title: NextSeq 500 paired end sequencing; RNAseq on PBMC of two patients with a novel syndromic entity combining immunodeficiency, lymphoproliferation and HLH-like phenotypes, and three age and sex-matched controls for each patient.
design: RNAseq on PBMC of two patients with a novel syndromic entity combining immunodeficiency, lymphoproliferation and HLH-like phenotypes, and three age and sex-matched controls for each patient.
library_construction_protocol: Standard venopuncture followed by ficoll extraction of PBMC Total RNA was isolated from Peripheral Blood Mononuclear Cells (PBMC) using the RNeasy® Mini Kit (Qiagen, Hilden, Germany) Total RNA Sequencing libraries were prepared with SMARTer® Stranded Total RNA-Seq Kit v2 - Pico Input Mammalian (TaKaRa, Kusatsu, Japan), according to the manufacturer's protocol.