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
复制标题
进一步描述两名中国患者由 BLNK 基因新变体引起的原发性 B 细胞免疫缺陷
DOI：
10.1016/j.clim.2020.108387
复制
发表时间：
2020-05-01
影响因子：
8.6
通讯作者：
Wang, Jian
中科院分区：
文献类型：
--
作者：
Li, Niu;Wu, Jing;Wang, Jian
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.
