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

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

Description

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).

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Steps to reproduce

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

Institutions

  • IMAGINE
  • Rockefeller University

Categories

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

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