结果:通过对CVIDs基因组和转录组进行测序和综合分析发现, TNFRSF13B, TNFRSF13C, LRBA and NLRP12等基因在CVIDs存在突变,这些突变的基因与B细胞受体信号通路,非同源末端连接修复,细胞凋亡,T细胞调控及ICOS信号通路的调控有关。该研究揭示了新的CVIDs相关的信号通路。
原文索引:
Pauline A. van Schouwenburg, Emma E. Davenport (2015) Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders. Clinical Immunology, 160 (2), 301–314