B-Cell Maturation and Antibody Responses in Individuals Carrying a Mutated CD19 Allele
Yükleniyor...
Dosyalar
Tarih
2010
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Nature Publishing Group
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Cd19, Cd21, B cell, Antibody deficiency, Vaccination response, Heterozygous mutation
Kaynak
Genes and Immunity
WoS Q Değeri
Q1
Scopus Q Değeri
Q2
Cilt
11
Sayı
7
Künye
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;
