Inherited PD-L1 deficiency: single-cell RNA sequencing (scRNASeq) of cryopreserved PBMCs

Cryopreserved PBMCs from the PD-L1-deficient siblings, their heterozygous mother, one age-matched healthy control, and two adult healthy controls were subjected to single-cell RNA sequencing (scRNASeq) analysis as previously described (Ogishi et al., JEM., 2022). In addition, PBMCs from two APDS patients and one STAT3 GOF patient were analyzed as disease controls. Previously obtained data for healthy and diseased controls, including the PD-1-deficient child and his healthy brother (Ogishi et al., Nat. Med., 2021) and one RNaseL-deficient MIS-C patient (Lee et al., Science., 2023), were also integrated into the analysis. Gene regulatory network (GRN) analysis was conducted with the SCENIC pipeline (Aibar et al., Nat. Method., 2017).