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

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Further delineation of primary B cell immunodeficiency caused by novel variants of the BLNK gene in two Chinese patients.
Clinical Immunology ( IF 8.6 ) Pub Date : 2020-03-16 , DOI: 10.1016/j.clim.2020.108387
Niu Li ₁ , Jing Wu ₂ , Yufen Wu ₃ , Yufei Xu ₁ , Ruen Yao ₁ , Guoqiang Li ₁ , Jie Zhang ₄ , YunFang Zhou ₅ , Lei Yin ₅ , Yong Yin ₃ , Tingting Yu ₁ , Jian Wang ₁

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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.

更新日期：2020-03-16

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