Scopus
YÖKSİS DOI Eşleşti
SJR Q1
B-cell maturation and antibody responses in individuals carrying a mutated CD19 allele
Genes and Immunity · Ekim 2010
YÖKSİS Kayıtları
B Cell Maturation and Antibody Responses in Individuals Carrying a Mutated CD19 Allele
Genes and Immunity · 2010 SCI-Expanded 15 atıf
Öğr. Gör. REYHAN KARA →
B cell maturation and antibody responses in individuals carrying a mutated CD19 allele
Genes and Immunity · 2010 SCI
Prof. Dr. HASİBE ARTAÇ →
YÖKSİS Kayıtları — ISSN Eşleşmesi
B Cell Maturation and Antibody Responses in Individuals Carrying a Mutated CD19 Allele
2010 ISSN: 1466-4879 SCI-Expanded 15 atıf
Öğr. Gör. REYHAN KARA →
B cell maturation and antibody responses in individuals carrying a mutated CD19 allele
2010 ISSN: 1466-4879 SCI
Prof. Dr. HASİBE ARTAÇ →
Makale Bilgileri
Dergi
Genes and Immunity
ISSN14664879
Yayın TarihiEkim 2010
Cilt / Sayfa11 · 523-530
Scopus ID2-s2.0-77958153348
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 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. © 2010 Macmillan Publishers Limited All rights reserved.
Yazarlar (12)
1
Hasibe Artac
2
Ismail Reisli
3
Reyhan Kara
4
I. Pico-Knijnenburg
5
S. Adin-Çinar
6
S. Pekcan
7
C. M. Jol-Van Der Zijde
8
M. J.D. Van Tol
9
L. E. Bakker-Jonges
10
J. J.M. Van Dongen
11
M. Van Der Burg
12
M. C. Van Zelm
Anahtar Kelimeler
antibody deficiency
B cell
CD21
D19
heterozygous mutation
vaccination response
Kurumlar
Erasmus MC
Rotterdam Netherlands
Istanbul Üniversitesi
Istanbul Turkey
Leids Universitair Medisch Centrum
Leiden Netherlands
Selçuk Üniversitesi
Selçuklu Turkey
Scimago Dergi (ISSN Eşleşmesi)
Genes and Immunity
Q1
SJR Skoru1,344
H-Index117
YayıncıSpringer Nature
ÜlkeUnited Kingdom
Genetics (Q1)
Genetics (clinical) (Q1)
Immunology (Q2)
Metrikler
32
Atıf
12
Yazar
6
Anahtar Kelime