B-Cell Maturation and Antibody Responses in Individuals Carrying a Mutated CD19 Allele
dc.contributor.author | Artaç, H. | |
dc.contributor.author | Reisli, İ. | |
dc.contributor.author | Kara, R. | |
dc.contributor.author | Pico-Knijnenburg, I. | |
dc.contributor.author | Adın-Çınar, S. | |
dc.contributor.author | Pekcan, S. | |
dc.contributor.author | Jol-Van der Zijde, C. M. | |
dc.contributor.author | Van Tol, M. J. D. | |
dc.contributor.author | Bakker-Jonges, L. E. | |
dc.contributor.author | Van Dongen, J. J. M. | |
dc.contributor.author | Van der Burg, M. | |
dc.contributor.author | Van Zelm, M. C. | |
dc.date.accessioned | 2020-03-26T17:47:14Z | |
dc.date.available | 2020-03-26T17:47:14Z | |
dc.date.issued | 2010 | |
dc.department | Selçuk Üniversitesi | en_US |
dc.description.abstract | 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. | en_US |
dc.description.sponsorship | Scientific and Technological Research Council of Turkey (TUBI-TAK)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK); Dutch Organization for Scientific Research (NWO/ZonMW)Netherlands Organization for Scientific Research (NWO)Netherlands Organization for Health Research and Development [916.56.107]; Erasmus University Rotterdam (EUR) | en_US |
dc.description.sponsorship | The authors are indebted to Mrs S Posthumus for technical support with the Ig kappa REHMA assay and Professor H Hooijkaas and his colleagues from the immunodiagnostic laboratory at the Erasmus MC for technical support with anti-nuclear antibody testing. This work was supported by a grant from the Scientific and Technological Research Council of Turkey (TUBI-TAK) to H Artac, a VENI grant (916.56.107) from the Dutch Organization for Scientific Research (NWO/ZonMW) to M van der Burg, and a grant from the Erasmus University Rotterdam (EUR-Fellowship) to MC van Zelm. | en_US |
dc.identifier.citation | Artaç, H., Reisli, İ., Kara, R., Pico-Knijnenburg, I., Adın-Çınar, S., Pekcan, S., 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., (2010). B-Cell Maturation and Antibody Responses in Individuals Carrying a Mutated CD19 Allele. Genes and Immunity, 11(7), 523-530. Doi: 10.1038/gene.2010.22; | |
dc.identifier.doi | 10.1038/gene.2010.22 | en_US |
dc.identifier.endpage | 530 | en_US |
dc.identifier.issn | 1466-4879 | en_US |
dc.identifier.issue | 7 | en_US |
dc.identifier.pmid | 20445561 | en_US |
dc.identifier.scopusquality | Q2 | en_US |
dc.identifier.startpage | 523 | en_US |
dc.identifier.uri | https://dx.doi.org/10.1038/gene.2010.22 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12395/24654 | |
dc.identifier.volume | 11 | en_US |
dc.identifier.wos | WOS:000283247900001 | en_US |
dc.identifier.wosquality | Q1 | en_US |
dc.indekslendigikaynak | Web of Science | en_US |
dc.indekslendigikaynak | Scopus | en_US |
dc.indekslendigikaynak | PubMed | en_US |
dc.institutionauthor | Artaç, H. | |
dc.institutionauthor | Reisli, İ. | |
dc.institutionauthor | Kara, R. | |
dc.institutionauthor | Pekcan, S. | |
dc.language.iso | en | en_US |
dc.publisher | Nature Publishing Group | en_US |
dc.relation.ispartof | Genes and Immunity | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.selcuk | 20240510_oaig | en_US |
dc.subject | Cd19 | en_US |
dc.subject | Cd21 | en_US |
dc.subject | B cell | en_US |
dc.subject | Antibody deficiency | en_US |
dc.subject | Vaccination response | en_US |
dc.subject | Heterozygous mutation | en_US |
dc.title | B-Cell Maturation and Antibody Responses in Individuals Carrying a Mutated CD19 Allele | en_US |
dc.type | Article | en_US |
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