function should be carried out to show whether heterozygous mutations contribute to disease.Öğe The change of lymphocytes subsets with age in children with transient hypogammaglobulinemia(WILEY-BLACKWELL PUBLISHING, INC, 2008) Artac, H.; Saglam, I; Kara, R.; Reisli, I[Abstract not Available]Öğe Consequences of heterozygous loss of CD19 expression(WILEY-BLACKWELL PUBLISHING, INC, 2008) Artac, H.; Reisli, I; Kara, R.; Cinar, Adin S.; Pico-Knijnenburg, I; Pekcan, S.; van Dongen, J. J. M.[Abstract not Available]Öğe Di George Syndrome: Clinical Heterogeneity Can Hamper the Diagnosis(Wiley-Blackwell, 2010) Göktürk, B.; Artaç, H.; Keleş, S.; Yıldırım, S.; Kara, R.; Kıraç, M.; Reisli, I.[Abstract not Available]Öğe Intravenous immunoglobulin modulates the expressions of Fas and CD25 in vivo in primary immunodeficiencies(BLACKWELL PUBLISHING, 2008) Artac, H.; Kara, R.; Reisli, L.[Abstract not Available]Öğe Retrospective evaluation of the patients who are followed with the diagnosis of primary immunodeficiency(WILEY-BLACKWELL PUBLISHING, INC, 2008) Artac, H.; Yorulmaz, A.; Kara, R.; Reisli, I[Abstract not Available]Öğe The spectrum of severe combined immunodeficiency in Konya, Turkey(WILEY-BLACKWELL PUBLISHING, INC, 2008) Reisli, I; Artac, H.; Kara, R.; Van den Elsen, P. J.; van der Burg, M.; van Dongen, J. M.[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]Öğe A village screening study for CD19 deficiency(WILEY-BLACKWELL PUBLISHING, INC, 2009) Reisli, I; Artac, H.; Pekcan, S.; Kara, R.; Yumlu, K.; Karagol, C.; Cimen, O.[Abstract not Available]
