Transcriptomic profiling of cleavage-resistant RIPK1 induced autoinflammation syndrome patients. Transcriptomic profiling of cleavage-resistant RIPK1 induced autoinflammation syndrome patients

RIPK1 is known to play an important role in TNF induced immune signaling. We have identified three pedigrees with heterozygos mutations in RIPK1 that disrupts its cleavage. We studied the transcriptional profiles of whole blood from one patient. Overall design: RNAseq using the whole blood of a patient having heterozygous mutation in RIPK1 cleavage site (p.D324Y)

受体相互作用蛋白激酶1（RIPK1）已被证实可在肿瘤坏死因子（TNF）诱导的免疫信号通路中发挥重要作用。本研究鉴定出三个携带RIPK1杂合突变的家系，此类突变会破坏RIPK1的蛋白剪切过程。我们对其中一名患者的全血转录组表达谱展开了研究。实验设计：对一名携带RIPK1剪切位点杂合突变（p.D324Y）的患者的全血进行RNA测序（RNAseq）。