Inherited IL-23R deficiency: single-cell RNA sequencing (scRNASeq) of cryopreserved PBMCs

Single-cell RNA sequencing analysis was performed on cryopreserved PBMCs from patients with inherited IL-23R deficiency, together with healthy controls, patients with IL-12Rb1 and IL-12Rb2 deficiencies, and a patient with a heterozygous STAT1 gain-of-function mutation. PBMCs were analyzed either directly after thawing (Baseline) or incubated for 6 hours in vitro with or without recombinant IL-23 (IL23Stim; 100 ng/mL).