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dc.contributor.authorvan Dongen, J. J. M.
dc.contributor.authorAdin-Cinar, Suzan
dc.contributor.authorBakker-Jonges, L. E.
dc.contributor.authorvan der Burg, M.
dc.contributor.authorvan Zelm, M. C.
dc.contributor.authorArtac, H.
dc.contributor.authorReisli, I.
dc.contributor.authorKara, R.
dc.contributor.authorPico-Knijnenburg, I.
dc.contributor.authorPekcan, S.
dc.contributor.authorJol-van der Zijde, C. M.
dc.contributor.authorvan Tol, M. J. D.
dc.date.accessioned2021-03-03T10:06:36Z
dc.date.available2021-03-03T10:06:36Z
dc.date.issued2010
dc.identifier.citationArtac H., Reisli I., Kara R., Pico-Knijnenburg I., Adin-Cinar S., Pekcan S., Jol-van der Zijde C. M. , van Tol M. J. D. , Bakker-Jonges L. E. , van Dongen J. J. M. , et al., "B-cell maturation and antibody responses in individuals carrying a mutated CD19 allele", GENES AND IMMUNITY, cilt.11, sa.7, ss.523-530, 2010
dc.identifier.issn1466-4879
dc.identifier.othervv_1032021
dc.identifier.otherav_20bbf56b-8a7d-4789-bff9-115768eb4258
dc.identifier.urihttp://hdl.handle.net/20.500.12627/27061
dc.identifier.urihttps://doi.org/10.1038/gene.2010.22
dc.description.abstractHomozygous 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. Genes and Immunity (2010) 11, 523-530; doi:10.1038/gene.2010.22; published online 6 May 2010
dc.language.isoeng
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectTıp
dc.subjectİmmünoloji
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.titleB-cell maturation and antibody responses in individuals carrying a mutated CD19 allele
dc.typeMakale
dc.relation.journalGENES AND IMMUNITY
dc.contributor.departmentSelçuk Üniversitesi , ,
dc.identifier.volume11
dc.identifier.issue7
dc.identifier.startpage523
dc.identifier.endpage530
dc.contributor.firstauthorID197769


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