STK4 deficiency underlies impaired interferon signaling and T cell immunity

We investigated transcriptional responses following in vitro stimulation of peripheral blood mononuclear cells (PBMCs) obtained from a patient with inherited STK4 deficiency. Samples from the heterozygous parents and unrelated healthy donors with a wild-type genotype were analyzed for comparison. PBMCs from the STK4-deficient patient, the parents and from three healthy unrelated donors were stimulated for 2 hours either with IFNa+IFNb, or PMA+Iononycin. Each subject and condition was assessed in duplicate and samples were subjected for mRNA sequencing.

我们针对1名遗传性STK4缺陷患者来源的外周血单个核细胞（peripheral blood mononuclear cells, PBMCs）进行体外刺激后，对其转录应答展开了研究。为开展对照分析，本研究同时纳入该患者的杂合子父母以及基因型为野生型的无关健康供者样本。我们对STK4缺陷患者、其父母以及3名无关健康供者的PBMCs，分别采用干扰素α+干扰素β（IFNa+IFNb）或佛波酯+离子霉素（PMA+Iononycin）进行2小时体外刺激。每名受试者与每种刺激条件均设置双份重复样本，随后对所有样本进行mRNA测序（mRNA sequencing）。