Further delineation of primary B cell immunodeficiency caused by novel variants of the BLNK gene in two Chinese patients

Further delineation of primary B cell immunodeficiency caused by novel variants of the BLNK gene in two Chinese patients

Copyright © 2020. Published by Elsevier Inc.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 214(2020) vom: 12. Mai, Seite 108387
1. Verfasser: Li, Niu (VerfasserIn)
Weitere Verfasser: Wu, Jing, Wu, Yufen, Xu, Yufei, Yao, Ruen, Li, Guoqiang, Zhang, Jie, Zhou, YunFang, Yin, Lei, Yin, Yong, Yu, Tingting, Wang, Jian
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2020
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't BLNK gene Memory B-cell development Memory T- cell development Novel variants Primary B cell immunodeficiency Adaptor Proteins, Signal Transducing B cell linker protein Protein Isoforms
Beschreibung
Zusammenfassung:Copyright © 2020. Published by Elsevier Inc.
Biallelic variants in BLNK cause primary B-cell immunodeficiency that usually results in absence of B cells and immunoglobulin. Here, we identified disease-causing variant(s) in two unrelated Chinese patients with agammaglobulinemia. Patient 1 showed a moderate reduction in total B-cell count but demonstrated both extremely low levels of memory B-cells and lower levels of memory T cells relative to those in healthy controls. Whole-exome sequencing (WES) revealed a novel heterozygous splice variant (c.676+1G>A), and suggested exon 9 deletion from BLNK, which was subsequently validated by quantitative polymerase chain reaction. For Patient 2, WES revealed novel compound heterozygous of a frameshift variant (p.T152Pfs*6) and a synonymous variant (c.525G>A) that resulted in exon 6 skipping, according to cDNA sequencing. These findings represent the first report of a BLNK-deficient patient presenting with impaired memory B-cell and memory T-cell development. Furthermore, this study is the first reporting a pathogenic synonymous splice variant in BLNK
Beschreibung:Date Completed 23.10.2020
Date Revised 07.12.2022
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2020.108387