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

Published: 20 January 2023| Version 1 | DOI: 10.17632/crn9b53g7v.1
Quentin Philippot, Masato Ogishi, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Anne Puel


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).


Steps to reproduce

The main scripts are numbered in the order of analysis. Preprocessed datasets and metadata are also provided.


IMAGINE, Rockefeller University


Genetics, Immunology, Infectious Disease, Life Sciences, Human Genetics, Mycobacterial Infection