B Cell Lymphocytosis and Reprogramming due to a CARD11 Bi-Allelic Gain-of-Function Mutation

This is a single-cell RNA sequencing (scRNA-seq) study using peripheral blood mononuclear cells (PBMC) from 2 healthy donors and 2 patients with B cell Expansion with NF-κB and T cell Anergy (BENTA). Samples were not hashed or multiplexed. The 10X Genomics Platform was used for sequencing. Principal findings include transcriptome changes due to mono- or bi-allelic mutations in the gene CARD11. FASTA files will be available through dbGaP. ]]>

本研究为一项基于单细胞RNA测序（single-cell RNA sequencing, scRNA-seq）的研究，纳入2名健康供者与2名伴有NF-κB活化与T细胞无能的B细胞扩增（B cell Expansion with NF-κB and T cell Anergy, BENTA）患者的外周血单个核细胞（peripheral blood mononuclear cells, PBMC）样本。所有样本均未采用哈希标记或多重混样策略，测序工作依托10X Genomics平台完成。本研究的核心发现为：CARD11基因的单等位或双等位基因突变可诱导转录组发生特异性变化。FASTA格式文件将通过dbGaP数据库对外公开获取。