GSE118901
Transcriptional analysis of whole blood and PBMCs from human HOIP deficiency patients
LUBAC (linear ubiquitin assembly complex) consists of HOIP, HOIL1 and SHARPIN. HOIP deficiency has been characterized by immunodeficiency, autoinflammation and amylopectinosis. To explore the molecular mechanism of the autoinflammation, we performed a transcriptome-wide analysis using whole blood and unstimulated PBMCs of a HOIP deficiency patient. Overall design: RNAseq using the whole blood and PBMCs of the HOIP deficiency patient, healthy unrelated controls and the patient's parent (heterozygous carrier of a mutation in HOIP)