Pluto Bioinformatics

GSE118901: Transcriptional analysis of whole blood and PBMCs from human HOIP deficiency patients

Bulk RNA sequencing

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. SOURCE: Ivona Aksentijevich (aksentii@arb.niams.nih.gov) - NIH